Turner syndrome: Wikis

  
  

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Turner Syndrome
Classification and external resources

45,X karyotype - note unpaired X at lower right.
ICD-10 Q96.
ICD-9 758.6
DiseasesDB 13461
MedlinePlus 000379
eMedicine ped/2330
MeSH D014424
.Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome) is most common.^ Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X .
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ Turner syndrome is more common prenatally.

^ This syndrome described in 1938 [1] , is the most common sex chromosome abnormality in females [2] .
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

.It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes).^ It is a chromosomal disorder in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which 2 are sex chromosomes).
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ Humans have 46 chromosomes.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ Females with Turner syndrome are missing all or part of one X chromosome.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

.Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities.^ Are females with Turner Syndrome mentally retarded?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ This syndrome described in 1938 [1] , is the most common sex chromosome abnormality in females [2] .
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome.

In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.
.Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways.^ This abnormality occurs in 60% of girls with Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Turner syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes.
  • Turner Syndrome 2008-09-01 00:00:00.0 10 January 2010 15:34 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ Turner syndrome (TS) is a medical problem that affects about one in every 2,500 girls.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

.There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.^ Broad or webbed neck .
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Physical abnormalities include short stature, lymphedema, broad chest, and webbed neck (Wikipedia).

^ Low-set ears .

[3] .Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility.^ Follicles are found in the ovaries of adolescent girls with Turners syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Turner syndrome occurs as result of a problem with a girl’s chromosomes.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ Turner's Syndrome results from X chromosome monosomy.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

.Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.^ Problems with the heart, kidney or thyroid are frequent health issues.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Test for thyroid function by measuring thyroid-stimulating hormone and free or total thyroxine levels at 1- to 2-year intervals because of the increased frequency of hypothyroidism usually caused by autoimmune thyroiditis.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ The relative risk (RR) of an endocrine diagnosis in Turner syndrome patients is increased to 4.9, being accounted for by an increased risk of hypothyroidism (RR 5.8), thyroiditis (RR 16.6), type 1 diabetes (RR 11.6), and type 2 diabetes (RR 4.4).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

[4] .Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.^ A significant number of females with TS have deficits in specific areas of intellectual performance.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ It is likely that some of the areas of cognitive deficits are directly due to the X chromosome abnormality, as evidenced by differences in verbal and visuospatial function between females with 45,X monosomy and mosaics ( 259 ) and other areas of cognitive deficits, such as memory and reaction time, are as a result of estrogen deficiency and are therefore potentially reversible.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Watch for potential school problems, such as specific learning disabilities, attention deficits, hyperactivity, and difficulty in developing social skills.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

[5]

Contents

Symptoms

Common symptoms of Turner syndrome include:
  • Short stature
  • Lymphedema (swelling) of the hands and feet
  • Broad chest (shield chest) and widely spaced nipples
  • Low hairline
  • Low-set ears
  • Reproductive sterility
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
  • Amenorrhoea, or the absence of a menstrual period
  • Increased weight, obesity
  • Shield shaped thorax of heart
  • Shortened metacarpal IV
  • Small fingernails
  • Characteristic facial features
  • Webbed neck from cystic hygroma in infancy
  • Coarctation of the aorta
  • Poor breast development
  • Horseshoe kidney
  • Visual impairments sclera, cornea, glaucoma, etc.
  • Ear infections and hearing loss
.Other symptoms may include a small lower jaw (micrognathia), cubitus valgus (turned-out elbows), soft upturned nails, palmar crease, and drooping eyelids.^ In 1938, Dr Henry Turner reported about 7 girls with features of short stature, underdeveloped sexual organs, webbing of the neck, low hairline in the neck and turned out arms at the elbow (cubitus valgus).
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Less commonly reported features include ptosis of the eyelids, hypertelorism, vertebral and other skeletal anomalies, and single transverse palmar crease.

^ Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus.
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

.Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla).^ Another skeletal abnormality is high-arched palate, which occurs in 35% of girls with Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Rather than a gentle curve, the high-arched palate is V- or U-shaped.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ These pictures represent the various severities of a high-arched palate.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.^ Noonan syndrome can affect males and females.
  • CIGNA - Turner Syndrome 10 January 2010 15:34 UTC www.cigna.com [Source type: Academic]
  • Turner Syndrome - Caring4Cancer 10 January 2010 15:34 UTC www.caring4cancer.com [Source type: Academic]

^ The most common symptoms of Turner syndrome are: .
  • Turner Syndrome: symptoms, treatment, prevention, cause, cure, risks, complications, long-term outlook 10 January 2010 15:34 UTC www.mamashealth.com [Source type: FILTERED WITH BAYES]

^ Females with Turner syndrome have streak ovaries.

Risk factors

.Risk factors for Turner syndrome are not well known.^ Monosomy X is also known as Turner syndrome .
  • Turner Syndrome Information on Healthline 10 January 2010 15:34 UTC www.healthline.com [Source type: FILTERED WITH BAYES]

^ Risk factors Symptoms References Learning about Turner syndrome.
  • Turner syndrome: Causes - MayoClinic.com 10 January 2010 15:34 UTC mayoclinic.com [Source type: Academic]

^ There are no known risk factors for Turner's syndrome.
  • Turner's Syndrome | Health | Patient UK 10 January 2010 15:34 UTC www.patient.co.uk [Source type: FILTERED WITH BAYES]

.Nondisjunctions increase with maternal age, such as for Down syndrome, but that effect is not clear for Turner syndrome.^ I also knew the risks of Down syndrome increased with advanced maternal age.

^ Although one investigation reported a higher rate of sex chromosomal abnormalities with maternal gestational diabetes, the rate of Turner syndrome was not increased (Moore et al., 2002).

^ REFERENCES Massa GG, Vanderschueren-Lodeweyckx M. Age and height at diagnosis in Turner syndrome: influencer of parental height.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.It is also unknown if there is a genetic predisposition present that causes the abnormality, though most researchers and doctors treating Turners women agree that this is highly unlikely.^ The cause of the abnormal aortic valve is unknown.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Indicate that infertility is almost always present, although assisted reproduction techniques may enable infertile women with Turner syndrome to have children.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ If hypertension is present, treat it aggressively and perform a careful search for cardiovascular or renal causes.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.In 75% of cases inactivated X chromosome is paternal origin.^ In 75-85% of the cases of 45,X, the X chromosome is of maternal origin, indicating that it was the paternal sex chromosome that was lost (Monroy et al., 2002; Uematsu et al., 2002; Jacobs et al., 1997; Larsen et al., 1995; Connor and Loughlin, 1989; Hassold et al., 1990; Hassold et al., 1988; Sanger et al., 1977).

^ In simplex cases (i.e., those with no known family history ), paternal origin of the mutation has been found universally to date [ Tartaglia et al 2004a ].
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Maternal and paternal age have not been found to affect parental origin of the X chromosome (Lorda-Sanchez et al., 1992; Hassold et al., 1992).

.There is currently no known cause for Turner syndrome, though there are several theories surrounding the subject.^ There is no connection between Turner Syndrome and mental retardation.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ As it is a chromosomal condition, there is no "cure" for Turner Syndrome.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ What causes Turner syndrome?

.The only solid fact that is known today is that during conception part or all of the second sex chromosome is not transferred to the fetus.^ There is nothing known that a father could have done or not done which would have caused or prevented the sperm from having a missing sex chromosome.

^ Turner syndrome may additionally occur if a second sex chromosome, usually the X chromosome, is present but has a structural abnormality.

^ This syndrome is genetic, affecting what is known as the sex chromosomes.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

[6]

Incidence

.Approximately 98 percent of all fetuses with Turner syndrome result in miscarriage.^ Ninety-nine percent of all fetuses with Turner syndrome die before birth by spontaneous miscarriage.

^ Turner's Syndrome results from X chromosome monosomy.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ In approximately 80% of girls with 45,X Turner syndrome, the single remaining X chromosome is inherited from the mother, and in 20% of these girls, it is inherited from the father.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.March 2009" style="white-space:nowrap;">[citation needed] Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States.^ FAQs about Turner Syndrome (TS) .
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ The overall incidence of spontaneous puberty in girls with Turner syndrome is 12%.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ About 50 percent of Turner syndrome results from full monosomy X. One third have two X chromosomes with part of one X missing.

The incidence of Turner syndrome in live female births is believed to be 1 in 2500.

History

.The syndrome is named after Henry Hubert Turner, an endocrinologist from Illinois, who described it in 1938.[7] In Europe, it is often called Ullrich-Turner syndrome or even Bonnevie-Ullrich-Turner syndrome to acknowledge that earlier cases had also been described by European doctors.^ Turner syndrome, also known as Ullrich-Turner syndrome and monosomy X, was first described by Henry Turner in 1938 (Turner, 1938).

^ [Aortic aneurysms in Ullrich-Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ However, the syndrome is named after Henry Turner ( 3 ), an American endocrinologist from Oklahoma, who in 1938 described seven women with characteristic phenotypic features of the syndrome.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire and Guy's Hospital in London.[8] .It was found in a 14-year-old girl with signs of Turner syndrome.^ I was diagnosed with Turner’s Syndrome at the age of three years old.
  • Turner Syndrome Support Group 10 January 2010 15:34 UTC www.mdjunction.com [Source type: General]

^ Turner syndrome is a chromosomal defect in girls.
  • Growth Disorders - Turner Syndrome - Novo Nordisk A/S 10 January 2010 15:34 UTC www.novonordisk.com [Source type: Academic]

^ About 1 in 2,500 girls has Turner Syndrome.

Diagnosis

.Turner syndrome may be diagnosed by amniocentesis during pregnancy.^ Turner syndrome may be suspected in pregnancy during an ultrasound test.
  • genome.gov | Learning About Turner Syndrome 10 January 2010 15:34 UTC www.genome.gov [Source type: Academic]

^ Turner syndrome can be diagnosed at any stage of life.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]
  • Turner Syndrome - Symptoms, Diagnosis, Treatment of Turner Syndrome - NY Times Health Information 10 January 2010 15:34 UTC health.nytimes.com [Source type: News]
  • Turner syndrome Information at myOptumHealth 10 January 2010 15:34 UTC www.myoptumhealth.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome Information at myOptumHealth 10 January 2010 15:34 UTC www.myoptumhealth.com [Source type: FILTERED WITH BAYES]
  • Health Library 10 January 2010 15:34 UTC www.floridahospital.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.drexelmed.edu [Source type: Academic]
  • FloridaHealthFinder.gov | Health Encyclopedia | Turner syndrome 10 January 2010 15:34 UTC www.floridahealthfinder.gov [Source type: FILTERED WITH BAYES]
  • UT Medical Center - Turner syndrome 10 January 2010 15:34 UTC www.utmedicalcenter.org [Source type: FILTERED WITH BAYES]
  • Turner syndrome - Health Diseases & Medical Conditions - South Florida Hospital 10 January 2010 15:34 UTC www.mhs.net [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.mercksource.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome - Abington Memorial Hospital 10 January 2010 15:34 UTC amh.adam.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome - Avera Health 10 January 2010 15:34 UTC averaorg.adam.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome - Aultman Health Foundation 10 January 2010 15:34 UTC aultmanhealth.adam.com [Source type: FILTERED WITH BAYES]

^ Pregnancy Risks Women with Turner syndrome may have additional pregnancy risks .

Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. heart defect, kidney abnormality, cystic hygroma, ascites). .Although the recurrence risk is not increased, genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome.^ Hovatta O. Pregnancies in women with Turner syndrome.
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

^ Most often, Turner syndrome is a sporadic event, and the risk of recurrence is not increased for subsequent pregnancies.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Girls with Turner syndrome also have an increased risk of scoliosis, kyphosis, and lordosis.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.A test, called a karyotype or a chromosome analysis, analyzes the chromosomal composition of the individual.^ Karyotype refers to an individual's chromosomal pattern.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ It may be diagnosed before birth if chromosome analysis is done during prenatal testing.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ A diagnosis of Turner syndrome can be confirmed with standard karyotyping (i.e., chromosomal analysis of 30 peripheral lymphocytes).
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

.This is the test of choice to diagnose Turner syndrome.^ Turner syndrome can be diagnosed at any stage of life.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ This accounts for about 60% of all diagnosed Turner syndrome cases and is referred to as 45, X. These girls are the most seriously affected.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Savendahl L, Davenport ML. Delayed diagnoses of Turners syndrome: proposed guidelines for change.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

Prognosis

.While most of the physical findings in Turner syndrome are harmless, there can be significant medical problems associated with the syndrome.^ [Aortic dissection associated with Turner’s syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Are there other problems associated with having Turner Syndrome?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Karyotypes commonly associated with Turner syndrome .

Cardiovascular

Price et al. .(1986 study of 156 female patients with Turner syndrome) showed a significantly greater number of deaths from diseases of the circulatory system than expected, half of them due to congenital heart defects—mostly preductal coarctation of the aorta.^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ [Abstract/ Free  Full Text] Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner’s syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Are females with Turner Syndrome mentally retarded?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

.When patients with congenital heart disease were omitted from the sample of the study, the mortality from circulatory disorders was not significantly increased.^ Congenital heart disease in patients with Turner syndrome.
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

^ Mazzanti L, Cacciari E. Congenital heart disease in patients with Turners syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Neonatal diagnosis of TS permits further investigation of associated anomalies, such as congenital heart and renal diseases, and tumor markers for dysgenic gonads.
  • A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome 10 January 2010 15:34 UTC www.funpecrp.com.br [Source type: Academic]

.Cardiovascular malformations are a serious concern as it is the most common cause of death in adults with Turner syndrome.^ Turner syndrome is more common prenatally.

^ Prevalence of renal malformation in Turner syndrome.
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]

^ Cardiovascular malformations are well-recognized congenital anomalies in Turner syndrome.
  • Turner Syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 10 January 2010 15:34 UTC health.stateuniversity.com [Source type: Academic]

.It takes an important part in the 3-fold increase in overall mortality and the reduced life expectancy (up to 13 years) associated with Turner syndrome.^ Follow-up: Turner Syndrome .
  • Turner Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 10 January 2010 15:34 UTC emedicine.medscape.com [Source type: Academic]
  • Turner Syndrome: Multimedia - eMedicine Pediatrics: Genetics and Metabolic Disease 10 January 2010 15:34 UTC emedicine.medscape.com [Source type: Academic]

^ Turner syndrome can be diagnosed at any stage of life.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome Medical Information 10 January 2010 15:34 UTC www.drugs.com [Source type: Academic]
  • HowStuffWorks "Turner Syndrome - Medical Dictionary" 10 January 2010 15:34 UTC healthguide.howstuffworks.com [Source type: FILTERED WITH BAYES]
  • Turner Syndrome - Symptoms, Diagnosis, Treatment of Turner Syndrome - NY Times Health Information 10 January 2010 15:34 UTC health.nytimes.com [Source type: News]
  • Turner syndrome Information at myOptumHealth 10 January 2010 15:34 UTC www.myoptumhealth.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome Information at myOptumHealth 10 January 2010 15:34 UTC www.myoptumhealth.com [Source type: FILTERED WITH BAYES]
  • FloridaHealthFinder.gov | Health Encyclopedia | Turner syndrome 10 January 2010 15:34 UTC www.floridahealthfinder.gov [Source type: FILTERED WITH BAYES]
  • UT Medical Center - Turner syndrome 10 January 2010 15:34 UTC www.utmedicalcenter.org [Source type: FILTERED WITH BAYES]
  • Turner syndrome - Abington Memorial Hospital 10 January 2010 15:34 UTC amh.adam.com [Source type: FILTERED WITH BAYES]

^ TS is associated with a 3-fold increase in overall mortality and a life expectancy that is reduced by up to 13 yr ( 8 , 9 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

Cause

.According to Sybert, 1998 the data are inadequate to allow conclusions about phenotype-karyotype correlations in regard to cardiovascular malformations in Turner syndrome because the number of individuals studied within the less common karyotype groups is too small.^ Turner syndrome is more common prenatally.

^ Care of girls and women with turner syndrome: a guideline of the turner syndrome study group.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ A wide range of karyotypic abnormalities exists within Turner syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

.Other studies also suggest the presence of hidden mosaicisms that are not diagnosed on usual karyotypic analyses in some patients with 45,X karyotype.^ Some studies suggest a 1.5 standard deviation gain in final height (7 cm) [ Osio et al 2005 , Noordam 2007 ].
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Some researchers have suggested that mosaicism of some degree must be present for survival in utero and that true 45,X does not exist (Hassold et al., 1992; Held et al., 1992; Hook and Warburton, 1983).

^ When conventional karyotyping is performed using lymphocyte cultures, about 50% of patients show a 45,X chromosome constitution.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.In conclusion, the associations between karyotype and phenotypic characteristics, including cardiovascular malformations, remain questionable.^ Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ The frequency of renal malformations is higher in females with 45,X monosomy but the association is weak and renal disease may occur with any karyotype ( 185 , 188 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The following is a quick review of the distinction between karyotype, genotype, and phenotype.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

Prevalence of cardiovascular malformations

.The prevalence of cardiovascular malformations among patients with Turner syndrome ranges from 17% (Landin-Wilhelmsen et al., 2001) to 45% (Dawson-Falk et al., 1992).^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Of those who live, 17-45 % have cardiovascular malformations at birth (Landin-Wilhelmsen et al, 2001).

^ Turner's Syndrome in Adulthood -- Elsheikh et al.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.The variations found in the different studies are mainly attributable to variations in non-invasive methods used for screening and the types of lesions that they can characterize (Ho et al., 2004).^ Some studies suggest a 1.5 standard deviation gain in final height (7 cm) [ Osio et al 2005 , Noordam 2007 ].
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ In a companion paper, Roberts et al [2007] reported 14 individuals with NS who were found to have SOS1 mutations .
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ When studying the entire population of females with TS in Denmark, the median age at diagnosis was 15 years, with a range of 0-86 years (unpublished observations, Gravholt et al.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.However Sybert, 1998 suggests that it could be simply attributable to the small number of subjects in most studies.^ This data suggesting a correlation between the passage number, and the frequency of the loss of sex chromosomes are in agreement with a previous study which reports a frequency of 2% in the loss of the Y chromosome in mouse ESCs [21] .
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ However, the number of years of GH treatment before estrogens was the single most important factor for predicting the response to treatment, as also shown by other authors.
  • Clinics - Turner syndrome: searching for better outcomes 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Only a small number of study participants have reached final adult height.
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.Different karyotypes may have differing prevalence of cardiovascular malformations.^ Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome.
  • Management of Turner syndrome (gonadal dysgenesis) 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]
  • Management of Turner syndrome (gonadal dysgenesis) 10 January 2010 15:34 UTC patients.uptodate.com [Source type: Academic]

^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.Two studies found a prevalence of cardiovascular malformations of 30%[9] and 38%[10] in a group of pure 45,X monosomy.^ Of those who live, 17-45 % have cardiovascular malformations at birth (Landin-Wilhelmsen et al, 2001).

^ The frequency of renal malformations is higher in females with 45,X monosomy but the association is weak and renal disease may occur with any karyotype ( 185 , 188 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The majority ( 63%) of study subjects had a pure TS karyotype of 45,X. The 46,XiXq group (IsoQ) have the second X chromosome missing the short arm (Xp) with 2 copies of the long arm fused together.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

.But considering other karyotype groups, they reported a prevalence of 24.3%[9] and 11%[10] in patients with mosaic X monosomy , and a prevalence of 11% in patients with X chromosomal structural abnormalities.^ They told me that there were other relatively common (although more lethal) chromosome problems the FISH test could detect including Turner syndrome (Monosomy X), disorders of the Y chromosome, Trisomy 18, and Trisomy 13.

^ These structural abnormalities include isochromosome (one arm of a chromosome is lost and the other arm is duplicated) with karyotype 46,X,i(Xq), deletion (loss of part of a chromosome) with karyotype 46,X,del(X), and ring chromosome (a single chromosome suffers two breaks and the broken ends are joined together, forming a ring) with karyotype 46,X,r(X).

^ Therefore, when an X-linked disorder is identified in a female, the possibility of Turner syndrome caused by monosomy X (absence of an X chromosome: 45,X) or a structural abnormality of an X chromosome should be considered.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

[9]
.The higher prevalence in the group of pure 45,X monosomy is primarily due to a significant difference in the prevalence of aortic valve abnormalities and coarctation of the aorta, the two most common cardiovascular malformations.^ Pure 45,X monosomy is the most common karyotype and is associated with the most abnormal phenotype.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The cause of the abnormal aortic valve is unknown.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Bicuspid aortic valve is the most common malformation, followed by coarctation of the aorta.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

Congenital heart disease

.The most commonly observed are congenital obstructive lesions of the left side of the heart, leading to reduced flow on this side of the heart.^ Overall, life expectancy is only slightly reduced, most girls with Turner's syndrome have normal intelligence, and most have the potential to lead happy and full lives.
  • Turner's Syndrome | Health | Patient UK 10 January 2010 15:34 UTC www.patient.co.uk [Source type: FILTERED WITH BAYES]

^ Lakshmi Mehta: Typically it's a left-sided heart defect and coarctation is quite common in Turner Syndrome.
  • Learn about the Turner Syndrome Video – 5min.com 10 January 2010 15:34 UTC www.5min.com [Source type: General]

^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.This includes bicuspid aortic valve and coarctation of the aorta.^ Seen with coarctation of the aorta and aortic aneurysm.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Bicuspid aortic valve is the most common malformation, followed by coarctation of the aorta.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Sybert, 1998 found that more than 50% of the cardiovascular malformations observed in her study of individuals with Turner syndrome were bicuspid aortic valves or coarctation of the aorta, alone or in combination.^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Turner syndrome is more common prenatally.

.Other congenital cardiovascular malformations, such as partial anomalous venous drainage and aortic valve stenosis or aortic regurgitation, are also more common in Turner syndrome than in the general population.^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Turner syndrome is more common prenatally.

.Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures.^ Other less common but still significant cardiovascular defects in individuals with Turner syndrome are mitral valve prolapse, partial anomalous pulmonary venous drainage, and hypoplastic left heart syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ These may include constriction of the large artery of the heart (aortic coarctation) and other abnormalities of the left side of the heart.
  • CIGNA - Turner Syndrome 10 January 2010 15:34 UTC www.cigna.com [Source type: Academic]

Bicuspid aortic valve
.Up to 15% of adults with Turner syndrome have bicuspid aortic valves, meaning that there are only two, instead of three, parts to the valves in the main blood vessel leading from the heart.^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ As many as 15% of adults with Turner syndrome are reported to have "bicuspid aortic valves," meaning that the major blood vessel from the heart has only two rather than three components to the valve regulating blood flow.
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medical sales, personal statement medical school, new england medical center, medical device development, ge medical 10 January 2010 15:34 UTC www.hospitalium.com [Source type: Academic]

^ Other less common but still significant cardiovascular defects in individuals with Turner syndrome are mitral valve prolapse, partial anomalous pulmonary venous drainage, and hypoplastic left heart syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

.Since bicuspid valves are capable of regulating blood flow properly, this condition may go undetected without regular screening.^ The aorta and bicuspid valve allow blood to flow through the heart.
  • MayoClinic.com Health Library - Turner syndrome 10 January 2010 15:34 UTC www.riversideonline.com [Source type: FILTERED WITH BAYES]

^ As many as 15% of adults with Turner syndrome are reported to have "bicuspid aortic valves," meaning that the major blood vessel from the heart has only two rather than three components to the valve regulating blood flow.
  • Turner Syndrome ; Seattle Washington WA 10 January 2010 15:34 UTC www.swedish.org [Source type: Academic]
  • Turner Syndrome | Lifescript.com 10 January 2010 15:34 UTC www.lifescript.com [Source type: General]
  • Your Health - Turner Syndrome 10 January 2010 15:34 UTC www.aurorahealthcare.org [Source type: FILTERED WITH BAYES]
  • Turner Syndrome (Monosomy X) | ThirdAge Articles 10 January 2010 15:34 UTC www.thirdage.com [Source type: FILTERED WITH BAYES]
  • Northern Arizona Healthcare - Turner Syndrome 10 January 2010 15:34 UTC www.nahealth.com [Source type: Academic]
  • Turner Syndrome – UPMC, Pittsburgh, PA, USA 10 January 2010 15:34 UTC www.upmc.com [Source type: FILTERED WITH BAYES]
  • St. Joseph and Redwood Memorial Hospitals - Turner Syndrome 10 January 2010 15:34 UTC stjosepheureka.myhospitalwebsite.com [Source type: Academic]

^ Coarctation (a narrowing) of the major blood vessel from the heart, and heart valve problems occur in 16 23% of TS. You can be born with or without these problems, you do not catch it later.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

However, bicuspid valves are more likely to deteriorate and later fail. .Calcification also occurs in the valves,[11] which may lead to a progressive valvular dysfunction as evidenced by aortic stenosis or regurgitation.^ However, it may occur in combination with other anomalies, particularly aortic coarctation, and, as it calcifies, may result in progressive valvular dysfunction, as evidenced by aortic stenosis or regurgitation.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Pubertal development may be delayed if it occurs at all, and, in most cases, is followed by progressive premature ovarian failure.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Supporting features of abnormal valves included doming, thickening, or redundancy of leaflets, eccentric closure, or the presence of significant aortic regurgitation.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

[12]
.With a prevalence from 12.5%[9] to 17.5% (Dawson-Falk et al., 1992), bicuspid aortic valve is the most common congenital malformation affecting the heart in this syndrome.^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Roberts WC. The congenitally bicuspid aortic valve.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Bicuspid aortic valve is the most common malformation, followed by coarctation of the aorta.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

.It is usually isolated but it may be seen in combination with other anomalies, particularly coarctation of the aorta.^ Seen with coarctation of the aorta and aortic aneurysm.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ However, it may occur in combination with other anomalies, particularly aortic coarctation, and, as it calcifies, may result in progressive valvular dysfunction, as evidenced by aortic stenosis or regurgitation.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

Coarctation of the aorta
.Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery and opposite to the duct (and so termed “juxtaductal”).^ Dissection of the aorta in Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ [Aortic aneurysm complicated with coarctation of the aorta and Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Dissecting aneurysm of the aorta in Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.Estimates of the prevalence of this malformation in patients with Turner syndrome ranges from 6.9%[9] to 12.5% (Dawson-Falk et al., 1992).^ In the recent large study by Sybert, it was shown that cardiac malformations are more prevalent among the subgroup of patients with 45,X (39%), than among those with karyotypes that include an isochromosome (Xq) (11-12%) (mosaic or not) (59).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.A coarctation of the aorta in a female is suggestive of Turner syndrome, and suggests the need for further tests, such as a karyotype.^ Are females with Turner Syndrome mentally retarded?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Dissection of the aorta in Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ [Aortic aneurysm complicated with coarctation of the aorta and Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

Partial anomalous venous drainage
.This abnormality is a relatively rare congenital heart disease in the general population.^ Goldmuntz E. The epidemiology and genetics of congenital heart disease.

^ The malformations normally involve both vessels of the left and the right side of the heart, and show a very characteristic pattern when compared with the general population.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Congenital renal anomalies are approximately 9 times more common in females with TS compared with the general population ( 59 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.The prevalence of this abnormality also is low (around 2.9%) in Turner syndrome.^ Robinson A. Demography and prevalence of Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.

.However, its relative risk is 320 in comparison with the general population.^ These are the same risk factors that are associated with aortic root dilatation in the general population.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Glucose Intolerance Glucose intolerance occurs more frequently in persons with Turner syndrome than in the general population; however, diabetes mellitus seems to be rare.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ The risk of developing osteoporosis in women with Turner syndrome is 10-fold greater than that of the general population.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous drainage.^ Karyotypes commonly associated with Turner syndrome .

^ Other less common but still significant cardiovascular defects in individuals with Turner syndrome are mitral valve prolapse, partial anomalous pulmonary venous drainage, and hypoplastic left heart syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Moore JW, Kirby WC, Rogers WM, Poth MA. Partial anomalous pulmonary venous drainage associated with 45,X Turner's syndrome.

[9][13]
.In the management of a patient with Turner syndrome it is essential to keep in mind that these left-sided cardiovascular malformations in Turner syndrome result in an increased susceptibility to bacterial endocarditis.^ She needs to keep it in mind but not become the syndrome.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

^ Morbidity is increased in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Sybert VP. Cardiovascular malformations and complications in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.Therefore prophylactic antibiotics should be considered when procedures with high risk endocarditis are performed, such as dental cleaning.^ Many of these malformations result in an increased susceptibility to endocarditis, and therefore, prophylactic administration of antibiotics before dental or surgical procedures is essential.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ All left-sided cardiac anomalies associated with TS result in an increased susceptibility to infective endocarditis, and therefore prophylactic antibiotics before dental or surgical procedures are essential.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Regular audiological evaluation should therefore be routine in view of the high risk of both sensorineural and conductive hearing loss, as deafness can be quite profound before the symptom is volunteered.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

[12]
.Turner syndrome is often associated with persistent hypertension, sometimes in childhood.^ [Aortic dissection associated with Turner’s syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ JAMA 254:357 Knudtzon J, Svane S 1988 Turner’s syndrome associated with chronic inflammatory bowel disease.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The pediatrician’s first contact with a child with Turner syndrome may occur during infancy or childhood.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.In the majority of Turner syndrome patients with hypertension, there is no specific cause.^ Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there's no specific cure.

^ There is no known cure for Turner syndrome.

^ There is no connection between Turner Syndrome and mental retardation.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

.In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta.^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Aortic coarctation, providing it is the only cardiac abnormality, is usually surgically corrected in childhood with excellent results.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The association between abnormal aortic valve anatomy and proximal aortic abnormalities including coarctation and dilation has shaped the view of a common underlying developmental defect involving the aortic valve and the wall of the ascending aorta.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

Aortic dilation, dissection, and rupture

.Two studies have suggested aortic dilatation in Turner syndrome, typically involving the root of the ascending aorta and occasionally extending through the aortic arch to the descending aorta, or at the site of previous coarctation of the aorta repair.^ The ratio of diameter of the aortic root (a) to the descending aorta (b) is greater than 1.5.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Two studies have reported higher rates of fracture in adults with Turner syndrome at typical osteoporotic sites.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ The most frequent defects are left-sided anomalies, including coarctation of the aorta, bicuspid aortic valve, and aortic atresia.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

[14]
.
  • Allen et al., 1986 who evaluated 28 girls with Turner syndrome, found a significantly greater mean aortic root diameter in patients with Turner syndrome than in the control group (matched for body surface area).^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
    • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

    ^ Support groups of girls with Turner syndrome are especially helpful.
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

    ^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
    • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

    .Nonetheless, the aortic root diameter found in Turner syndrome patients were still well within the limits.^ Nail dysplasia is found in approximately 70% of patients with Turner syndrome.
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    ^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
    • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

    ^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

    [15]
  • .
  • This has been confirmed by the study of Dawson-Falk et al., 1992 who evaluated 40 patients with Turner syndrome.^ Aortic Valve Disease in Turner Syndrome -- Sachdev et al.
    • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

    ^ Turner's Syndrome in Adulthood -- Elsheikh et al.
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    ^ Of those who live, 17-45 % have cardiovascular malformations at birth (Landin-Wilhelmsen et al, 2001).

    [16] They presented basically the same findings: a greater mean aortic root diameter, which nevertheless remains within the normal range for body surface area.
.Sybert, 1998 points out that it remains unproven that aortic root diameters that are relatively large for body surface area but still well within normal limits imply a risk for progressive dilatation.^ Long-term data looking at the natural history of aortic root dilatation are required.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ These are the same risk factors that are associated with aortic root dilatation in the general population.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Although in most cases aortic dilatation precedes recognized aortic dissection, not all cases end in dissection and not all cases of dissection have antecedent aortic root dilatation.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

[17]
Prevalence of aortic abnormalities
.The prevalence of aortic root dilatation ranges from 8.8%[14] to 42%[12] in patients with Turner syndrome.^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Hypertension is a major risk factor for aortic root dilatation in women with Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Aortic dissection and myocardial infarction in a pregnant patient with Turner syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.Even if not every aortic root dilatation necessarily goes on to an aortic dissection (circumferential or transverse tear of the intima), complications such as dissection, aortic rupture resulting in death may occur.^ Aortic dissection and rupture in Turner syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Aortic root dilatation, present in 3% to 8% of patients with Turner syndrome, may lead to dissecting aneurysm, rupture, and death.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Aortic dilatation resulting in chronic aortic regurgitation and complicated by aortic dissection in a patient with Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.The natural history of aortic root dilatation is still unknown, but it is a fact that it is linked to aortic dissection and rupture, which has a high mortality rate.^ Long-term data looking at the natural history of aortic root dilatation are required.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Aortic dissection and rupture in Turner syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ The natural history of aortic root dilatation remains unknown, but the risk of aortic dissection or rupture may be as high as 60%; therefore, regular surveillance is recommended.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

[18]
.Aortic dissection affects 1% to 2% of patients with Turner syndrome.^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Turner’s syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Aortic dilation and dissection in Turner Syndrome.
  • Cardiovascular problems in Turner syndrome are a major concern 10 January 2010 15:34 UTC endocrinetoday.com [Source type: Academic]

.As a result any aortic root dilatation should be seriously taken into account as it could become a fatal aortic dissection.^ Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome Circulation 2007;116:1663-1670.
  • Aortic Valve Disease in Turner Syndrome -- Sachdev et al. 51 (19): 1904 -- Journal of the American College of Cardiology 10 January 2010 15:34 UTC content.onlinejacc.org [Source type: Academic]

^ Long-term data looking at the natural history of aortic root dilatation are required.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ These are the same risk factors that are associated with aortic root dilatation in the general population.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

Routine surveillance is highly recommended.[12]
Risk factors for aortic rupture
.It is well established that cardiovascular malformations (typically bicuspid aortic valve, coarctation of the aorta and some other left-sided cardiac malformations) and hypertension predispose to aortic dilatation and dissection in the general population.^ Patients with bicuspid aortic valve, aortic stenosis, coarctation of the aorta, or systemic hypertension need close follow-up for aortic dilatation.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Bicuspid aortic valve, coarctation of the aorta, and systemic hypertension have been identified in approximately 90% of patients with aortic dilatation and dissection.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Cardiovascular abnormalities typically involve the left side of the heart.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

.At the same time it has been shown that these risk factors are common in Turner syndrome.^ In approximately 80% of girls with 45,X Turner syndrome, the single remaining X chromosome is inherited from the mother, and in 20% of these girls, it is inherited from the father.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Hypertension, an abnormal aortic valve, and other left-sided cardiac malformations have been shown to predispose to aortic dissection in Marfan’s syndrome and the general population ( 138 , 139 ), and in TS these risk factors are present in more than 90% of females who develop aortic dilatation ( 136 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The relative risk (RR) of an endocrine diagnosis in Turner syndrome patients is increased to 4.9, being accounted for by an increased risk of hypothyroidism (RR 5.8), thyroiditis (RR 16.6), type 1 diabetes (RR 11.6), and type 2 diabetes (RR 4.4).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.Indeed these same risk factors are found in more than 90% of patients with Turner syndrome who develop aortic dilatation.^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Turner syndrome is more common prenatally.

^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.Only a small number of patients (around 10%) have no apparent predisposing risk factors.^ Unlike with Down syndrome, maternal age does not increase the risk of Turner syndrome, and there are no clearly established risk factors.
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

^ Importantly, most case reports that listed no risk factors did not explicitly exclude them.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ No risk factors were reported in 21% (18/85) overall ( table 1 ).
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.It is important to note that the risk of hypertension is increased 3-fold in patients with Turner syndrome.^ Morbidity is increased in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ C. Hypertension The risk of hypertension is increased 3-fold in women with TS ( 59 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Girls with Turner syndrome also have an increased risk of scoliosis, kyphosis, and lordosis.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.Because of its relation to aortic dissection blood pressure needs to be regularly monitored and hypertension should be treated aggressively with an aim to keep blood pressure below 140/80 mmHg.^ Hypertension should be treated aggressively with an aim to keep the blood pressure below 140/80.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ At every visit blood pressure should be monitored.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Hypertension is more common in young women with TS, and this should be monitored and treated aggressively.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.It has to be noted that as with the other cardiovascular malformations, complications of aortic dilatation is commonly associated with 45,X karyotype.^ As with other structural cardiac anomalies, it is most commonly associated with 45,X karyotype.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The frequency of renal malformations is higher in females with 45,X monosomy but the association is weak and renal disease may occur with any karyotype ( 185 , 188 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ These are the same risk factors that are associated with aortic root dilatation in the general population.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

[12]
Pathogenesis of aortic dissection and rupture
.The exact role that all these risk factors play in the process leading to such fatal complications is still quite unclear.^ The current hypothesis is that the SHOX protein, which is expressed by these cells, may be playing a role in chondrogenesis, the formation of cartilage.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ These are the same risk factors that are associated with aortic root dilatation in the general population.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ It may be postulated that gonadotropins play a stimulatory role in the pathogenesis of gonadoblastoma; however, this is unlikely as other disorders associated with elevated gonadotropins, such as 45,X monosomy and Klinefelter’s syndrome, are not associated with an excessive risk of gonadal neoplasia.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.Aortic root dilatation is thought to be due to a mesenchymal defect as pathological evidence of cystic medial necrosis has been found by several studies.^ The observation of cystic medial necrosis in individuals with aortic root dilatation has led some to postulate that the aortic abnormality may be caused by a mesenchymal defect.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Aortic root dilatation is thought to be due to a mesenchymal defect ( 136 ), as pathological evidence of cystic medial necrosis has been found by several investigators.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Aortic root dilatation .
  • Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician 10 January 2010 15:34 UTC www.aafp.org [Source type: Academic]

.The association between a similar defect and aortic dilatation is well established in such conditions such as Marfan syndrome.^ It is essential to recognize such features, since early diagnosis is necessary to prevent associated morbidities and to maximize the growth and development of girls with Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Prophylactic ß-blockers or calcium antagonists have been used in Marfan’s syndrome to halt the progression of aortic root dilatation with some success ( 144 , 145 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Aortic root dilatation is thought to occur with a prevalence estimated to be between 8 and 42% ( 134 , 135 , 136 , 137 ), although not every aortic root dilation necessarily goes on to dissect.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner syndrome.^ Knee abnormalities have been reported in up to 60% of patients with Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Other less common but still significant cardiovascular defects in individuals with Turner syndrome are mitral valve prolapse, partial anomalous pulmonary venous drainage, and hypoplastic left heart syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ This contention is supported by the evidence of other connective tissue abnormalities, such as those involving the skeletal and lymphatic systems, in patients with Turner syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

[14] .However there is no evidence to suggest that patients with Turner syndrome have a significantly higher risk of aortic dilatation and dissection in absence of predisposing factors.^ There is no known cure for Turner syndrome.
  • Turner Syndrome | Lifescript.com 10 January 2010 15:34 UTC www.lifescript.com [Source type: General]
  • Tufts Medical Center - Turner Syndrome 10 January 2010 15:34 UTC www.tufts-nemc.org [Source type: Academic]
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medical sales, personal statement medical school, new england medical center, medical device development, ge medical 10 January 2010 15:34 UTC www.hospitalium.com [Source type: Academic]

^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Turner’s syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.So the risk of aortic dissection in Turner syndrome appears to be a consequence of structural cardiovascular malformations and hemodynamic risk factors rather than a reflection of an inherent abnormality in connective tissue (Sybert, 1998).^ Prevalence of renal malformation in Turner syndrome.
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]

^ [A dissecting aortic aneurysm in a female patient with Turner syndrome].
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Turner’s syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.The natural history of aortic root dilatation is unknown, but because of its lethal potential, this aortic abnormality needs to be carefully followed.^ The cause of the abnormal aortic valve is unknown.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Long-term data looking at the natural history of aortic root dilatation are required.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Additional research is needed to determine whether an abnormality of the X chromosome may affect collagen synthesis and be responsible for the connective tissue abnormalities seen in TS. The influence of estrogens on the natural history of aortic dilatation is unknown.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

Pregnancy
.Turner syndrome is characterized by primary amenorrhea, premature ovarian failure, streak gonads and infertility.^ Indicate that infertility is almost always present, although assisted reproduction techniques may enable infertile women with Turner syndrome to have children.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Davies MC, Gulekli B, Jacobs HS. Osteoporosis in Turner's syndrome and other forms of primary amenorrhoea.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.However, today's technology (especially with oocyte donation) provide the opportunity of pregnancy in these patients.^ Approximately 3% of the pregnancy start with 45,XO embryos, however up to 99% of these embryos are spontaneously miscarried [3] , most of them during the first trimester [4] .
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Key words: endometrium/miscarriage/oocyte donation/pregnancy/Turner's syndrome .
  • Turner's syndrome and pregnancies after oocyte donation -- Foudila et al. 14 (2): 532 -- Human Reproduction 10 January 2010 15:34 UTC humrep.oxfordjournals.org [Source type: Academic]

^ Pregnancy and implantation rates after oocyte donation were high in women with Turner's syndrome, but the risk of cardiovascular and other complications is high.
  • Turner's syndrome and pregnancies after oocyte donation -- Foudila et al. 14 (2): 532 -- Human Reproduction 10 January 2010 15:34 UTC humrep.oxfordjournals.org [Source type: Academic]

.As more women with Turner syndrome complete pregnancy thanks to the new modern techniques to treat infertility, it has to be noted that pregnancy may be a risk of cardiovascular complications for the mother.^ Sybert VP. Cardiovascular malformations and complications in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Pregnancy is a rare event in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Women with Turner syndrome who do achieve pregnancy have a substantially higher risk for abnormal pregnancies.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Indeed several studies had suggested an increased risk for aortic dissection in pregnancy.^ Aortic root dilatation often develops before the administration of exogenous estrogens, and there have been no reports to suggest any deterioration after HRT. However, pregnancy certainly increases the risk of progression to aortic dissection ( 118 , 119 , 141 ), although this may be due to the increased hemodynamic load rather than the high estrogen state.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Prospective studies are needed in order to establish the exact risk of aortic dissection, identify patients at an elevated risk, and, if possible, to introduce procedures and/or medicine to lower the risk, both during pregnancy and during normal life.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Gravholt and colleagues ( 59 ) calculated a 2-fold increase in risk of developing IBD in women with TS. However, other studies found the risk to be even greater.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

[14] .Three deaths have even been reported.^ At least three deaths have been reported in pregnant women with TS from aortic dissection ( 119 , 120 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

The influence of estrogen has been examined but remains unclear. .It seems that the high risk of aortic dissection during pregnancy in women with Turner syndrome may be due to the increased hemodynamic load rather than the high estrogen rate.^ High-risk pregnancy .
  • Noonan Syndrome -- GeneReviews -- NCBI Bookshelf 10 January 2010 15:34 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Morbidity is increased in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Women with Turner syndrome have a high frequency of elevated liver parameters.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

[12] .Of course these findings are important and need to be remembered while following a pregnant patient with Turner syndrome.^ Ocular findings in Turner syndrome.
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]

^ Follow-up: Turner Syndrome .
  • Turner Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 10 January 2010 15:34 UTC emedicine.medscape.com [Source type: Academic]

^ Aortic dissection and myocardial infarction in a pregnant patient with Turner syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

.Cardiovascular malformations in Turner syndrome are also very serious, not only because of their high prevalence in that particular population but mainly because of their high lethal potential and their great implication in the increased mortality found in patients with Turner syndrome.^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Prevalence of renal malformation in Turner syndrome.
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]

^ Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome.
  • Management of Turner syndrome (gonadal dysgenesis) 10 January 2010 15:34 UTC patients.uptodate.com [Source type: Academic]

.Congenital heart disease needs to be explored in every female newly diagnosed with Turner syndrome.^ Are females with Turner Syndrome mentally retarded?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Every female with turner's is affected differently by it.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

^ Turner syndrome can be diagnosed at any stage of life.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.drexelmed.edu [Source type: Academic]

.As adults are concerned close surveillance of blood pressure is needed to avoid a high risk of fatal complications due to aortic dissection and rupture.^ New York: Marcel Dekker; 281–300 Birdsall M, Kennedy S 1996 The risk of aortic dissection in women with Turner syndrome.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Women with TS who do become pregnant may be at increased risk from cardiovascular complications, particularly aortic root dissection ( Section VII.B ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Primary care pediatricians and pediatric cardiologists need to be aware of the risk of aortic dissection and educate their patients with Turner syndrome about the signs and symptoms of this complication.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

Skeletal

.Normal skeletal development is inhibited due to a large variety of factors, mostly hormonal.^ Our data have uncovered its important role as a regulator of normal and abnormal development in specific tissues that correlate with the skeletal defects seen in Turner syndrome.
  • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome -- Clement-Jones et al. 9 (5): 695 -- Human Molecular Genetics 10 January 2010 15:34 UTC hmg.oxfordjournals.org [Source type: Academic]

^ Cubitus valgus (increased carrying angle): This is a common skeletal anomaly in girls due to abnormal development of the trochlear head.
  • Turner Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 10 January 2010 15:34 UTC emedicine.medscape.com [Source type: Academic]

^ This gene encodes the alpha subunit of the receptor of granulocyte-macrophage colony-stimulating factor (GMCSF NM_000758) which is essential for normal placental development [40] .
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

.The average height of a woman with Turner syndrome, in the absence of growth hormone treatment, is 4'7", about 140 cm.^ Growth chart for children with Turner syndrome.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Growth hormone therapy of Turner’s syndrome: beneficial effect on adult height.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

.The fourth metacarpal bone (fourth toe and ring finger) may be unusually short, as may the fifth.^ Clinically, she presented a bilateral Madelung deformity, cubitus valgus and hypoplastic short fourth metacarpals.
  • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome -- Clement-Jones et al. 9 (5): 695 -- Human Molecular Genetics 10 January 2010 15:34 UTC hmg.oxfordjournals.org [Source type: Academic]

^ Shortening of the fourth and sometimes the fifth metacarpal, which is present in 35% of patients, [3] is the most notable anomaly of the hands in Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Due to inadequate production of estrogen, many of those with Turner syndrome develop osteoporosis.^ Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.
  • HOSPITALIUM >Health Contents>Turner Syndrome - Online Health Center Platform of The World...Turner Syndrome hospital, nhs, hospitals, deaconess, convalescent, birthing, hospitales, hospital scrubs, hospital job, hospital employment, hospital beds, hospital insurance, hospital statistics, hospital equipment, harris methodist hospital, hospital training, hospital privacy curtain, new york presbyterian hospital, portland oregon hospital, general hospital, colorado hospital, north shore hospital, hospital tacoma, toledo hospital, hospital housekeeping, beaufort naval hospital, hospital st paul, providence hospital, hospital bed rental, las vegas hospital, nebraska hospital, indianapolis hospital, hospital directories, hospital security, jacksonville hospital, tulsa hospital, hospital idaho, hospital software, private hospital, hospital scheduling, hospital positions, hospital finance, wyoming hospital, florida hospital employment, heart hospital, hospital indemnity, hospital career, 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medical sales, personal statement medical school, new england medical center, medical device development, ge medical 10 January 2010 15:34 UTC www.hospitalium.com [Source type: Academic]

^ Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ "Brain development in Turner syndrome: a magnetic resonance imaging study."
  • Center for Interdisciplinary Research Sciences: Publications 10 January 2010 15:34 UTC spnl.stanford.edu [Source type: Academic]

.This can decrease height further, as well as exacerbate the curvature of the spine, possibly leading to scoliosis.^ Teenagers need to be assessed for scoliosis which is a curvature of the spine.
  • Turner's Syndrome | Health | Patient UK 10 January 2010 15:34 UTC www.patient.co.uk [Source type: FILTERED WITH BAYES]

^ Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis).
  • Turner syndrome 10 January 2010 15:34 UTC www.cnn.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.studentnews.cnn.com [Source type: FILTERED WITH BAYES]

.It is also associated with an increased risk of bone fractures.^ The risk of fracture was increased already in childhood.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Furthermore, the increased risk was largely restricted to forearm fractures.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ In summary, although delayed skeletal maturation and small bones may result in an underestimation of bone mineral density, women with TS are at increased risk for fractures, and thus all efforts should be made to treat underlying osteopenia.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

Kidney

Approximately one-third of all women with Turner syndrome have one of three kidney abnormalities:
  1. A single, horseshoe-shaped kidney on one side of the body.
  2. An abnormal urine-collecting system.
  3. Poor blood flow to the kidneys.
.Some of these conditions can be corrected surgically.^ These abnormalities, thought to occur as a result of fetal lymphedema, often require surgical correction.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Some girls with TS have one of these conditions.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

.Even with these abnormalities, the kidneys of most women with Turner syndrome function normally.^ However, most girls with Turner's syndrome have normal intelligence.
  • Turner's Syndrome | Health | Patient UK 10 January 2010 15:34 UTC www.patient.co.uk [Source type: FILTERED WITH BAYES]

^ Overall, life expectancy is only slightly reduced, most girls with Turner's syndrome have normal intelligence, and most have the potential to lead happy and full lives.
  • Turner's Syndrome | Health | Patient UK 10 January 2010 15:34 UTC www.patient.co.uk [Source type: FILTERED WITH BAYES]

^ In vitro fertilization (IVF) with a donor egg and an implanted pregnancy is sometimes possible in women with Turner syndrome.
  • CIGNA - Turner Syndrome 10 January 2010 15:34 UTC www.cigna.com [Source type: Academic]

.However, as noted above, kidney problems may be associated with hypertension.^ If the karotype blood test reveals that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome.

^ However, there are treatments for many of the associated problems.
  • Turner Syndrome | Lifescript.com 10 January 2010 15:34 UTC www.lifescript.com [Source type: General]

^ It may also have an adverse effect on lipid metabolism through its effect on hepatic metabolism, and it may exacerbate hypertension, a common problem in TS. .
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

Thyroid

.Approximately one-third of all women with Turner syndrome have a thyroid disorder.^ Females with Turner syndrome are missing all or part of one X chromosome.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]

^ More than one-half of all patients with Turner syndrome have a mosaic chromosomal complement (eg, 45,X/46,XX) [ 13-15 ].
  • Clinical manifestations and diagnosis of Turner syndrome 10 January 2010 15:34 UTC www.uptodate.com [Source type: Academic]

^ Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire.
  • Turner Syndrome Support Group - DailyStrength 10 January 2010 15:34 UTC www.dailystrength.org [Source type: General]

.Usually it is hypothyroidism, specifically Hashimoto's thyroiditis.^ Autoimmune hypothyroidism (Hashimoto thyroiditis) may develop insidiously, with or without goiter.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

If detected, it can be easily treated with thyroid hormone supplements.

Diabetes

.Women with Turner syndrome are at a moderately increased risk of developing type 1 diabetes in childhood and a substantially increased risk of developing type 2 diabetes by adult years.^ Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
  • Turner syndrome 10 January 2010 15:34 UTC www.cnn.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC edition.cnn.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.studentnews.cnn.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC premium.edition.cnn.com [Source type: FILTERED WITH BAYES]
  • OhioHealth - Turner syndrome 10 January 2010 15:34 UTC www.ohiohealth.com [Source type: FILTERED WITH BAYES]

^ Acute type A aortic dissection in an adult patient with Turner’s syndrome.
  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature 10 January 2010 15:34 UTC jmg.bmj.com [Source type: Academic]

^ Morbidity is increased in Turner syndrome.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.The risk of developing type 2 diabetes can be substantially reduced by maintaining a normal weight.^ Type 2 diabetes mellitus (DM) is 2–4 times more common in women with TS compared with the general population ( 59 , 152 ) and tends to develop at a younger age.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ (Studies have provided conflicting results regarding the risk of type I diabetes in these patients).
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Since obesity increases the risk for insulin resistance, patients should be encouraged to maintain their weight within an appropriate range for their height.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

Cognitive

.Turner syndrome does not typically cause mental retardation or impair cognition.^ Are females with Turner Syndrome mentally retarded?
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ There is no connection between Turner Syndrome and mental retardation.
  • Turner Syndrome Society 10 January 2010 15:34 UTC www.med.nus.edu.sg [Source type: FILTERED WITH BAYES]

^ Mental retardation is not connected to the syndrome.
  • Journal of Negative Results in BioMedicine | Full text | Immunological parameters in girls with Turner syndrome 10 January 2010 15:34 UTC www.jnrbm.com [Source type: Academic]

.However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder.^ Evaluate the child for possible developmental delay and learning difficulties, particularly spatial perception problems.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Indicate that infertility is almost always present, although assisted reproduction techniques may enable infertile women with Turner syndrome to have children.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Sylven L, Hagenfeldt K, Ringertz H. Bone mineral density in middle-aged women with Turner's syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.This may also manifest itself as a difficulty with motor control or with mathematics.^ Difficulties in school with mathematics and geometry that can lead to trouble reading maps and following directions, which may pose a significant challenge for daily life.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ In addition, some girls may experience learning difficulties, particularly in the subject of mathematics.

^ Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in mathematics.
  • Turner Syndrome 2008-09-01 00:00:00.0 10 January 2010 15:34 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

.While it is non-correctable, in most cases it does not cause difficulty in daily living.^ The resulting infertility is not correctable, in most cases.
  • High-Risk Newborns - Turner Syndrome, Robert Wood Johnson University Hospital, New Brunswick, NJ, 08903 10 January 2010 15:34 UTC www.rwjuh.edu [Source type: FILTERED WITH BAYES]
  • Turner Syndrome 10 January 2010 15:34 UTC www.childrenscentralcal.org [Source type: Academic]

^ If it was not available in the city where I live (which is the case for most women) I would have had to travel out of state or wait until the second-trimester for an amniocentesis.

^ Like others have stated before, TS does not cause behavioral difficulties, and it is most certainly not a condition I 'suffer' from!
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

.Most Turner Syndrome patients are employed as adults and lead productive lives.^ Moreover, among the Turner's syndrome patients more than 50% are mosaic (e.g.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Cardiovascular Abnormalities The prevalence of cardiovascular abnormalities among patients with Turner syndrome varies in different series between 20% and 40%.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ The relative risk (RR) of an endocrine diagnosis in Turner syndrome patients is increased to 4.9, being accounted for by an increased risk of hypothyroidism (RR 5.8), thyroiditis (RR 16.6), type 1 diabetes (RR 11.6), and type 2 diabetes (RR 4.4).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.There is also a rare variety of Turner Syndrome, known as "Ring-X Turner Syndrome", which has an approximate 60 percent association with mental retardation.^ There is no known cure for Turner syndrome.
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medical sales, personal statement medical school, new england medical center, medical device development, ge medical 10 January 2010 15:34 UTC www.hospitalium.com [Source type: Academic]

^ JAMA 254:357 Knudtzon J, Svane S 1988 Turner’s syndrome associated with chronic inflammatory bowel disease.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ All of your attitudes on life are so positive- i support all women with Turner's syndrom out there.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

.This variety accounts for approximately 2 - 4% of all Turner Syndrome cases.^ In approximately 80% of girls with 45,X Turner syndrome, the single remaining X chromosome is inherited from the mother, and in 20% of these girls, it is inherited from the father.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ The relative risk (RR) of an endocrine diagnosis in Turner syndrome patients is increased to 4.9, being accounted for by an increased risk of hypothyroidism (RR 5.8), thyroiditis (RR 16.6), type 1 diabetes (RR 11.6), and type 2 diabetes (RR 4.4).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ This accounts for about 60% of all diagnosed Turner syndrome cases and is referred to as 45, X. These girls are the most seriously affected.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

[19]

Reproductive

.Women with Turner syndrome are almost universally infertile.^ Women with Turner syndrome that survive to adolescence are almost universally infertile.

^ Women with Turner syndrome who wish to become pregnant may consider using a donor egg.
  • Turner Syndrome - Kosmix : Reference, Videos, Images, News, Shopping and more... 10 January 2010 15:34 UTC www.kosmix.com [Source type: FILTERED WITH BAYES]
  • Turner syndrome 10 January 2010 15:34 UTC www.drexelmed.edu [Source type: Academic]

^ The aim of the present study was to determine whether women with Turner syndrome have an altered muscle fiber composition and capillarization.
  • Muscle Fiber Composition and Capillary Density in Turner Syndrome — Diabetes Care 10 January 2010 15:34 UTC care.diabetesjournals.org [Source type: Academic]

.While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45,X.[20][21] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner Syndrome or Down Syndrome.^ The risk of developing osteoporosis in women with Turner syndrome is 10-fold greater than that of the general population.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ Cubitus valgus occurs in about 45% of girls with Turner syndrome.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

^ The prototypical karyotype of a textbook female with Turner syndrome is 45,X; i.e.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

[22] .Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.^ Some are able to spontaneously with no medical intervention.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

^ Discuss the treatments and interventions available, such as growth-enhancing therapy and sex hormone replacement, and emphasize that with medical supervision and psychosocial counseling and support, girls with Turner syndrome may lead healthy, satisfying lives.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ There are many challenges faced by women who have TS. Some of these challenges require a lot of medical assistance while others only require small alterations to the sufferer's daily life.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

[23]
.Usually estrogen replacement therapy is used to spur growth of secondary sexual characteristics at the time when puberty should onset.^ Estrogen replacement should be individualized.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ A. Sex hormone replacement therapy The majority of women with TS require long-term estrogen replacement therapy.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The onset of symptoms often coincides with the onset of estrogen therapy ( 250 , 251 , 252 ).
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

.While very few women with Turner Syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining ("withdrawal bleeding") to prevent its overgrowth.^ A. Sex hormone replacement therapy The majority of women with TS require long-term estrogen replacement therapy.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ The anthropometrical composition of women with Turner syndrome is very distinct; Turner females are primarily growth retarded via the longitudinal axis, while the horizontal measurements are comparable to those of control females (33-35).
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ The overall incidence of spontaneous puberty in girls with Turner syndrome is 12%.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

.Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires.^ Strabismus usually occurs between the ages of 6 months and 7 years but is most often first noted around two-and-a-half years of age.
  • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

Estrogen therapy does not make a woman with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus must be maintained with estrogen if an eligible woman with Turner Syndrome wishes to use IVF.
.Turner syndrome is a cause of primary amenorrhea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility.^ TS can cause early ovarian failure.
  • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

^ Indicate that infertility is almost always present, although assisted reproduction techniques may enable infertile women with Turner syndrome to have children.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

^ Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.Failure to develop secondary sex characteristics (sexual infantilism) is typical.^ Evaluate the adolescent for development of secondary sex characteristics.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

^ Bone status and secondary sex characteristics should be monitored.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

^ Doses should be individualized starting with very low doses of estrogen as monotherapy, which may be monitored in terms of the development of secondary sex characteristics, serum LH and FSH, bone maturation or uterine volume.
  • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

.Especially in mosaic cases of Turner syndrome that contains Y chromosome (eg 45,X0/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended.^ Approximately 6% of women with TS have 45,X/46,XY mosaicism ( 31 ) and are at increased risk of developing a gonadoblastoma.
  • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

^ Turner's syndrome (caused by monosomy of chromosome X) is one of the most common chromosomal abnormalities in females.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ Turner's Syndrome results from X chromosome monosomy.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

Treatment

.As a chromosomal condition, there is no cure for Turner syndrome.^ Turner syndrome is a chromosomal condition that alters development in females.
  • What Is Turner Syndrome? 10 January 2010 15:34 UTC www.iifar.org [Source type: Academic]

^ Turner's Syndrome results from X chromosome monosomy.
  • PLoS ONE: Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells 10 January 2010 15:34 UTC www.plosone.org [Source type: Academic]

^ In approximately 80% of girls with 45,X Turner syndrome, the single remaining X chromosome is inherited from the mother, and in 20% of these girls, it is inherited from the father.
  • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]

However, much can be done to minimize the symptoms. For example:[24]
.
  • Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height.^ Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens.
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    ^ Keywords: Adult height; Androgens; Cardiovascular diseases; Epidemiology; Estrogens; Glucose metabolism; Genes; Growth; Growth hormone; Hypertension; Insulin-like growth factor I; Insulin resistance; Ischemic heart disease; Liver function; Morbidity; Mortality; Puberty; Thyroid function; Turner syndrome .
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    ^ The use of oxandrolone therapy in relatively high doses to increase final height may further exacerbate insulin resistance ( 162 ), resulting in glucose intolerance in 44% of oxandrolone-treated females with TS ( 147 ).
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    .Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.^ Growth chart for children with Turner syndrome.
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

    ^ Childhood: spontaneous growth hormone (GH) secretion is normal in girls with Turner syndrome (see dots in left section).
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    ^ Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.
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manufacturers, medical transcrption, medical instruments, medical translation, medical magnets, medical record coding, medical terminology, medical billing company, medical escort, medical stores, medical information, medical supply, medical practice management, medical seminars,medical malpractice, medical school foreign, medical billers, medical abbreviations, medical collection, medical equipment suppliers, medical problems, medical study, medical spa, harvard medical school, medical terms, individual medical, medical college, medical shoe, medical images, a medical dictionary, medical practice marketing, medical questions, medical funding, medical careers, medical vocabulary, medical journal, medical records, valley medical center, mercy medical center, medical diagnosis, medical illustrator, medical graphics, medical lab technician, medical kits, emergency medical technician, doctors ithout borders, medical plastics, image medical, medical transcriptionist, medical alert, 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medical sales, personal statement medical school, new england medical center, medical device development, ge medical 10 January 2010 15:34 UTC www.hospitalium.com [Source type: Academic]

    [24][25] There is evidence that this is effective, even in toddlers.[26]
  • .
  • Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics.^ A. Sex hormone replacement therapy The majority of women with TS require long-term estrogen replacement therapy.
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    ^ The timing of estrogen therapy initiation is considered on an individual basis and takes into account age-appropriate pubertal development and further growth potential.
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    ^ The role of estrogens in the protection against colonic cancer remains tentative, but studies have shown that rates of colon cancer can be halved in postmenopausal women by estrogen replacement therapy ( 109 , 110 ).
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    .Estrogens are crucial for maintaining good bone integrity and tissue health.^ After adolescence, estrogen replacement therapy seems to be the single most important factor in maintaining peak bone mass.
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    [24] .Women with Turner Syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis.
  • Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire.^ The overall incidence of spontaneous puberty in girls with Turner syndrome is 12%.
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    ^ Women with Turner syndrome who do achieve pregnancy have a substantially higher risk for abnormal pregnancies.
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    ^ Support groups of girls with Turner syndrome are especially helpful.
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

    .For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.^ So in the tri-college community, there may be at least one woman with Turner's Syndrome (TS).
    • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

    ^ Ross JL, Roeltgen D, Feuillan P, Kushner H, Cutler GB, Jr. Use of estrogen in young girls with Turner syndrome: effects on memory.
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    ^ Part of the increased cardiovascular morbidity and mortality in Turner syndrome could therefore be explained by non-use of estrogens.
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    [24]
  • .
  • Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy.^ "Amygdalar activation associated with positive and negative facial expressions."
    • Center for Interdisciplinary Research Sciences: Publications 10 January 2010 15:34 UTC spnl.stanford.edu [Source type: Academic]

    ^ Osteoporosis may start earlier in TS sufferers because the women lack oestrogen so HRT (Hormone Replacement Therapy) may be considered to delay the onset of Osteoporosis (1) , (3) .
    • Turner's Syndrome-A Woman's Disease | Serendip's Exchange 10 January 2010 15:34 UTC serendip.brynmawr.edu [Source type: Original source]

    ^ Most females with TS are treated with hormonal replacement therapy (HRT) after induction of puberty, and this treatment has a moderate influence on carbohydrate metabolism (23).
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    [27]

See also

References

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  2. ^ Campbell, Neil. A; Brad Williamson, Robin J. Heyden (2006). Biology : Exploring Life. Boston, Massachusetts: Pearson Prentice Hall. ISBN 0-13-250882-6. 
  3. ^ [htttp://school.eb.com "Turner's Syndrome"]. Encyclopedia Britannica. Encyclopedia Britannica. htttp://school.eb.com. Retrieved 2009-03-24. 
  4. ^ Sybert VP, McCauley E (September 2004). "Turner's syndrome" ( – Scholar search). N. Engl. J. Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580. http://content.nejm.org/cgi/pmidlookup?view=short&pmid=15371580&promo=ONFLNS19. 
  5. ^ Rovet JF (May 1993). "The psychoeducational characteristics of children with Turner syndrome". J Learn Disabil 26 (5): 333–41. doi:10.1177/002221949302600506. PMID 8492052. 
  6. ^ http://www.nytimes.com/2009/09/15/science/15chrom.html?pagewanted=1&_r=1&hpw
  7. ^ Turner HH (1938). "A syndrome of infantilism, congenital webbed neck, and cubitus valgus". Endocrinology 23: 566–74. 
  8. ^ Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". The Lancet 273 (7075): 711–3. doi:10.1016/S0140-6736(59)91893-8. PMID 13642858. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T1B-49J95GR-DW&_user=10&_coverDate=04%2F04%2F1959&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=853bb25a0b51f31d72fcbbe51ad995ba. 
  9. ^ a b c d e f Mazzanti L, Cacciari E (Nov 1998). "Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS)". J. Pediatr. 133 (5): 688–92. PMID 9821430. http://linkinghub.elsevier.com/retrieve/pii/a93658. 
  10. ^ a b Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO (Nov 1994). "Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome". Arch Dis Child. 71 (5): 433–6. doi:10.1136/adc.71.5.433. PMID 7826114. 
  11. ^ Aortic Valve, Bicuspid at eMedicine
  12. ^ a b c d e f Elsheikh M, Dunger DB, Conway GS, Wass JA (Feb 2002). "Turner's syndrome in adulthood". Endocr. Rev. 23 (1): 120–40. doi:10.1210/er.23.1.120. PMID 11844747. http://edrv.endojournals.org/cgi/pmidlookup?view=long&pmid=11844747. 
  13. ^ Prandstraller D, Mazzanti L, Picchio FM, et al. (1999). "Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients". Pediatr Cardiol 20 (2): 108–12. doi:10.1007/s002469900416. PMID 9986886. http://link.springer-ny.com/link/service/journals/00246/bibs/20n2p108.html. 
  14. ^ a b c d Lin AE, Lippe B, Rosenfeld RG (Jul 1998). "Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome". Pediatrics 102 (1): e12. doi:10.1542/peds.102.1.e12. PMID 9651464. http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=9651464. 
  15. ^ Allen DB, Hendricks SA, Levy JM (Aug 1986). "Aortic dilation in Turner syndrome". J Pediatr. 109 (2): 302–5. PMID 3734967. 
  16. ^ Dawson-Falk KL, Wright AM, Bakker B, Pitlick PT, Wilson DM, Rosenfeld RG (Aug 1992). "Cardiovascular evaluation in Turner syndrome: utility of MR imaging". Australas Radiol 36 (3): 204–9. doi:10.1111/j.1440-1673.1992.tb03152.x. PMID 1445102. 
  17. ^ Sybert VP (Jan 1998). "Cardiovascular malformations and complications in Turner syndrome". Pediatrics 101 (1): E11. doi:10.1542/peds.101.1.e11. PMID 9417175. http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=9417175. 
  18. ^ Concha Ruiz M (2006). "Surgical treatment of the aortic root dilatation" (in Spanish; Castilian). An R Acad Nac Med (Madr) 123 (3): 557–68; discussion 569–71. PMID 17451098. 
  19. ^ Berkovitz G, Stamberg J, Plotnick LP, Lanes R (Jun 1983). "Turner syndrome patients with a ring X chromosome". Clin Genet. 23 (6): 447–53. PMID 6883789. 
  20. ^ Kaneko N, Kawagoe S, Hiroi M (1990). "Turner's syndrome--review of the literature with reference to a successful pregnancy outcome". Gynecol Obstet Invest. 29 (2): 81–7. PMID 2185981. 
  21. ^ Livadas S, Xekouki P, Kafiri G, Voutetakis A, Maniati-Christidi M, Dacou-Voutetakis C (2005). "Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins.". Fertility and Sterility. 83 (3): 769–72. doi:10.1016/j.fertnstert.2004.11.007. PMID 15749515. 
  22. ^ Nielsen J, Sillesen I, Hansen KB (1979). "Fertility in women with Turner's syndrome. Case report and review of literature". British journal of obstetrics and gynaecology 86 (11): 833–5. PMID 508669. 
  23. ^ Hovatta O (1999). "Pregnancies in women with Turner's syndrome". Ann Med. 31 (2): 106–10. doi:10.3109/07853899908998785. PMID 10344582. 
  24. ^ a b c d Turner Syndrome Society of the United States. "FAQ 6. What can be done?". https://www.turnersyndrome.org/index.php?option=com_content&task=view&id=29&Itemid=25. Retrieved 2007-05-11. 
  25. ^ Bolar K, Hoffman AR, Maneatis T, Lippe B (2008). "Long-term safety of recombinant human growth hormone in Turner syndrome". J. Clin. Endocrinol. Metab. 93 (2): 344–51. doi:10.1210/jc.2007-1723. PMID 18000090. 
  26. ^ Davenport ML, Crowe BJ, Travers SH, et al. (2007). "Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial". J Clin Endocrinol Metab. 92 (9): 3406–16. doi:10.1210/jc.2006-2874. PMID 17595258. 
  27. ^ "Uterine Development in Turner Syndrome". GGH Journal 24 (1). 2008. ISSN 1932-9032. http://gghjournal.com/volume24/1/ab12.cfm. 

Further reading

  • Bondy CA (2007). ."Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group".^ Support groups of girls with Turner syndrome are especially helpful.
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- AAP Policy 10 January 2010 15:34 UTC aappolicy.aappublications.org [Source type: Academic]
    • Health Supervision for Children With Turner Syndrome -- Frías et al. 111 (3): 692 -- Pediatrics 10 January 2010 15:34 UTC pediatrics.aappublications.org [Source type: Academic]

    ^ One study found elevated levels of hepatic enzymes in 80% of middle aged women with Turner syndrome, but could not associate the findings with overt hepatic disease (53).
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    ^ The overall incidence of spontaneous puberty in girls with Turner syndrome is 12%.
    • Turner Syndrome: Toward Early Recognition and Improved Outcomes: Turner Syndrome: Toward Early Recognition and Improved Outcomes 10 January 2010 15:34 UTC cme.medscape.com [Source type: Academic]

    .J Clin Endocrinol Metab. 92 (1): 10–25. doi:10.1210/jc.2006-1374.^ J Clin Endocrinol Metab 84:4510–4515 [Abstract/ Free  Full Text] Bachrach LK 1993 Bone mineralization in childhood and adolescence.
    • Turner's Syndrome in Adulthood -- Elsheikh et al. 23 (1): 120 -- Endocrine Reviews 10 January 2010 15:34 UTC edrv.endojournals.org [Source type: Academic]

    ^ J Clin Endocrinol Metab 2002 ;87:2798-808.
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    ^ J Clin Endocrinol Metab 1997 ;82:1810-3.
    • Arquivos Brasileiros de Endocrinologia & Metabologia - Epidemiological, endocrine and metabolic features in Turner syndrome 10 January 2010 15:34 UTC www.scielo.br [Source type: Academic]

    PMID 17047017. http://jcem.endojournals.org/cgi/content/full/92/1/10.
     

External links



Wiktionary

Up to date as of January 15, 2010

Definition from Wiktionary, a free dictionary

English

Noun

Singular
Turner syndrome
  1. A particular disease, caused usually by monosomy of a sex chromosome, and causing sterility and other problems.

External links


Citable sentences

Up to date as of December 27, 2010

Here are sentences from other pages on Turner syndrome, which are similar to those in the above article.








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