Turner&amp;rsquo;s Syndrome &amp;ndash; Review of the Literature with Reference to a Successful Pregnancy Outcome

N, Kaneko; Kawagoe, Shinnosuke; Hiroi, Masahiko

doi:10.1159/000293307

Cited by 69 publications

(38 citation statements)

References 12 publications

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“…15,241 One series indicated that the risk for an abnormal pregnancy outcome in women with nonmosaic Turner syndrome could be as high as 50%, when taking into account miscarriage and stillbirth. 242 An earlier study had reported both on both fetal wastage (22/46), and chromosome abnormalities among liveborns (8/26), including 3 with trisomy 21. 243 Amniocentesis should be offered to women with Turner syndrome who conceive.…”

Section: Reproduction and Genetic Counselingmentioning

confidence: 99%

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin

Basson

Goldmuntz

et al. 2008

Genetics in Medicine

133

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Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. Genet Med 2008:10(7):469 -494.

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Section: Reproduction and Genetic Counselingmentioning

confidence: 99%

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin

Basson

Goldmuntz

et al. 2008

Genetics in Medicine

133

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“…Fertility is poor, however, and unassisted pregnancy occurs in only 2–4% of women [13, 26]. Of these, approximately one third end in spontaneous abortion or perinatal death, and a further third have chromosomal abnormalities, particularly Down’s or Turner’s, and congenital malformations [26, 27]. These figures are probably subject to publication bias and the outlook may improve with prospective monitoring, but genetic counselling at present should strike a balanced note of caution.…”

Section: Clinical Manifestations Of Turner Syndrome In Adultsmentioning

confidence: 99%

Adulthood in Women with Turner Syndrome

Ostberg

Conway²

2003

Horm Res Paediatr

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Turner syndrome, resulting from a complete or partial absence of one X chromosome, is the most commonly occurring chromosomal abnormality in females. Patients have traditionally been carefully followed in paediatric practice during childhood, but were often discharged to primary care on reaching adulthood. Adults with Turner syndrome are thought to have a reduced life expectancy, mainly due to excess cardiovascular risk, but they may also have multiple comorbidities including hypothyroidism, deafness, osteoporosis and the attendant problems of oestrogen deficiency and infertility. A multidisciplinary approach to focused adult care is needed, with consideration of how to optimise surveillance strategies in these women.

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“…Assisted reproduction has recently offered an opportunity for women with TS to become pregnant and bear children successfully. In many countries, oocyte donation is now a treatment option for infertility in TS women [3, 11, 12], but its success is conditional upon the development of a mature uterus [13, 14]. Thus, height gain and uterine development are apparently the two most important quality-of-life issues for adult women with TS.…”

Section: Introductionmentioning

confidence: 99%

The Uterine Length in Women with Turner Syndrome Reflects the Postmenarcheal Daily Estrogen Dose

et al. 2003

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Aim: To evaluate the effects of estrogen substitution on the uterine development in patients with Turner syndrome. Method: 57 women, aged 18.1–41.5 years, were treated with estrogen from puberty induction. Results: In 21 women (37%), the uterus developed to >65 mm in length. The daily estrogen dose correlated with both uterine length (r = 0.29; p < 0.05) and Tanner breast stage (r = 0.44; p < 0.001). A negative correlation between age at artificial menarche and uterine length was found (r = –0.29; p < 0.05). The endometrium thickness was greater in women with an uterus length >65 mm (p < 0.05). In 50% of the women (18 were evaluated), an adult-shaped uterus developed. Previous growth hormone therapy (n = 32) had no impact on the uterus length. Conclusions: The uterine development was suboptimal in most patients. Further investigation is needed to optimize estrogen therapy for uterine development in patients with Turner syndrome.

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Turner’s Syndrome – Review of the Literature with Reference to a Successful Pregnancy Outcome

Cited by 69 publications

References 12 publications

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Adulthood in Women with Turner Syndrome

The Uterine Length in Women with Turner Syndrome Reflects the Postmenarcheal Daily Estrogen Dose

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