Epidemiological, endocrine and metabolic features in Turner syndrome

Abstract

Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100 000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequently with the syndrome. Morbidity and mortality are increased. The average intellectual performance is within the normal range. A number of recent studies have provided new insights with respect to epidemiology, cardiology, endocrinology and metabolism. Treatment with GH during childhood and adolescence allows a considerable gain in adult height, although verylong-term consequences of this treatment are not clear. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during the adult years. The proper dose of hormone replacement therapy (HRT) has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of diseases and conditions which are reviewed in the present paper.

Sexual health needs of a patient with mosaic Turner's syndrome

“…1 It has been established that most women with Turner's syndrome do not carry the 'typical' karyotype of 45,X, but several different variants of the karyotype, all exhibiting the same clinical features. 2 It has been estimated that only about 1% of 45,X fetuses survive to term and that as many as 10% of spontaneous miscarriages have a 45,X karyocyte. 1 Short stature and gonadal dysgenesis are two characteristic features of the condition, but it is now recognised that the syndrome has a wide variety of features that are well documented in the literature.…”

“…The condition may be suspected when typical features are noted postnatally, but diagnosis is often delayed into childhood, adolescence and adulthood. 2 Despite its association with gonadal dysgenesis, 30% of girls affected with Turner's syndrome will undergo spontaneous puberty. 1,2 Concerns regarding future risk of osteoporosis and the emotional consequences of delayed puberty lead many clinicians to commence treatment with estrogen therapy fairly early in adolescence, and so affected girls may not know if they would have reached puberty spontaneously.…”

Disgenesias gonadais e tumores: aspectos genéticos e clínicos

“…Dentre as pacientes com ST, há um aparente aumento, ainda inexplicado, na freqüência de doenças auto-imunes, como tireoidite linfocítica crônica (tireoidite de Hashimoto), hipertireoidismo (doença de Graves), vitiligo e alopecia, além de obesidade, intolerância a glicose e diabetes mellitus, hiperlipemia e osteoporose (37,43).…”

Craniofacial morphology in Turner syndrome patientstreated with growth hormone

“…10 It is assumed that TS girls have short stature as a result of growth hormone or insulin-like growth factors resistance, even though they do not have classic growth hormone deficiency. 11 The lack of estrogen reduces speed of growth and skeletal maturation which is especially pronounced after the age of six or seven. 11 Growth disorders in TS girls, both skeletal and craniofacial, are complex and cannot be explained by the influence of any of these factors individually.…”