Affiliation:
1. Aarhus University Hospital, Denmark
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 frequent with the syndrome. Morbidity and mortality is increased. The average intellectual performance is within the normal range. With respect to epidemiology, cardiology, endocrinology and metabolism a number of recent studies have allowed new insight. Treatment with GH during childhood and adolescence allows a considerable gain in adult height. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adult years. The proper dose of HRT has not been established, and, likewise, benefits and/or drawbacks from HRT has 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 disease and conditions which are reviewed in present paper.
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Reference63 articles.
1. A syndrome of infantilism, congenital webbed neck, and cubitus valgus;Turner HH;Endocrinology,1938
2. Recommendations for the diagnosis and management of Turner syndrom;Saenger P;J Clin Endocrinol Metab,2001
3. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?;Held KR;Hum Genet,1992
4. Prenatal and postnatal prevalence of Turner’s syndrome: a registry study;Gravholt CH;Br Med J,1996
5. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Aarhus, Denmark;Nielsen J;Hum Genet,1991
Cited by
29 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献