Emerging Aspects of Turner Syndrome

Claus H Gravholt, Kirstine Stochholm, Line Cleemann, Kristian Havmand Mortensen
European Endocrinology, 2011;7(1):58-63

Abstract

Abstract
Turner syndrome is a genetic disorder caused by abnormalities of the X chromosome. It occurs in 50 in 100,000 live-born girls. Turner syndrome is associated with reduced adult height, gonadal dysgenesis and insufficient circulating levels of female sex steroids, leading to premature ovarian failure and infertility. Average intellectual performance is within the normal range. Treatment with growth hormone during childhood and adolescence allows a considerable gain in adult height. Short stature homeobox (SHOX) deficiency explains some of the phenotypic characteristics of Turner syndrome, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adulthood. Morbidity and mortality are increased throughout life, in particular as a result of congenital and acquired cardiovascular disease, type 2 diabetes, osteoporosis and thyroid disease. In summary, Turner syndrome is a condition associated with a number of diseases and conditions that calls for the attention of a multidisciplinary team.

Keywords
Turner syndrome, adult height, genes, growth, growth hormone, insulin-like growth factor I, androgens, oestrogens, glucose metabolism, cardiovascular diseases, ischaemic heart disease, hypertension, insulin resistance, morbidity, mortality, puberty, thyroid function, liver function, epidemiology

Disclosure: The authors have no conflicts of interest to declare.
Received: 22 September 2010 Accepted: 24 January 2011 Citation: European Endocrinology, 2011;7(1):58–63
Correspondence: Claus H Gravholt, Department of Endocrinology and Internal Medicine, Århus Sygehus NBG, DK-8000 Aarhus C, Denmark. E: ch.gravholt@dadlnet.dk
Keywords: Turner syndrome, adult height, genes, growth, growth hormone, insulin-like growth factor I, androgens, oestrogens, glucose metabolism, cardiovascular diseases, ischaemic heart disease, hypertension, insulin resistance, morbidity, mortality, puberty, thyroid function, liver function, epidemiology
Disclosure: The authors have no conflicts of interest to declare.
Received: September 22, 2010 Accepted January 24, 2011 Citation European Endocrinology, 2011;7(1):58-63
Correspondence: Claus H Gravholt, Department of Endocrinology and Internal Medicine, Århus Sygehus NBG, DK-8000 Aarhus C, Denmark. E: ch.gravholt@dadlnet.dk
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Since the description of Turner syndrome (TS) in 1938, a wealth of information has been added and our current understanding of the syndrome is continuously being broadened. The syndrome affects only females and care must include the close collaboration of several specialties such as genetics, embryology, paediatrics, gynaecology and obstetrics, endocrinology, cardiology, gastroenterology, otorhinonology and ophthalmology.

In this article, the focus is on the diverse clinical aspects, including epidemiology, endocrinology, cardiology, gastroenterology and gynaecology of the syndrome, with reference to recent genetic discoveries.

Diagnosis, Genetics and Epidemiology
There are no firm guidelines for the diagnosis of TS. However, the generally accepted cardinal stigmata include growth retardation with reduced adult height and, except in rare cases, gonadal insufficiency and infertility.

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