Emerging aspects of Turner syndrome

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. © TOUCH BRIEFINGS 2011.