17 November 2004
Turner’s syndrome, Final height, Genes, Growth hormone, Insulin-like growth factor-I, Androgens, Oestrogens, Glucose metabolism, Cardiovascular diseases, Ischaemic heart disease, Hypertension, Insulin resistance, Morbidity, Mortality, Puberty
Several issues should be addressed when managing women with Turner’s syndrome. Female sex hormone substitution should be offered to help prevent the increased morbidity seen in Turner’s women, which consists of an increased risk of fractures and osteoporosis, and a clustering of diseases such as ischaemic heart disease, hypertension, stroke and type 2 diabetes, the latter entities being part of the insulin resistance syndrome. Furthermore, hypothyroidism is often seen, and the risk of type 1 diabetes may also be increased. Congenital malformations of the heart are frequently seen in Turner’s syndrome, possibly increasing the risk of dissecting aorta aneurism. Liver enzymes are often elevated and there may be an increased risk of liver cirrhosis. Mortality seems to be increased in Turner’s syndrome, women with the ‘pure’ 45,X karyotype being the most severely affected. In clinical practice, careful monitoring of glucose and bone metabolism, weight, thyroid function and blood pressure should be carried out. A cardiovascular risk profile should be determined and the patient informed of the risks and benefits of sex hormone replacement therapy. Sex hormone replacement therapy is highly recommended, although at present there are no longitudinal data documenting the long-term positive effect of sex steroid substitution. However, hypogonadism is expected to explain at least part of the decreased lifespan found in Turner’s syndrome. Since general physicians only encounter these patients infrequently, it is recommended that the care and treatment of Turner’s syndrome be centralized.