Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.

摘要: Prader-Willi syndrome is a genetic disorder occurring in 1 10,000-16,000 live-born infants. In the general population, approximately 60 people every 1,000,000 are affected. The condition characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity mortality high, probably as result of gross Most patients have reduced GH secretory capacity hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement and/or sex hormones may therefore be beneficial syndrome, several clinical trials now evaluated replacement therapy affected children. Results treatment been encouraging: improved growth, increased fat mass. There was also some evidence improvements respiratory function physical activity. long-term benefits are, however, still to established. Similarly, role hormone needs clarified few data exist on its efficacy potential benefits. summary, disabling associated deficiency hypogonadism. More active these endocrine disorders likely benefit individuals.