January - March 2012, Volume 8, Issue 1

Badiu C

Endocrine Management in Prader-Willi Syndrome

Acta Endo (Buc) 2012, 8 (1): 99-106
doi: 10.4183/aeb.2012.99

Prader Willi syndrome (PWS) is a genetic disorder (15q11-q13) characterized by short stature, hypogonadism leading to\r\nosteoporosis, delayed puberty, central hypocorticism and the most life threatening, excessive appetite which is followed by morbid obesity. Patients with PWS present reduced\r\nGH secretion, hypogonadotropic hypogonadism, abnormal appetite control and high pain threshold suggesting\r\nhypothalamic-pituitary dysfunction. However, all high resolution imaging studies are normal; due to changes in Chr\r\n15, the hypothalamic function is disrupted. All patients with PWS show severe disturbances in appetite control resulting in hyperphagia and obesity. Peptides involved in hypothalamic appetite control as ghrelin, leptin, NPY/AGRP, POMC, and their cognate receptors, are involved in developmental processes, determine the threshold for\r\nsignals of body fat below which increases in energy intake and reductions in energy expenditure. In addition, low GH and IGF1 level, central hypothyroidism, delayed puberty and central hypogonadism may impact upon the body composition. Despite the detailed knowledge about obesity mechanisms regulated at hypothalamic level, the pharmacological intervention is limited currently to substitution of proven\r\nendocrine deficiencies and GH treatment. The PWS brain seems "wired" for a positive energy balance, and very few\r\npathways can counterbalance this genetic imprinting.

Keywords: Prader Willi syndrome, genetic obesity, metabolic syndrome

Correspondence: Corin Badiu MD, Ph.D, ?C.I. Parhon? National Institute of Endocrinology, Aviatorilor 34-36, Bucharest 0011863, Romania, Email: badicrin@yahoo.co.uk