Endocrine Physiology and Therapy in Prader-Willi Syndrome

Many of the symptoms that make up the complex clinical picture of Prader-Willi Syndrome (PWS) point at derangements in hypothalamic function: short stature, hypogonadism, loss of appetite control, diminished pain sensitivity, excess sleepiness. Most of these symptoms were described in the original report of nine patients by Prader et al (1956), and confirmed by others (Jeffcoate et al, 1980; Bray et al, 1983). However, it has become evident that diabetes mellitus is not as common as was originally thought, and it has been argued that many of the endocrine problems are merely secondary to obesity. This chapter will give a brief review of the endocrine manifestations of PWS, against the background of our own comparison of PWS patients with a group of children and adolescents with “simple” obesity.