Growth hormone and Prader-Willi syndrome

In the previous edition of this textbook, various lines of evidence for the occurrence of a defi ciency in the growth hormone (GH) axis were reviewed as one of several sections in a chapter entitled "Endocrine and Metabolic Aspects of Prader-Willi Syndrome."76 At that time, it was suggested that GH therapy may have benefi cial effects on growth and body composition in individuals with PWS. Over the succeeding decade, a number of scientifi c investigations have provided defi nitive evidence in support of these suggestions.16,37,72,73 In 2000, biosynthetic GH became the fi rst and, to date, only medication to receive regulatory approval for treatment of children with PWS. In addition, it appears that GH may also have potential utility in adults with PWS.61,86 This chapter presents a comprehensive review of relevant physiology and pathophysiology of the GH system and GH treatment effi cacy and safety in PWS.