Growth Hormone Therapy in Children with Prader–Willi Syndrome

Prader–Willi syndrome (PWS), initially described in 1956 by Prader, Willi, and Labhart, is distinguished by obesity, hypotonia, hyperphagia, short stature, delayed motor skill acquisition, cognitive delays, hypothalamic dysfunction, and hypogonadism. This chapter reviews the causes of and potential treatments for impaired growth, body composition, and physical function observed in children with PWS. Growth failure due to PWS is an approved indication for recombinant human growth hormone (hGH) therapy, with disordered body composition being an additional hGH indication in Europe. Treatment of these children with hGH not only improves stature but also leads to nonheight effects including improved body composition, increased physical strength and function, and increased energy expenditure—which may exceed linear growth promotion in quality of life importance. hGH treatment benefits must be weighed against potential adverse effects, including rare occurrences of sudden death. This review summarizes recent evidence relevant to an informed benefit-risk analysis of hGH therapy in children with PWS.