Growth Hormone Therapy in Children with Prader-Willi Syndrome
Prader-Willi syndrome (PWS) , initially described by Prader, Willi, and Labhart in 1956, is characterized by obesity, hypotonia, hyperphagia, delayed motor skill acquisition, short stature, mental retardation, hypothalamic dysfunction, and hypogonadism. This article reviews 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 has not only improved stature but has also raised awareness of non-height effects of hGH therapy – improvements in body composition and increased physical strength and function and increased energy expenditure – which may exceed linear growth promotion in 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.
KeywordsPrader-Willi syndrome Growth hormone Body composition Strength Physical function Sleep-disordered breathing Cognitive development Imprinting
The authors wish to thank the important research collaboration of Drs. Susan Meyers and Barbara Whitman, as well as the invaluable help of our study coordinator, Heidi Luebke MS. This work has supported in part by NIH grant M01 RR03186-13S1 as well as funding from Pharmacia, Genentech Foundation for Growth and Development, and Pfizer.
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