Abstract
IntroductionThe Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in region 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. ObjectiveTo review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults. DesignA review was made of 62 original articles published between 2000 and 2017 using the PubMed database. ResultsIn pediatric and adult PWS, rGH improves body morphology and composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life with few adverse effects. ConclusionsTreatment with rGH is effective and safe and improves quality of life in both children and adults with PWS.
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