ESPE Abstracts

Prader-Willi syndrome (PWS) is a rare, neurodevelopmental, genetic disorder in adults characterized by muscular hypotonia, a different body composition with more body fat than muscle mass, hyperphagia, behavioral challenges and cognitive dysfunction. Endocrine deficiencies, including growth hormone (GH) deficiency, are common. In many countries GH is approved for treatment of children with genetically confirmed PWS, whereas treatment of adolescents and adults is only approved in a few countries. GH treatment in children with PWS has in numerous studies been shown to improve growth, body composition, metabolism, cognitive and motor development. Discontinuation of GH after final height has been reached resulted in an impaired body composition, which was reversed when GH treatment was reintroduced. In adults double-blind, randomized, placebo-controlled studies have consistently shown that GH treatment improves body composition. In addition, positive effects on physical capacity, blood lipids and quality of life have also been demonstrated. A few smaller observational studies of GH treatment for up to 22 years have shown a maintained beneficial effect on body composition. A slight increase in fasting glucose as well as dose dependent, transient edema but no major adverse effects have been reported during GH treatment. However, PWS is a complex, multisystemic disease and continuous, systematic and individual considerations are necessary during GH treatment, especially in patients who gain weight. In summary, GH treatment in adults with PWS has many beneficial effects and few side effects. GH treatment does not change the intrinsic abnormalities of PWS it but offers an opportunity to relieve some of the adverse consequences of PWS. GH has an important role in optimisation of care in people with PWS and the approvement of GH treatment for adults with PWS in a few countries is an important milestone.