Features of Prader Willi Syndrome

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Prader-Willi syndrome is a congenital disease with an incidence of about 1 in 8,000 to 20,000 live births. Prader-Willi syndrome is the most common genetic cause of marked obesity in humans. The excess weight causes type II diabetes as a major complication. This makes PWS the most frequent genetic cause for type II diabetes (Butler et al. 2006). Early PWS is characterized by a failure to thrive, feeding difficulties and hypogonadism. Later, the patients are characterized by short stature and develop mild to moderate mental retardation, behavioral problems and hyper-phagia that leads to severe obesity. Children with PWS show low levels of growth hormone, Insulin-like growth factor 1 (IGF-I), and insulin as well as elevated levels of ghrelin (Eiholzer et al. 1998a, b; Cummings et al. 2002) and often exhibit central adrenal insufficiency (de Lind van Wijngaarden et al. 2008). Subsequently, growth hormone substitution was approved for treatment of children with PWS (Carrel et al. 2006). The growth hormone substitution represents to date the only pharmaceutical therapy and is successful in weight management.

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