A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus / 대한내과학회지

Prader-Willi syndrome (PWS) is a complex, multisystem disorder comprising congenital hypotonia, feeding difficulties, hypogonadism and hypogenitalism, short stature, small hands and feet, mental and psychomotor retardation, distinctive facial appearance, onset of obesity in early childhood and a tendency to develop glucose intolerance in adolescence. Yet the syndrome remains difficult to diagnose due to the subtle nature of many of the manifestations. We report an 19-year old man with PWS, confirmed by fluorescence in situ hybridization (FISH) with DNA probes specific for the PWS region on chromosome 15.