A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus
Authors
Mi Jin Kim ; Myung Suk Shim ; Young Goo Shin ; Choon Hee Chung ; Hyun Sook Jung ; Sang Ha Kim ; Sang Jin Yoon ; Ki Woong Jang ; In Young Jang ; Byong Jun Lee ; Young Ho Yang ; Sung Jin Kim
Citation
Korean Journal of Medicine (대한내과학회지), Vol.63(4) : 426-430, 2002
Prader-Willi Syndrome ; Fluoresence in situ hybridization
Abstract
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