Korean J Med.
2002 Oct;63(4):426-430.
A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus
- Affiliations
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- 1Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea. cchung@wonju.yonsei.ac.kr
- 2Department of The Genetic Laboratory of Medical Research Center, Yonsei University Wonju College of Medicine, Wonju, Korea.
- 3Department of Urology, Yonsei University Wonju College of Medicine, Wonju, Korea.
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.
