A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus.
- Author:
Hyun Sook JUNG
1
;
Myung Sook SHIM
;
Mi Jin KIM
;
Sang Ha KIM
;
Sang Jin YOON
;
Ki Woong JANG
;
In Young JANG
;
Byong Jun LEE
;
Young Ho YANG
;
Sung Jin KIM
;
Young Goo SHIN
;
Choon Hee CHUNG
Author Information
1. Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea. cchung@wonju.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Prader-Willi Syndrome;
Fluoresence in situ hybridization
- MeSH:
Adolescent;
Chromosomes, Human, Pair 15;
Cryptorchidism*;
DNA Probes;
Fluorescence;
Foot;
Glucose Intolerance;
Hand;
Humans;
Hypogonadism;
In Situ Hybridization;
Male;
Muscle Hypotonia;
Obesity;
Prader-Willi Syndrome*;
Young Adult
- From:Korean Journal of Medicine
2002;63(4):426-430
- CountryRepublic of Korea
- Language:Korean
-
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.
