- Author:
Gil Ho LEE
1
Author Information
- Publication Type:Case Report
- Keywords: Prader-Willi syndrome; Hypogonadism; Genetic testing
- MeSH: Chromosomes, Human, Pair 15; Cryptorchidism; Genetic Testing; Hypogonadism; Intellectual Disability; Male; Obesity; Orchiopexy; Penis; Prader-Willi Syndrome
- From:Korean Journal of Andrology 2011;29(1):85-87
- CountryRepublic of Korea
- Language:Korean
- Abstract: Prader-Willi syndrome (PWS) is a rare genetic disease caused by a deletion or disruption of genes in chromosome 15. Commonly associated characteristics of this disorder include obesity, mental retardation, short stature, and hypogonadotropic hypogonadism. A 3-year-old-boy who initially presented hypoplastic scotum, small penis and bilateral cryptorchism was confirmed the diagnosis of PWS using of with genetic tests. Finally, he was taken bilateral orchiopexy.