Korean J Androl.  2011 Apr;29(1):85-87. 10.5534/kja.2011.29.1.85.

Prader-Willi Syndrome with Hypogonadism

• Lee GH

• KMID: 2298630
• DOI: http://doi.org/10.5534/kja.2011.29.1.85

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.

Keyword

Prader-Willi syndrome; Hypogonadism; Genetic testing

MeSH Terms

Chromosomes, Human, Pair 15
Cryptorchidism
Genetic Testing
Hypogonadism
Intellectual Disability
Male
Obesity
Orchiopexy
Penis
Prader-Willi Syndrome

Figure

• 

  Fig. 1. (A) Genital findings of Prader-Willi syndrome (PWS). Bifid scrotum and micropenis are observed. (B) Inguinal sonography reveals the right undescended testicle in the inguinal area and marked thickening of inguinal fat layers. (C) A conventional cytogenetic study shows normal patterns of chromosome 15. (D) PWS specific methylation study demonstrates specific bands for PWS. PT: from patient DNA, PWS: positive control from confirmed PWS patient, CON: negative control from normal control, AS: from confirmed Angelman syndrome patient, M: DNA marker.

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