Prader-Willi Syndrome with Hypogonadism

Gil Ho Lee

doi:10.5534/kja.2011.29.1.85

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Lee: Prader-Willi Syndrome with Hypogonadism

Original Article

Korean J Androl 2011;29(1):85-87.

Published online: 22 April 2011

DOI: https://doi.org/10.5534/kja.2011.29.1.85

Prader-Willi Syndrome with Hypogonadism

Gil Ho Lee

Department of Urology, Dankook University College of Medicine, Cheonan, Korea

Received 16 October 20118 December 2011 Accepted 9 December 2011

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Prader-Willi syndrome, Hypogonadism, Genetic testing

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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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