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Licensed Unlicensed Requires Authentication Published by De Gruyter December 8, 2011

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

Tossaporn Seeherunvong, Supamit Ukarapong, Kenneth McElreavey, Gary D. Berkovitz and Erasmo M. Perera


Background: Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals.

Methods: We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications.

Results: Duplication of the SOX9 region in 17q was not detected in any subject.

Conclusion: Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.

Corresponding author: Supamit Ukarapong, Division of Pediatric Endocrinology, Miller School of Medicine, University of Miami, Suite 3044A, 1601 NW, 12th Avenue, Miami, FL 33136, USA Phone: +1-305-243-5707, Fax: +1-305-243-6309

Received: 2011-7-31
Accepted: 2011-10-24
Published Online: 2011-12-08
Published in Print: 2012-02-01

©2012 by Walter de Gruyter Berlin Boston

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