J Genet Med.  2016 Dec;13(2):78-88. 10.5734/JGM.2016.13.2.78.

Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

Affiliations
  • 1Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. jtscmc@naver.com paranip5@hanmail.net
  • 2Department of Obstetrics and Gynecology, General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
  • 3Department of Urology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea. jtscmc@naver.com paranip5@hanmail.net

Abstract

PURPOSE
To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature.
MATERIALS AND METHODS
SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction.
RESULTS
Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%).
CONCLUSION
We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

Keyword

Azoospermia; Infertility; SRY genes; 46,XX testicular disorder of sex development
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