Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature.
- Author:
Bom Yi LEE
1
;
Shin Young LEE
;
Yeon Woo LEE
;
Shin Young KIM
;
Jin Woo KIM
;
Hyun Mee RYU
;
Joong Shik LEE
;
So Yeon PARK
;
Ju Tae SEO
Author Information
- Publication Type:Original Article
- Keywords: Azoospermia; Infertility; SRY genes; 46,XX testicular disorder of sex development
- MeSH: Azoospermia; Blood Cells; Cytogenetic Analysis; Disorders of Sex Development; Gene Dosage; Genes, sry; Humans; Infertility; Male; Polymerase Chain Reaction; Retrospective Studies; Sexual Development*; X Chromosome
- From:Journal of Genetic Medicine 2016;13(2):78-88
- CountryRepublic of Korea
- Language:English
- 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.
