einstein (São Paulo). 01/Jul/2011;9(3):394-6.
XX testicular disorder of sex differentiation: case report
DOI: 10.1590/S1679-45082011RC1862
ABSTRACT
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypoganadism, gynecomastia, and/or infertility. The authors present the report of an XX male with complete masculinization and infertility.
XX testicular disorder of sex differentiation: case report
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