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XX testicular disorder of sex differentiation: case report

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Author(s): Bianca Bianco | Denise Maria Christofolini | Frederico Rezende Ghersel | Marcello Machado Gava | Caio Parente Barbosa

Journal: Einstein
ISSN 1679-4508

Volume: 9;
Issue: 3;
Start page: 394;
Date: 2011;
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Keywords: Gonadal dysgenesis | 46 | XX | Gene | SRY | Sex differentiation | infertility | male | Azoospermia | Case reports

ABSTRACT
The 46 XX, testicular sex differentiation disorder, or XX malesyndrome, is a rare condition detected by cytogenetics, in whichtesticular 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 withnormal phenotype at birth and are generally diagnosed after pubertyfor hypoganadism, gynecomastia, and/or infertility. The authorspresent the report of an XX male with complete masculinization andinfertility.
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