XX testicular disorder of sex differentiation: case report

Abstract

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.

Keywords

• Gonadal dysgenesis, 46, XX
• Gene, SRY
• Sex differentiation
• infertility, male
• Azoospermia
• Case reports