46,XX Male Syndrome

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Primary infertility in a phenotypic male with 46XX chromosomal constitution.

The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the ...

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The 46, XX disorder of sex development (DSD) is a rare form of sex reversal in infertile men, that was first described by la Chapelle et al. in 1964 and occurred 1:20 000 in newborns. Usually, it is caused by unequal crossingover between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X...

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ژورنال

عنوان ژورنال: Turkish Journal of Endocrinology and Metabolism

سال: 2013

ISSN: 1301-2193

DOI: 10.4274/tjem.2064