Dictionary of Human Evolution and Biology

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Pseudohermaphroditism, Male

(‘with gynecomastia and hirsutism’) group of several similar conditions characterized by an XY chromosomal genotype with an SRY gene present on the Y, and (sometimes) internal male reproductive organs (male gonadal sex), but with a female phenotype. Germline mutations that interfere with the production of testosterone and/or DHT are the cause of the conditions. In some cases, masculinization can take place at puberty. The most common agents of male pseudohermaphroditism -- gynecomastia at puberty coupled with hirsutism -- can be caused by 17hydroxysteroid dehydrogenase deficiency (HSD17B3 deficiency), 17-ketosteroid reductase deficiency (17-KSR deficiency), or 5reductase-2 deficiency (PPSH, the guevedoces mutation), all phenotypically indistinguishable without a serum assay.

See androgen insensitivity syndrome.

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