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Article

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

The Journal of clinical endocrinology and metabolism - 1 Feb 1998

Can S, Zhu Y S, Cai L Q, Ling Q, Katz M D, Akgun S, Shackleton C H, Imperato-McGinley J

Abstract excerpt

Male pseudohermaphroditism (MPH) is characterized by incomplete differentiation of male genitalia in the presence of testicular tissue. Enzymatic defects involving androgen synthesis or action are causes of MPH. We studied the molecular genetics of a large isolated inbred Turkish kindred with MPH due to either 5 alpha-reductase-2 (SRD5A2) or 17 beta-hydroxysteroid dehydrogenase-3 (17 beta HSD3) gene defects....

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PMID: 9467575
DOI: 10.1210/jcem.83.2.4535

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