Pseudohermaphroditism, Male, Due to 5α-Reductase-2 Deficiency

作者: Yuan-Shan Zhu , Julianne Imperato-McGinley

DOI: 10.1016/B0-12-475570-4/01130-6

关键词:

摘要: 5α-Reductase isozymes convert testosterone to dihydrotestosterone (DHT). There are two 5α-reductase isozymes, type 1 and 2, in humans. Mutations the 5α-reductase-2 gene cause male pseudohermaphroditism. The affected 46,XY individuals have high normal elevated plasma levels decreased DHT levels, resulting testosterone/DHT ratios. They ambiguous external genitalia at birth often raised as girls. Wolffian differentiation, however, occurs normally epididymides, vasa deferentia, seminal vesicles. Virilization puberty, frequently accompanied by a gender role change from female male. prostate adulthood is small rudimentary; facial hair body absent or decreased. Spermatogenesis can be if testes descended. Prostate cancer balding not been reported. analyses of 5α-reductase-2-deficient subjects highlight significance sexual physiology, pathophysiology.

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