人类类固醇5α-还原酶缺乏症：一种遗传性男性假两性畸形形式。
Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism.
作者信息
Imperato-McGinley J, Guerrero L, Gautier T, Peterson R E
出版信息
Science. 1974 Dec 27;186(4170):1213-5. doi: 10.1126/science.186.4170.1213.
PMID:4432067
Abstract
In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5alpha-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.
摘要
在出生时外生殖器模糊但在青春期有明显男性化的男性假两性畸形患者中，生化评估显示，由于类固醇5α-还原酶活性降低，血浆双氢睾酮显著减少。在子宫内，双氢睾酮的减少导致外生殖器男性化不完全。遗传方式为常染色体隐性遗传。
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