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. 1974 Dec 27;186(4170):1213-5.
doi: 10.1126/science.186.4170.1213.

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

J Imperato-McGinley, L Guerrero, T Gautier, R E Peterson

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

J Imperato-McGinley et al. Science. .

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.

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