Reports

Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

Science  27 Dec 1974:
Vol. 186, Issue 4170, pp. 1213-1215
DOI: 10.1126/science.186.4170.1213

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 5α-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.

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