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    Science. 1974 Dec 27;186(4170):1213-5.

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

    Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE.

    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.

    PMID:
    4432067
    [PubMed - indexed for MEDLINE]

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