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Article

Ambiguous genitalia due to partial activity of cytochromes P450c17 and P450c21.

The Journal of steroid biochemistry and molecular biology - 1 Jan 1992

Augarten A, Pariente C, Gazit E, Chayen R, Goldfarb H, Sack J

Abstract excerpt

We describe a patient with male pseudohermaphrodism who has normal basal serum concentrations of cortisol and high basal levels of progesterone and 17 hydroxyprogesterone. Serum concentrations of androstendione, dehydroepiandrosterone sulfate and testosterone were low. On adequate human chorionic gonadotropin (HCG) stimulation, no rise in serum androstendione, dehydroepiandrosterone sulfate or testosterone...

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Source

Identifiers

PMID: 1531179
DOI: 10.1016/0960-0760(92)90222-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Ambiguous genitalia due to partial activity of cytochromes P450c17 and P450c21.PMID 1531179Read ↗

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P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.Semantic proximity Read ↗

Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase DeficiencySemantic proximity Read ↗

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.Semantic proximity Read ↗

Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia.Semantic proximity Read ↗

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

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