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Article

The genetic and functional basis of isolated 17,20-lyase deficiency.

Nature genetics - 1 Oct 1997

Geller D H, Auchus R J, Mendonça B B, Miller W L

Abstract excerpt

Human male sexual differentiation requires production of fetal testicular testosterone, whose biosynthesis requires steroid 17,20-lyase activity. Patients with putative isolated 17,20-lyase deficiency have been reported. The existence of true isolated 17,20-lyase deficiency, however, has been questioned because 17 alpha-hydroxylase and 17,20-lyase activities are catalyzed by a single enzyme, microsomal cytochrome...

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PMID: 9326943
DOI: 10.1038/ng1097-201

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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The genetic and functional basis of isolated 17,20-lyase deficiency.PMID 9326943Read ↗

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A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.Semantic proximity Read ↗

The molecular basis of isolated 17,20 lyase deficiency.Semantic proximity Read ↗

The regulation of 17,20 lyase activity.Semantic proximity Read ↗

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase DeficiencySemantic proximity Read ↗

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

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Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

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