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Article

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.

Human molecular genetics - 1 Oct 1994

Carey A H, Waterworth D, Patel K, White D, Little J, Novelli P, Franks S, Williamson R

Abstract excerpt

Fourteen Caucasian families with 81 affected individuals have been assessed in which polycystic ovaries/male pattern baldness (PCO/MPB) segregates as an autosomal dominant phenotype (1). The gene CYP17, coding for P450c17 alpha (17 alpha-hydroxylase; 17/20 lyase) on chromosome 10q24.3 is the rate-limiting step in androgen biosynthesis. We have identified a new single base change in the 5' promoter region of CYP17...

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Identifiers

PMID: 7849715
DOI: 10.1093/hmg/3.10.1873

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.PMID 7849715Read ↗

Hypersecretion of androgens by polycystic ovaries: the role of genetic factors in the regulation of cytochrome P450c17 alpha.Semantic proximity Read ↗

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.Semantic proximity Read ↗

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.Semantic proximity Read ↗

Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control FamiliesSemantic proximity Read ↗

Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control FamiliesSemantic proximity Read ↗

A Novel Point Mutation in P450c17 (CYP17) Causing Combined 17α-Hydroxylase/17,20-Lyase DeficiencySemantic proximity Read ↗

Prostate cancer associated with CYP17 genotype.Semantic proximity Read ↗

Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.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 ↗

Association between CYP17 gene polymorphism and risk of breast cancer in young women.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 ↗

A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.Semantic proximity Read ↗

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