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Article

Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.

The Journal of clinical endocrinology and metabolism - 1 Mar 2010

Kok Renée C, Timmerman Marianna A, Wolffenbuttel Katja P, Drop Stenvert L S, de Jong Frank H

Abstract excerpt

CONTEXT: Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary for the production of glucocorticoids (17-hydroxylase activity) and sex steroids (17,20-lyase activity). Isolated 17,20-lyase deficiency is a rare condition characterized by a deficient production of androgens resulting in 46,XY disorders of sex development (DSD) while the production of glucocorticoids is intact. Several missense mutations...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 20080843
DOI: 10.1210/jc.2008-1745

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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