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Article

The syndrome of 17,20 lyase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jan 2012

Miller Walter L

Abstract excerpt

CONTEXT: Disorders of steroidogenesis have been instrumental in delineating human steroidogenic pathways. Each genetic disorder seemed to correspond to a different steroidogenic activity, helping to identify several enzymes. Beginning in 1972, several patients have been reported as having "17,20 lyase deficiency," but there have been inconsistent genetic findings. OBJECTIVE: This manuscript reviews the...

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Share to Adrenal Hyperplasia, Congenital
Share to Cytochromes b5
Share to Hydroxysteroid Dehydrogenases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oxidoreductases

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Source

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Identifiers

PMID: 22072737
DOI: 10.1210/jc.2011-2161
PMCID: PMC3251937

Provenance

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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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 ↗

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