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Article

Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.

Clinical endocrinology - 1 Jul 2007

Lee Yung Seng, Kirk Jeremy M W, Stanhope Richard G, Johnston Derek I, Harland Sharon, Auchus Richard J, Andersson Stefan, Hughes Ieuan A

Abstract excerpt

OBJECTIVE: 17beta-hydroxysteroid dehydrogenase type 3 isoenzyme (17beta-HSD3) is required to produce testosterone for male sex differentiation. Mutations in the HSD17B3 gene cause 17betaHSD3 deficiency and result in XY sex reversal of varying degree. We report the phenotypes of 14 subjects with 17betaHSD3 deficiency in relation to sex of rearing, androgen production, and HSD17B3 mutations. DESIGN: Cases were...

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Identifiers

PMID: 17466011
DOI: 10.1111/j.1365-2265.2007.02829.x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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