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Article

A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.

Endocrine research - 1 Nov 2000

Simard J, Ricketts M L, Moisan A M, Tardy V, Peter M, Van Vliet G, Morel Y

Abstract excerpt

Classical 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase (3beta-HSD) deficiency is a rare form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and gonads resulting from mutations in the HSD3B2 gene, causing varying degrees of salt-loss in both sexes and incomplete masculinization of the external genitalia in genetic males. To date a total of 34 mutations (including...

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Identifiers

PMID: 11196452
DOI: 10.3109/07435800009048597

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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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A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.PMID 11196452Read ↗

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