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Article

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.

Clinical endocrinology - 1 Jun 2014

Takasawa Kei, Ono Makoto, Hijikata Atsushi, Matsubara Yohei, Katsumata Noriyuki, Takagi Masatoshi, Morio Tomohiro, Ohara Osamu, Kashimada Kenichi, Mizutani Shuki

Abstract excerpt

CONTEXT: Classical 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency (3β-HSDD) is caused by loss-of-function mutations in the HSD3B2 gene encoding type II 3β-HSD, which has a key role in steroid biosynthesis, converting Δ5-steroids to Δ4-steroids in adrenal glands and gonads. PATIENT: A patient...

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Share to 17-alpha-Hydroxyprogesterone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24372086
DOI: 10.1111/cen.12394

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24372086-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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