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Article

Unmasking a rare variant: 17β-HSD3 deficiency in a male infant with disorders of sex development.

BMJ case reports - 15 Dec 2025

Ali Khadija, Abduljalil Razan Ar, Alqanea Fatima, Alsaffar Hussain

Abstract excerpt

17-beta hydroxysteroid dehydrogenase-3 enzyme is an enzyme expressed almost exclusively in the testes; it plays a crucial role in gonadal differentiation by catalysing the conversion of androstenedione (Δ4) to testosterone (T). The enzyme is encoded by the 17-B-hydroxysteroid dehydrogenase-3 (HSD17B3) gene. Mutations in this gene result in undervirilisation of the external male genitalia. We present a case of a...

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Identifiers

PMID: 41397774
DOI: 10.1136/bcr-2025-266828

Genes

HSD17B3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Unmasking a rare variant: 17β-HSD3 deficiency in a male infant with disorders of sex development.PMID 41397774Read ↗

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