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Article

Clinical management and genetic variation analysis of patients with 17β-hydroxysteroid dehydrogenase deficiency.

The Journal of international medical research - 1 Jul 2026

Tao Li, Huang Enfu, Wang Chao, Wang Tianyi, Wang Xueqian, Xie Rongrong, Wu Haiying, Yan Xiangming, Zhou Yun, Zhang Ting

Abstract excerpt

ContextDeficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is a rare autosomal recessive disorder of sex development affecting individuals with a 46, XY karyotype. It is caused by pathogenic variants in the HSD17B3 gene that impair the conversion of Δ4-androstenedione to testosterone.ObjectiveTo evaluate the clinical presentation and management of a female patient who exhibited masculinization during...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42390145
DOI: 10.1177/03000605261463063
PMCID: PMC13329090

Genes

HSD17B3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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