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Article

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2015

Khattab Ahmed, Yuen Tony, Yau Mabel, Domenice Sorahia, Frade Costa Elaine Maria, Diya Kazmi, Muhuri Dwaipayan, Pina Christian Enrique, Nishi Mirian Yumie, Yang Amy C, de Mendonça Berenice Biharinho, New Maria I

Abstract excerpt

Steroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal recessive disorder that usually presents in patients with a 46,XY karyotype with ambiguous genitalia at birth. The 17β-HSD3 enzyme, which is encoded by the HSD17B3 gene, converts gonadal delta-4 androstenedione...

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Share to 17-Hydroxysteroid Dehydrogenases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, High Pressure Liquid

Share to Disorder of Sex Development, 46,XY

Share to Gynecomastia

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Share to Sequence Homology, Amino Acid

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Source

Identifiers

PMID: 25536660
DOI: 10.1515/jpem-2014-0295

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25536660-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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