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Article

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.

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

Sagsak Elif, Aycan Zehra, Savas-Erdeve Senay, Keskin Meliksah, Cetinkaya Semra, Karaer Kadri

Abstract excerpt

17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. The diagnosis can be missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending...

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Identifiers

PMID: 25894637
DOI: 10.1515/jpem-2014-0354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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