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Article

46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report

Journal of clinical research in pediatric endocrinology - 7 Jun 2022

Çiftci Nurdan, Kayaş Leman, Çamtosun Emine, Akıncı Ayşehan

Abstract excerpt

The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone (T) from Δ4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46,XY sex developmental disorder (DSD). Patients with 46,XY karyotype can exhibit a wide phenotypic spectrum,...

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Identifiers

PMID: 33389920
DOI: 10.4274/jcrpe.galenos.2020.2020.0249
PMCID: PMC9176087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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