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Article

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

The journal of sexual medicine - 1 Oct 2013

Ben Rhouma Bochra, Belguith Neila, Mnif Mouna Feki, Kamoun Thouraya, Charfi Nadia, Kamoun Mahdi, Abdelhedi Fatma, Hachicha Mongia, Kamoun Hassen, Abid Mohamed, Fakhfakh Faiza

Abstract excerpt

INTRODUCTION: 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) isoenzyme is present almost exclusively in the testes and converts delta 4 androstenedione to testosterone. Mutations in the HSD17B3 gene cause HSD17B3 deficiency and result in 46,XY Disorders of Sex Development (46,XY DSD). AIM: This study aimed to present the clinical and biochemical features of a Tunisian patient who presented a sexual ambiguity...

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Identifiers

PMID: 22594312
DOI: 10.1111/j.1743-6109.2012.02763.x

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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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