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Article

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

The Journal of steroid biochemistry and molecular biology - 1 Mar 2023

Ben Rhouma Bochra, Kley Manuel, Kallabi Fakhri, Kacem Faten Hadj, Kammoun Thouraya, Safi Wajdi, Keskes Leila, Mnif Mouna, Odermatt Alex, Belguith Neila

Abstract excerpt

17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts Δ4-androstene-3,17-dione (androstenedione) to testosterone. It is expressed almost exclusively in the testes and is essential for appropriate male sexual development. More than 70 mutations in the HSD17B3 gene that cause 17β-HSD3 deficiency and result in 46,XY Disorders of Sex Development (46,XY DSD) have been reported. This study describes three novel...

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Share to 17-Hydroxysteroid Dehydrogenases
Share to Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36563763
DOI: 10.1016/j.jsbmb.2022.106235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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