Article
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
The Journal of steroid biochemistry and molecular biology - 1 Jan 2017
Ben Rhouma Bochra, Kallabi Fakhri, Mahfoudh Nadia, Ben Mahmoud Afif, Engeli Roger T, Kamoun Hassen, Keskes Leila, Odermatt Alex, Belguith Neila
Abstract excerpt
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost exclusively in the testis and converts Δ4-androstene-3,17-dione to testosterone. Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive form of 46, XY Disorders of Sex Development (46, XY DSD). We report novel cases of Tunisian patients with 17β-HSD3 deficiency due to previously reported mutations, i.e....
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