Bochra Ben Rhouma, Manuel Kley, Fakhri Kallabi, Faten Hadj Kacem, Thouraya Kammoun, Wajdi Safi, Leila Keskes, Mouna Mnif, Alex Odermatt, Neila Belguith
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 Tunisian cases with mutations in HSD17B3. The first patient is homozygous for the previously reported mutation p...
December 20, 2022: Journal of Steroid Biochemistry and Molecular Biology