文摘
We describe novel mutations in the HSD17B3 gene causing 46, XY DSD in the Tunisian population. We show that carriers of the p.C206X mutation harbor the same haplotype and provide evidence that the mutation was inherited from a common ancestor. We found a carrier frequency of approximately 1 in 40 in randomly selected individuals from the region of Sfax, Tunisia. This mutation should be considered in the diagnosis and genetic counseling of affected 17β-HSD3 deficiency pedigrees in Tunisia.