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Background:  Steroid-5α-reductase-2 (SRD5A2) and 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) enzyme deficiencies are frequent causes of 46, XY disorder of sex development (46, XY DSD), where an infant with 46, XY has a female phenotype. We assessed the hydroxy-steroid-17β-dehydrogenase-3 (HSD17B3)and SRD5A2 genes in twenty Iranian phenotypic females with 46,XY DSD.  Materials and methods:  All exons in  HSD17B3  and  SRD5A2  genes were subjected to PCR amplification followed by sequencing.  Results:  Of 20 identified 46, XY DSD patients, one had a homozygous missense 17β-HSD3 mutation Ser65Leu (c.194C &gt; T). We found 1 SRD5A2 novel homozygous missense mutation of Tyr242Asp (c.891T &gt; G) in exon 5, which in-silico analyses revealed that this mutation may have deleterious impact on ligand binding site of SRD5A2 protein. Three other individuals harbored 17β-HSD3 deficiencies without identified mutations.  Conclusions:  SRD5A2 and 17β-HSD3 mutations are found in 10% of 46, XY DSD Iranian patients.

Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study