A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Abstract

Abstract Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.

Keywords

• disorders of sex development
• pseudohermaphroditism
• SRD5A2
• variant