A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male.
Setilla DaliliBahareh RabbaniAfagh Hassanzadeh RadShaahin KoohmanaeeNejat MahdiehPublished in: Clinical case reports (2020)
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.