A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male.

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.

SUBMITTER: Dalili S 

PROVIDER: S-EPMC7562857 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature