A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

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. AbstractDeficiency 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.

Source: Clinical Case Reports - June 17, 2020 Category: General Medicine Authors: Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh Tags: CASE REPORT Source Type: research