Tehran University of Medical Sciences

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A Novel Pathogenic Variant of Srd5a2 in an Iranian Psuedohermaphrodite Male Publisher



Dalili S1 ; Rabbani B2, 3 ; Hassanzadeh Rad A4 ; Koohmanaee S1 ; Mahdieh N3, 5
Authors

Source: Clinical Case Reports Published:2020


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. © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd