In 2012, we studied heterozygous NR5A1 gene variants detected in 10 DSD patients (nine 46,XY DSD and one 46,XX with primary ovarian insufficiency) in whom other DSD-causing genes such as AR, SRD5A2, and CYP17A1 were ruled out by Sanger sequencing [39]. Here, SRD5A2 is linked to disorder of sexual differentiation.