Furthermore, we reported four other novel disease-associated mutations in our cohort of 46,XY DSD by whole-exome sequencing: c.1314_1315del, c.2245G > A in the AR gene and c.419_421delinsATTC, c.547-1G > C in the SRD5A2 gene. Here, SRD5A2 is linked to disorder of sexual differentiation.