In the above-collected studies, the molecular diagnostic rate for patients with 46, XY DSD ranged from a low of 24.3% to a high of 64.3%, and the most common mutated genes were AR, NR5A1, and SRD5A2. We found that patients with androgen synthesis disorders accounted for the greatest percentage of all patients. Here, NR5A1 is linked to disorder of sexual differentiation.