Figure 3 summarizes the genetic tests, and the respective results, performed on patients with 46,XX disorders of ovarian development, 46,XX androgen excess, 46,XX other, 46,XY disorders of testicular development, and 46,XY disorders in androgen synthesis/action. The positions of all the identified point mutations along the SRY, AMH, SRD5A2, NR5A1, CYP11B1, AR, RSPO1, and CYP21A2 coding sequences are shown in Fig. 4. Here, CYP21A2 is linked to hyperandrogenism.