The PSAI score of patients with 5α-RD2 deficiency, PAIS, and NR5A1 gene mutation (raised as male) was higher than those of patients with CAIS and CYP17A1 gene mutation group (raised as female) (all p < 0.05, Table 3 and Fig. 2). Here, CYP17A1 is linked to complete androgen insensitivity syndrome.