FSH levels (18.8 [8.6, 48.7] vs. 5.5 [3.3, 9.3]; P < 0.05) and Serum LH (26.3 [19.2, 37.2] vs. 11.1 [7.1,12.6]; P < 0.01) were significantly higher and EMS was significantly lower (P < 0.05) in postpubertal patients with CAIS than those in patients with PAIS (Fig. 2a, b and Additional file 1: Table S4). The gene discussed is PLOD1; the disease is partial androgen insensitivity syndrome.