The laboratory investigations detected her sex hormone levels (FSH, LH, estradiol) in the postmenopausal range, which is in line with primary amenorrhea: FSH 101.04 IU/L (norm: postmenopausal: 25.8–134.8 IU/L) LH: 49.22 IU/L (norm: postmenopausa:7.7–58.5 IU/L), estradiol 5 pg/ml (norm: postmenopausal: < 10–39.2 pg/mL), DHEA-S: 5.78 umol/L (norm: 1.65–11 umol/L). The gene discussed is BRD2; the disease is Primary amenorrhea.