Fig. 1

Ovarian stimulation process and oocytes of the affected individuals. A First ovarian stimulation cycle of individual P1. B Second ovarian stimulation cycle of individual P1. C First ovarian stimulation cycle of individual P2. D Ovarian stimulation cycle of control woman (numbered C1 in Table S1, in which her detail information was given) with normal ovarian response. A-D Changes in serum estrogen (the upper graph, orange line) and follicle diameter (the lower graph, each blue triangle represents each follicle, each orange vertical bar represents the standard deviation, and blue line represents the diameter of the largest follicle) during ovarian stimulation. The Y-axis of the upper graph represents follicle diameter, the Y-axis of the lower graph represents serum estrogen levels, and both X-axes represents days of ovarian stimulation. Dashed lines represent estrogen levels corresponding to ≥75% of follicles are 4-6 mm in diameter. Red arrow indicates the day of HCG trigger. Ovarian stimulation medication is shown below the picture and the numbers represent the daily dosage in the corresponding period. rFSH, recombinant human FSH (P1-1: Gonal-F, Merck Serono; P1-2: Puregon, Organon); uFSH, urinary human FSH (Urofollitropin, Livzon); HMG, human menopausal gonadotropin (Menotropins, Livzon); GnRH-A, GnRH antagonist (Cetrotide, Merck Serono); HCG, recombinant human chorionic gonadotropin (Ovitrelle, Merck Serono). E Serum estrogen levels in affected individuals (P1 and P2) and control women (n=6) during ovarian stimulation when ≥75% of follicles are 4-6 mm in diameter. F Pictures of oocytes obtained from control women and individual P1