Her serum FSH, LH, and estradiol were measured to investigate her primary amenorrhea; the values (FSH, 3.0 mIU/ml; LH, 2.1 mIU/ml; and estradiol, 39.4 pg/ml) all decreased, thus indicating a pituitary dysfunction which thus had caused primary amenorrhea (Table 1). Here, PLOD1 is linked to Primary amenorrhea.