Blood tests revealed estradiol 18 pg/mL (normal range (NR) 20–60), FSH 0.3 mIU/mL (NR 1.4–9.6), LH <0.1 mIU/mL (NR 0.8–26.0), thus indicating a diagnosis of hypogonadotropic hypogonadism. Here, PLOD1 is linked to hypogonadotropic hypogonadism.