Biochemical analysis revealed raised gonadotrophins (luteinizing hormone [LH]: 24 IU/L [normal range (N): 5–25], follicle-stimulating hormone [FSH]: 109 IU/L [N: 0.3–10], and decreased estradiol <37 pg/mL [N: 37–400]), consistent with hypergonadotropic hypogonadism. Here, PLOD1 is linked to Hypergonadotropic hypogonadism.