Hormonal investigations revealed oestradiol (E2) at 31.94 pmol/L, progesterone (P4) at 1.65 nmol/L, and testosterone (T) at 0.7628 nmol/L, near the low level of the reference interval, while gonadotropin levels were markedly elevated: follicle-stimulating hormone (FSH) at 153.2 IU/L and luteinizing hormone (LH) at 41.8 IU/L, consistent with primary (hypergonadotropic) hypogonadism. The gene discussed is PLOD1; the disease is Hypergonadotropic hypogonadism.