Further investigation of the pituitary hormones showed hypergonadotropic hypogonadism with LH 25.7 IU/L (Normal range 1–9 IU/L), FSH 23.9 IU/L (Normal range 1–12 IU/L) and low testosterone 6.5 nmol/L (Normal range 11–36 nmol/L), but otherwise normal pituitary function. The gene discussed is PLOD1; the disease is Hypergonadotropic hypogonadism.