Hormonal analyses at the age of 22 and 23 years revealed low oestradiol: 11 and <10 pmol/L (normal 100–1000 pmol/L), testosterone: 1 nmol/L (normal 0.5–3 nmol/L), high FSH: 215 and 219 IU/L (normal 1–8 IU/L), and high LH: 78 and 75 IU/L (normal 2–8 IU/L) levels, indicating hypergonadotropic hypogonadism. This evidence concerns the gene PLOD1 and Hypergonadotropic hypogonadism.