The results may provide new insights into the molecular mechanism by which the variant of FGFR1 impairs gonadal steroidogenesis, in addition to authentic hypogonadotropic hypogonadism, due to the impairment of GnRH neurons, leading to primary, as well as secondary, hypogonadism. The gene discussed is FGFR1; the disease is hypogonadotropic hypogonadism.