Congenital hypogonadotrophic hypogonadism is characterized by the impaired production or action of gonadotropin-releasing hormone (GnRH), which results in dysfunction of the hypothalamic-pituitary-gonadal hormone axis, leading to low testosterone levels and impaired fertility (Boehm et al., 2015; Millar et al., 2021). The gene discussed is GNRH1; the disease is hypogonadotropic hypogonadism.