The CHH phenotype of our patient, consisting of micropenis, small testes and low LH, FSH and testosterone, cannot be attributed solely to the GNRH1 p.Arg73Ter heterozygous variant, since hypogonadotropic hypogonadism 12 with or without anosmia (MIM Number 614841) is dominantly inherited. The gene discussed is PLOD1; the disease is hypogonadotropic hypogonadism.