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. This evidence concerns the gene PLOD1 and cartilage-hair hypoplasia.