Pitteloud et al. [24] have described a male patient homozygous for the p.(Gln106Arg) mutation in GNRHR with a partial phenotype who underwent reversal of hypogonadotropic hypogonadism, and a partial CHH phenotype was described in a Brazilian male patient homozygous for this mutation [9]. The gene discussed is GNRHR; the disease is cartilage-hair hypoplasia.