Of note, kisspeptin stimulation recently proved to be a promising diagnostic tool in differentiating CHH and CDGP in a small cohort of adolescents, overcoming the limited discriminatory power of other tests including GnRH-stimulated LH, inhibin B, and genetic tests47, albeit larger-scale study would be necessary to validate the results. Here, GNRH1 is linked to cartilage-hair hypoplasia.