Current knowledge suggests that the genetic background of congenital hypogonadotropic hypogonadism (CHH) and self‐limited disordered puberty is a spectrum that spans from rare pathogenic variants of a small number of genes known to underlie only delayed puberty (e.g., EAP1), to a group that is exclusively causal in CHH (e.g., ANOS1), with a large area of overlap between these ends of the spectrum where variants in genes (e.g., GNRHR) are involved in the etiology of both delayed and absent puberty.[58]. Here, GNRHR is linked to cartilage-hair hypoplasia.