A total of 43 rare or novel variants were found in 20 genes associated with congenital hypogonadotropic hypogonadism CHH (ANOS1, CCDC141, CHD7, DUSP6, FEZF1, FGFR1, FLRT3, FSHB, GNRHR, HS6ST1,LHX3, LHX4, PLXNA3, PROK2, PROKR2, PROP1, RNF216, SEMA3A, SEMA3F and SPRY4). Here, DUSP6 is linked to cartilage-hair hypoplasia.