In a long-term clinical follow-up, three unrelated subjects with digenic defects (proband 9: CHD7 p.N1030H and FGFR1 p.R285W; proband 10: CHD7 p.N1030H and FGFR1 p.R285W; and proband 25: GNRHR p.R139H, GNRHR p.N10_Q11delinsKK, and CHD7 p.K683_T684insAK) displayed a reversal of hypogonadism. Here, GNRHR is linked to hypogonadism.