In another cohort of 156 Brazilian patients with CPHD, three missense FGFR1 variants were found in four unrelated patients presenting with anterior pituitary hypoplasia, ectopic posterior pituitary, pituitary hormone deficiencies varying from GHD to hypogonadotropic hypogonadism or panhypopituitarism. Here, FGFR1 is linked to panhypopituitarism.