In humans, mutations in OTX2 have been described in patients with eye defects and variable congenital hypopituitarism (CH), ranging from isolated growth hormone deficiency (IGHD) (12) to combined pituitary hormone deficiency (CPHD) with/without an ectopic posterior pituitary (EPP) (6, 13, 14, 15, 16, 17). The gene discussed is OTX2; the disease is hypopituitarism.