OTX2 and isolated congenital growth hormone deficiency: 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).