identified a de novo heterozygous mutation in FOXA2 (c.505T>C, p.S169P) in a child with CHI and congenital hypopituitarism, craniofacial anomalies, choroidal coloboma, cardiovascular and malformations gastrointestinal abnormalities, and developmental delay (120). This evidence concerns the gene FOXA2 and non-acquired combined pituitary hormone deficiency.