Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature

•CES presents a variable phenotype and short stature is a common feature.•The association between structural pituitary anomaly and CES has been reported.•Deletions in the 22q11.2 may influence the development of midline structures.•We report a case of CES and short stature with GH deficiency and pituitary anomaly.•On 22q11 syndromes GH levels and pituitary anomalies must be carefully assessed.

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.