Institution: | 1. Department of Paediatrics, Centro Hospitalar do Médio Ave, Portugal;2. CGC Genetics, Porto, Portugal;3. CGC Genetics, Madrid, Spain;4. CGC Genetics, Newark, USA;5. Department of Endocrinology, Diabetes and Metabolism, Hospital de Santo António, CHP, Portugal |
Abstract: | 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. |