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

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.

• Authors: Cláudia Melo, Susana Gama-de-Sousa, Filipa Almeida, Paula Rendeiro, Purificação Tavares, Helena Cardoso, Sónia Carvalho
• Journal: Gene (Gene) Vol. 529 Issue 1 Pg. 186-9 (Oct 15 2013) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 23928108 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2013 Elsevier B.V. All rights reserved.

Chemical References

• Human Growth Hormone

Topics

• Abnormalities, Multiple (genetics)
• Aneuploidy
• Chromosome Disorders (diagnosis, genetics)
• Chromosomes, Human, Pair 22 (genetics)
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Coloboma (genetics)
• Cysts (genetics)
• Eye Abnormalities
• Female
• Genetic Testing
• Human Growth Hormone (deficiency, therapeutic use)
• Humans
• Infant
• Lip (abnormalities)
• Phenotype
• Pituitary Gland (pathology)
• Septo-Optic Dysplasia (genetics)