Cat eye syndrome: A mild phenotype with isolated growth hormone deficiency

Cat eye syndrome (OMIM 115470) is a genetic disorder results from abnormality of Chromosome 22. It is characterized by constellation of malformations. Growth is usually normal. We report on a 16 year old Saudi male with Cat eye syndrome (CES) who displayed mild clinical features. The cytogenetic studies confirmed the karyotype as 47XY+del 22q11, which is consistent with the diagnosis of cat eye syndrome. Unlike the majority of reported cases with CES, our patient had severe growth failure. Isolated growth hormone deficiency was confirmed as the patient failed exercise stimulation test in addition to two growth hormone dynamic tests, namely insulin induced hypoglycemia and glucagon tests.