Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

Decreased response to growth hormone stimuation test

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.

Total: 3

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PMID (PMCID)
26518262	MALE	Infant, Newborn
	Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
	Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G. Ann Endocrinol (Paris). 2015;76(5):629-34.
	Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition.
23928108	FEMALE	Infant
	Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
	Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Gene. 2013;529(1):186-9.
	A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.
23928108	FEMALE	Infant
	Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
	Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Gene. 2013;529(1):186-9.
	We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia.