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.

Keywords: ACTH; CES; Cat eye syndrome; FISH; FT4; GH; Growth hormone deficiency; HESX homeobox 1; HESX1; IGF-1; IGF-BP3; LHX4; LIM homeobox 4; MLPA; MRI; Posterior pituitary ectopia; SD; Short stature; TSH; adrenocorticotropic hormone; cat eye syndrome; fluorescent in situ hybridization; free total thyroxine; growth hormone; insulin growth factor 1; insulin growth factor binding protein 3; inv dup(22)(q11); magnetic resonance imaging; multiplex ligation-dependent probe amplification; sample deviation; thyroid-stimulating hormone or thyrotropin.