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

• Published in: Gene Vol. 529; no. 1; pp. 186 - 189
• Main Authors: Melo, Cláudia, Gama-de-Sousa, Susana, Almeida, Filipa, Rendeiro, Paula, Tavares, Purificação, Cardoso, Helena, Carvalho, Sónia
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.10.2013
• Subjects: Abnormalities, Multiple - genetics; Aneuploidy; Cat eye syndrome; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosomes, Human, Pair 22 - genetics; Cleft Lip - genetics; Cleft Palate - genetics; Coloboma - genetics; Cysts - genetics; Eye Abnormalities; Female; Genetic Testing; Growth hormone deficiency; Human Growth Hormone - deficiency; Human Growth Hormone - therapeutic use; Humans; Infant; inv dup(q11); Lip - abnormalities; Phenotype; Pituitary Gland - pathology; Posterior pituitary ectopia; Septo-Optic Dysplasia - genetics; Short stature; GH; Cat eye syndrome; MRI; FT4; ACTH; TSH; Short stature; IGF-1; Posterior pituitary ectopia; inv dup(q11); CES; SD; MLPA; Growth hormone deficiency; FISH; HESX1; LHX4; IGF-BP3; fluorescent in situ hybridization; magnetic resonance imaging; adrenocorticotropic hormone; free total thyroxine; growth hormone; insulin growth factor binding protein 3; LIM homeobox 4; multiplex ligation-dependent probe amplification; HESX homeobox 1; thyroid-stimulating hormone or thyrotropin; insulin growth factor 1; sample deviation
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.07.031

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. •CES presents a variable phenotype and short stature is a common feature.•The association between structural pituitary anomaly and CES has been reported.•Deletions in the 22q11.2 may influence the development of midline structures.•We report a case of CES and short stature with GH deficiency and pituitary anomaly.•On 22q11 syndromes GH levels and pituitary anomalies must be carefully assessed.