Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
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.
Department of Paediatrics, Centro Hospitalar do Médio Ave, Portugal. Electronic address: crferrao.melo@gmail.com.
Cláudia
C
Melo
Susana
S
Gama-de-Sousa
Filipa
F
Almeida
Paula
P
Rendeiro
Purificação
P
Tavares
Helena
H
Cardoso
Sónia
S
Carvalho
D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D003560:Cysts / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D005820:Genetic Testing; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008046:Lip / Q000002:abnormalities; D010641:Phenotype; D010902:Pituitary Gland / Q000473:pathology; D025962:Septo-Optic Dysplasia / Q000235:genetics*
D019382:Human Growth Hormone
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