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

• Type: Another Publication in an International Scientific Journal
• Date: 2013

Authors

Melo, C (Author) ICBAS; Gama de Sousa, S (Author) Other; Almeida, F (Author) Other; Rendeiro, P (Author) Other; Tavares, P (Author) Other; Cardoso, H (Author) Other; Carvalho, S (Author) Other

Journal

Title: Gene

Vol. 529

Pages: 186-189

ISSN: 0378-1119

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 6 Citations

Other information

Authenticus ID: P-006-6K5

DOI: 10.1016/j.gene.2013.07.031

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4