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

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2013

Autores

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

Revista

Título: Gene

Vol. 529

Páginas: 186-189

ISSN: 0378-1119

Editora: Elsevier

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 6 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4