alexa Abstract | Cat eye syndrome: A mild phenotype with isolated growth hormone deficiency

Current Pediatric Research
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Abstract

Cat eye syndrome (OMIM 115470) is a genetic disorder results from abnormality of Chromosome 22. It is characterized by constellation of malformations. Growth is usually normal. We report on a 16 year old Saudi male with Cat eye syndrome (CES) who displayed mild clinical features. The cytogenetic studies confirmed the karyotype as 47XY+del 22q11, which is consistent with the diagnosis of cat eye syndrome. Unlike the majority of reported cases with CES, our patient had severe growth failure. Isolated growth hormone deficiency was confirmed as the patient failed exercise stimulation test in addition to two growth hormone dynamic tests, namely insulin induced hypoglycemia and glucagon tests.

To read the full article Peer-reviewed Article PDF image

Author(s): Sarar Mohamed

Keywords

Cat eye syndrome, short stature, growth hormone

 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords