ISSN: 1308-5727 | E-ISSN: 1308-5735
Forms
Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
J Clin Res Pediatr Endocrinol. 2014; 6(1): 51-54 | DOI: 10.4274/Jcrpe.1183
Features of Two Cases with 18q Deletion Syndrome
Elif Özsu1, Gül Yeşiltepe Mutlu1, Ayşegül Büte Yüksel1, Şükrü Hatun1Kocaeli University Medical Faculty, Department Of Pediatric Endocrinology And Diabetes, Kocaeli, TurkeyThe 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.
Keywords: 18q deletion,MC4R,AutoimmunityElif Özsu, Gül Yeşiltepe Mutlu, Ayşegül Büte Yüksel, Şükrü Hatun. Features of Two Cases with 18q Deletion Syndrome. J Clin Res Pediatr Endocrinol. 2014; 6(1): 51-54
Manuscript Language: English
Manuscript Language: English
Copyright © 2024 | Journal of Clinical Research in Pediatric Endocrinology
