Searchable abstracts of presentations at key conferences in endocrinology

ea0020p526 | Paediatric Endocrinology | ECE2009

Genetic characterization of children with isolated growth hormone deficiency in Turkish population

Arman Ahmet , Coker Ajda , Cetinkaya Ergun , Dundar Bumin , Siklar Zeynep , Sarioz Ozlem , Buyukgebiz Atilla

Background: Isolated growth hormone deficiency (IGHD) is a condition associated with the growth failure of children due to deficient growth hormone (GH) production and action. IGHD occurs in 1/4000 to 1/10 000 births and the most of cases are sporadic and idiopathic. Between 5 and 30% show familial pattern, suggesting a genetic etiology of disease. Mutations on GH-1 gene lead to growth failure and cause IGHD disease.Objective: Purpose of our research was...