Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep67 | Adrenal cortex | ECE2015

Glucocorticoid receptor polymorphisms not affect the therapy efficiency in adult, Hungarian patients with 21-hydroxylase deficiency

Klara Koncz , Abigel Farkas , Marton Doleaschall , Nikolett Szucs , Miklos Toth , Peter Igaz , Karoly Racz , Attila Patocs

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by 21-hydroxylase deficiency in 95% of all cases. Two main clinical subtypes: the classical (manifested after birth, or in early newborn period) and the late onset (LO) phenotype (manifested commonly during puberty). The lifelong glucocorticoid (GC) supplementation is essential in therapy of these patients. Response to GC therapy is individual and partly genetically determined....