Searchable abstracts of presentations at key conferences in endocrinology

ea0024p59 | (1) | BSPED2010

An unusual spectrum of phenotype in autoimmune polyendocrinopathy syndrome type 1: a case series of 5 patients within a single centre

Dias R P , Hakeem V , Peters C , Baker J , Hindmarsh P C , Dattani M T

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...