ESPE Abstracts

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

Background: Primary adrenal insufficiency (PAI) is a rare life-threatening disorder. Data on PAI in children are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).Objective and hypotheses: Evaluate etiology of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21-OHD.Method: Children followed in eight tertiary centers wer...