Endocrine Abstracts

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 several minor features that have been associated in a variable proportion of patients which can present at any stage. The aim of this case series is to highlight unusual clinical phenotypes seen in a paediatric population with APS type 1.

Methods: Retrospective review of case notes of patients with clinical APS type 1.

Results: Four patients were identified with clinical APS type 1. All the patients were Caucasian. Patients 1–3 have a known homozygous AIRE mutation.

Discussion: The five patients described demonstrate the range of conditions seen in APS type 1. Thus far, there has been limited genotype: phenotype correlation. Chronic active hepatitis and hypergonadotrophic hypogonadism can present in up to 50% of patients. Malabsorption including pancreatic insufficiency present in up to 20%. Of note autoimmune colitis and interstitial nephritis have not been described before in this condition.