Searchable abstracts of presentations at key conferences in endocrinology
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45th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Main Symposia

Endocrine Track 1: Symposium 2

ea0051s2.1 | Endocrine Track 1: Symposium 2 | BSPED2017

Abstract unavailable....

ea0051s2.2 | Endocrine Track 1: Symposium 2 | BSPED2017

APS1 – an expanding disease spectrum

Owen Catherine

Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to...