Searchable abstracts of presentations at key conferences in endocrinology

ea0085p75 | Miscellaneous 2 | BSPED2022

Three different presentations of a rare monogenetic cause of hypoparathyroidism in a small district general hospital

Yu Connie , Ramgasami Jayanti

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), is a rare autosomal recessive cause of polyendocrinopathy. Mutations in the AIRE (Autoimmune regulator) gene results in failure of T cell tolerance. APECED occurs in about 1 in 90,000 to 1 in 200,000 people but is more prevalent in certain groups (Iranian Jews, Sardinians, and Finns). Its presentation depends on the gene mutation. The classic triad of symptoms are chronic mucocutaneous candidiasis, hypopa...