hrp0092p2-208 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Polyendocrine Sydrome Type I: A Neuroendocrine Multi-Systemic Disease with a Variable Expressivity

Carpino Andrea , Pinon Michele , Montin Davide , Tuli Gerdi , de Sanctis Luisa , Matarazzo Patrizia

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...