hrp0084p1-151 | Miscelleaneous | ESPE2015

A Case of Autoimmune Polyglandular Syndrome Type I Presenting as Progressive Generalised Lipodystrophy in a 15-month-old Child

Sorkina Ekaterina , Frolova Elena , Rusinova Dina , Polyakova Svetlana , Vasilyev Evgeny , Petrov Vasily , Tiulpakov Anatoly

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...