Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep394 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Thiamine-responsive megaloblastic anemia syndrome with dysrhythmia

El Ebrashy Ibrahim , El Haddad Hemmat , Moustafa Heba , Galal Mai , Salam Randa , Magdi Mohamed

Introduction: Thiamine responsive megaloblastic anemia syndrome(TRMA), is an autosomal recessive disorder due to mutation of gene (SLC19A2) encoding thiamine transporter protein TRMA ischaracterized by a triad of anemia, diabetes mellitus, and sensorineural deafness.Case report: A 15 year old girl admitted to the ERwith diabetic ketoacidosis. She was diagnosed as neonatal diabetesat the age of 16 months and wasput on insulin therapy. Her parents arehealt...

ea0070aep556 | General Endocrinology | ECE2020

Autoimmune polyglandular syndrome (APS) type 2 associated with chronic kidney disease

El Ebrashy Ibrahim , ElHaddad Hemmat , Moustafa Heba , El Rawi Hoda , Amin Samar , Taraby Aya , Salam Randa , Magdi Mohamed

Introduction: Autoimmune polyglandular syndrome (APS) is a rare disease, that is defined by the presence of two or more glandular insufficiencies caused by autoimmune mechanisms and that may be associated with other pathologies and immunological phenomena. It is characterized by the Presence of circulating organ specific antibodies and lymphocytic infiltration of the affected gland.Case report: A 38-year-old female known to have autoimmune polyglandular ...