Endocrine Abstracts

Introduction: Thiamine responsive megaloblastic anemia (TRMA) syndrome, also known Rogers syndrome is a rare autosomal recessive inherited disorder characterized by a triad features of megaloblastic anemia, sensorineural deafness and diabetes mellitus. TRMA manifestation is caused by mutations in the gene SLC19A2 encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells.Case Presentation...