Episode 41: AACE Clinical Case Report on Wolfram Syndrome

Wolfram syndrome (WS) is a rare genetic disorder in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Listen to endocrine experts Fumihiko Urano, MD, PhD. Samuel E. Schechter Professor of Medicine at Washington University School of Medicine, and Sina Jasim, MD, MPH, Associate Professor of Medicine at Washington University School of Medicine, discuss a new clinical case report on two patients with Wolfram syndrome who were initially diagnosed with type 1 diabetes but were negative for islet autoantibodies. Key topics include the importance of distinguishing between Wolfram syndrome and type 1 diabetes, the significance of the homozygous vs. compound heterozygous pathogenic variants in WFS1 gene, how the management and treatment for Wolfram syndrome differs from that of type 1 diabetes, the current status of therapeutic interventions, and much more. Visit https://doi.org/10.1016/j.aace.2022.01.001 to read the full AACE Clinical Case Report.