Sensori-Neural Deafness and Hypothyroidism: Autoimmunity Causing ‘Pseudo-Pendred Syndrome’

Male, dizygotic twins were diagnosed with sensori-neural deafness at ages 5 and 21 months and later developed hypothyroidism at ages 24 and 28 months, respectively. Analysis for anti-DEP-1/CD148 autoantibodies described in Cogan syndrome proved positive. As these antibodies are directed against endothelial cells as well as sensory epithelial cells the children need long-term monitoring for associated complications.