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.
Davis
Nikki
N
Department of Endocrinology and Diabetes, Bristol Royal Hospital for Children, Bristol, UK.
Lunardi
Claudio
C
Shield
Julian P H
JP
D001323:Autoantibodies; D004200:Diseases in Twins / Q000235:genetics / Q000276:immunology*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000276:immunology*; D007223:Infant; D008297:Male; D017027:Protein Tyrosine Phosphatases / Q000276:immunology*; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3; D014429:Twins, Dizygotic
D001323:Autoantibodies; C486288:PTPRJ protein, human; D017027:Protein Tyrosine Phosphatases; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3