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AI InsightThis article reports a case of Pendred's syndrome; reviews etiopathogenesis and treatment.
📌 3 Maddede Bu Makale
Abstract
Pendred's syndrome is characterized by familiar goitre and congenital deafmutism. Its prevalance in adults is equal in both sexes and about 1-8/100.000. The prevalance increases to 8-10 % in congenital deafness. The hearing loss is frequently not recognised for several years, because of clinical diagnostic difficulties. Radiological studies such as computerized tomography, MR Imaging and histopathological studies showed that the deafness in Pendred's syndrome is due to the Mondini type congenital malformation of cochlea. The goitre couldn't be recognised until developing a large nodular enlargement or hy-perplasia! The organification defect due to defective thyroperoxidase activity is responsible for goitre. Pendred's syndrome is inherited as an autosomal recessive pattern. This article reports a case of Pendred's syndrome; reviews etiopathogenesis and treatment.