[Pendred syndrome as a cause of familial deafness]

Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and goiter. The gene responsible for this syndrome is located on chromosome 7q31. The disorder is related to a defect in iodine organification, but the molecular basis of the defect remains unknown. We report two cases of Pendred syndrome, a young woman and her brother. The patients presented deafness, goiter that appeared in the prepubertal years, and a positive perchloriate discharge test. The genetic factors, clinical features, and diagnosis are reviewed.