Fifteen Cases of Pendred's Syndrome: Congenital Deafness and Sporadic Goiter

Abstract

Pendred's syndrome is defined as a triad: congenital perceptive hearing loss, goiter, and an abnormal perchlorate test. Fifteen patients have been discovered who comply with these three criteria. Bilateral malformation of the cochlea of Mondini type was found in one patient by histological examination. Six, possibly seven, cases of the same defect were found in the remaining 14 patients by tomography of the temporal bones in the axial-pyramidal projection. The most important feature of the defect is that only the basal cochlear turn is retained while the apical turns form a common cavity. The defect is caused by a fault in the development of the modiolus in the seventh fetal week. The lesions in the ears of patients with Pendred's syndrome, similar to the thyroid defect, possibly results from a deficiency in the peroxidase enzyme system.