Goiter and hearing impairment: A case of a male patient with Pendred syndrome

Pendred syndrome is a rare genetic disease that causes a disturbance in thyroid hormone synthesis, which results in thyroid dysfunction and the development of goiter and sensorineural deafness. The present report describes the case of a young euthyroid male, who developed a large goiter and hearing impairment, despite no family history of these conditions. A left lobectomy and a subtotal right lobectomy were performed, and the patient was administered permanent hormone replacement therapy with thyroxine. Patients with Pendred syndrome exhibit distinct clinical features and the mechanisms associated with the molecular genetics of this disease have been clarified. Thus, gene detection is considered to be a reliable diagnostic method. Certain patients require surgical intervention in order to relieve the symptoms. Misdiagnosis can be significantly reduced by increasing the understanding of Pendred syndrome.