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

[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 .