Mediterr. J. Otol 2007; 3:(2)
Anneliese Schrott-Fischer, Andreas Janecke, Rudolf Glueckert, Andrea Ciorba
Department of Otolaryngology, Medical University Innsbruck, Austria. Annelies.schrott@i-med.ac.at
The aim of this paper is to present cochlear histopathologic findings of a patient affected by Pendred syndrome and to review the main genetic and clinical aspects of this condition.
Pendred syndrome is an autosomal recessive disorder characterized by deafness and goiter. The main clinical features of Pendred syndrome include sensorineural hearing loss, typically bilateral, prelingual, and more severe in the high frequencies, and goiter, usually not present until puberty, at which time the thyroid becomes diffusely enlarged. Pendrin, a glycoprotein produced by the Pendred gene, acts as an iodide/chloride transporter in vitro, and its location indicates it may be involved in endolymph homeostasis.