Disruption of Auditory Function by Thyroid Hormone Receptor Mutations

Abstract

More than a century ago, associations between deaf-mutism, cretinism, and goiter were reported. Since then, our understanding for the role of T3 and its receptors in auditory system development has greatly advanced. Much of current understanding is due to the creation of genetic mouse models that have allowed for the dissection of individual components of thyroid hormone action, including the thyroid hormone receptors. This chapter highlights our existing knowledge for the role of T3 and the thyroid hormone receptors, TRα and TRβ, in cochlear development and auditory function that have obtained from these important genetic models. It also discusses auditory deficits in humans with the syndrome of resistance to thyroid hormone caused by mutations in the thyroid hormone receptors. It concludes by briefly discussing where the deficiencies in our understanding of thyroid hormone action in cochlear development remain.