Searchable abstracts of presentations at key conferences in endocrinology

ea0034p393 | Thyroid | SFEBES2014

Deafness and goitre: think pendred

Virdee Jasvir , Warwick Russell , Rao Ranganatha , Ryder Robert , De Parijat

Introduction: Pendred syndrome is a rare autosomal recessive condition characterised by sensorineural deafness, goitre and impaired iodine organification. We report a case of a 43-year-old female who presented with hearing impairment, and the development of a multinodular goitre with tracheal compression. Perchlorate testing and genetic studies confirmed a diagnosis of Pendred syndrome. She subsequently underwent partial thyroidectomy and requires lifelong follow-up.<p cla...