ea0034p393 | Thyroid | SFEBES2014
, 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...