Goiter Caused by SLC26A4 Gene MutationSrivatsa, Sumathi MD, FACEAuthor Information From the Division of Endocrinology, Metabolism, and Lipids, Departments of Medicine, Emory University School of Medicine, Atlanta, GA. Reprints: Sumathi Srivatsa, MD, FACE, Division of Endocrinology, Metabolism, and Lipids, Emory University, 1365 Clifton Rd. NE, Atlanta, GA 30322. E-mail: [email protected] The Endocrinologist: November/December 2010 - Volume 20 - Issue 6 - pp 271-273 doi: 10.1097/TEN.0b013e3181fc364a Buy Metrics Abstract We report and discuss a case of a young woman with a massive goiter, which was attributed to a rare genetic disorder. We review the history and diagnostic tests including radiology, blood tests, and genetic results. Diagnostic tests revealed a large goiter, dilated vestibular aqueduct, mondini dysplasia, and a positive genetic test for SLC26A4 gene mutation. Although sporadic goiter and autoimmune thyroid disorders are common in the population, we suspected Pendred syndrome based on the presentation of massive goiter from dyshormonogenesis and hearing loss. The diagnosis of Pendred syndrome was confirmed by the genetic tests. The implication of the diagnosis is important for further genetic counseling. © 2010 Lippincott Williams & Wilkins, Inc.