Goiter Caused by SLC26A4 Gene Mutation

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.