Goitre and hearing impairment in a patient with Pendred syndrome
Arwert, L.I.; Sepers, J.M.
Netherlands Journal of Medicine 66(3): 118-120
2008
ISSN/ISBN: 0300-2977 PMID: 18349467 Document Number: 615108
A case is described here of a young euthyroid woman with a goitre and hearing impairment. Perchlorate discharge test showed increased washout of iodine. Genetic analysis confirmed the diagnosis of Pendred syndrome as a mutation in the Pds gene was found. The patient was treated with potassium iodine orally. During follow-up there where no symptoms of hyperthyroidism and the size of the goitre decreased.