Goitre and hearing impairment in a patient with Pendred syndrome.
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.
Arwert
L I
LI
Department of Internal Medicine and Endocrinology, Medical Centre Alkmaar, Wilhelminalaan 12, 1815 JD Alkmaar, the Netherlands. l.i.arwert@mca.nl
Sepers
J M
JM
D000328:Adult; D005260:Female; D006042:Goiter / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D017613:Iodine Compounds / Q000627:therapeutic use; D010472:Perchlorates; D011193:Potassium Iodide / Q000627:therapeutic use; D011859:Radiography; D011877:Radionuclide Imaging; D013577:Syndrome; D013961:Thyroid Gland / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology
D017613:Iodine Compounds; D010472:Perchlorates; D011193:Potassium Iodide; C494474:perchlorate