Syndrome of Pendred

The syndrome of Pendred is a Genetic disease associating a Surdité transmission, osseous anomalies of the internal ear and a Goiter thyroid secondary with a disorder of the transport of iodine towards the thyroid cell.

The presence of thyroid anomaly is variable; the goiter is not present at the birth but develops in puberty (40%) or with the old adult (60%). The vestibular function is abnormal in the majority of the cases.

The disease has an extreme variability inter and will intra family in the gravity of the symptoms and the age of their appearance

Sources

• Richard JH Smith, Guy Van Camp, Pendred Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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