Pendred

Pendred syndrome is a genetic disorder that causes hearing loss, and often, problems with the thyroid gland. The condition is named after Vaughan Pendred, the British doctor who first described it.

Signs and Symptoms

People with Pendred syndrome are born with severe to profound sensorineural hearing loss in both ears. Most affected individuals also have vestibular abnormalities which can affect their balance.

Many people with Pendred syndrome also develop a goiter, an enlargement of the thyroid gland. This typically occurs in late childhood or early adulthood. Some affected individuals can have hypothyroidism, a condition in which the thyroid gland does not produce enough hormones.

Causes

Pendred syndrome is caused by mutations in the SLC26A4 gene. This gene provides instructions for making a protein that is found in the inner ear and the thyroid. Mutations in the SLC26A4 gene disrupt the function of this protein, leading to the signs and symptoms of Pendred syndrome.

Diagnosis

The diagnosis of Pendred syndrome is based on the clinical findings of hearing loss and thyroid problems. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for Pendred syndrome. Treatment is focused on managing the symptoms. This may include hearing aids or cochlear implants for the hearing loss, and thyroid hormone replacement therapy for hypothyroidism.

See Also

• Genetic disorder
• Hearing loss
• Thyroid gland
• Sensorineural hearing loss
• Vestibular abnormalities
• Goiter
• Hypothyroidism
• SLC26A4

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