Pendred syndrome

What is Pendred Syndrome?

Pendred syndrome is an inherited condition that affects the body's ability to make a protein called pendrin, which is important for normal functions of the inner ear and thyroid.

People with the condition are usually born severely to profoundly deaf, although some lose their hearing rapidly in infancy or early childhood and others have only moderate hearing loss that does not worsen over time. The inner ear malformations that are typical of Pendred syndrome may also cause balance problems.

Affected individuals may develop a goiter, a large swelling at the base of the neck caused by thyroid enlargement. This symptom usually appears several years after hearing loss is diagnosed. It can happen at any time during late childhood, adolescence, or adulthood. Pendred syndrome does not usually affect thyroid function, however goiters can put pressure on the esophagus and windpipe, interfering with swallowing and breathing.

How common is Pendred Syndrome?

The frequency of Pendred syndrome is unknown, but some researchers believe it is responsible for 1 in 10 infants who are born deaf.

How is Pendred Syndrome treated?

Treatment for Pendred syndrome focuses on addressing hearing loss. Children with the condition should be fitted for hearing aids early in life. Cochlear implants show some promise for restoring some hearing to people who are severely to profoundly deaf. Children should receive special educational programs for the hearing-impaired.

For those who develop goiters large enough to cause breathing or swallowing difficulties, treatment may include radioactive iodine to shrink the swelling or surgery to remove all or part of the thyroid.

What is the prognosis for a person with Pendred Syndrome?

Pendred syndrome causes moderate to profound hearing loss, but does not affect lifespan.