Pendred syndrome

What Is Pendred Syndrome?

Pendred syndrome, caused by mutations in the SLC26A4 gene, is an inherited condition in which the body's ability to make a protein called pendrin is impaired. Pendrin plays an essential role in normal functions of the inner ear and thyroid.

Individuals with Pendred syndrome experience profound deafness that is usually present from birth, though severity can vary. Some individuals with Pendred syndrome may lose their hearing rapidly in infancy or early childhood, while moderate hearing loss may not worsen over time in other individuals. Typical inner-ear malformations in individuals with Pendred syndrome may also affect one's balance.

Some individuals may also experience an abnormal enlargement of the thyroid (also known as a goiter) which can present itself as a large swelling at the base of the neck. This symptom is usually secondary to a diagnosis of hearing loss and can happen at any time throughout one's life. While thyroid function is usually not affected by Pendred syndrome, goiters can disrupt swallowing and breathing due to pressure placed on the esophagus and windpipe.

How Common Is Pendred Syndrome?

The frequency of Pendred syndrome is unknown, but some researchers believe it may be the cause of up to 10% of infant deafness.

How Is Pendred Syndrome Treated?

Treatment for Pendred syndrome addresses hearing loss early in life, including hearing aids for children with the condition. Cochlear implants show promise for restoring some hearing to individuals with severe to profound deafness. Children should receive special educational programs for the hearing impaired.

Breathing or swallowing difficulties caused by goiters may be treated using radioactive iodine to shrink the swelling. Surgical removal of all or part of the thyroid may also be an option.

What Is the Prognosis for an Individual with Pendred Syndrome?

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