Pendred syndrome

What is Pendred syndrome?

Pendred's syndrome is an autosomal recessive disorder that is characterized by bilateral congenital sensorineural hearing loss and goiter, a condition resulting in an enlarged thyroid gland.

What are Pendred syndrome's symptoms?

The following are symptoms of Pendred's syndrome:

  • sensorineural hearing loss of varying severity and onset;
  • goiter - an increase in the volume of the thyroid gland;
  • impaired vestibular function causes vertigo and balance problems.


What causes Pendred syndrome?

In 50% of Pendred Syndrome cases, the cause is unknown, genetic and environmental factors are suspected, but a cause has not yet been identified.

The mutation of the SLC26A4 gene is the only known cause of Pendred syndrome, responsible for half of all cases. Pendrin is a protein that carries ions such as chloride, iodide, and hydrogen carbonate in and out of cells, and therefore important for maintaining the correct levels of ions in the thyroid and inner ear. The imbalance of these ions disrupts the thyroid gland and the inner ear structures, causing the symptoms of Pendred Syndrome. 

Can Pendred syndrome be treated?

Despite the fact that Pendred syndrome cannot be treated, there are specific symptoms that can be managed. Various specialists can be involved in the treatment of this syndrome since it can cause thyroid, hearing, and balance problems. In order to prevent hearing loss progression, people with Pendred Syndrome should:

  • avoid contact sports that can cause head injuries;
  •  whenever possible, wear protective headgear when engaged in activities that may result in head injury (e.g., cycling or skiing);
  • don't dive or scuba dive in situations that can lead to barotrauma (excessive pressure shifts);
  • use hearing aids, no matter how mild or severe the hearing loss. for treatment of thyroid disorders, however, periodic examinations by an endocrinologist are necessary.

How is Pendred syndrome diagnosed?

A diagnosis of Pendred Syndrome is primarily based on:

  • hearing loss;
  • inner ear anomalies of the temporal bone;
  • the presence of goiter;
  • perchlorate test abnormal, useful for determining thyroid function.

Computable tomography and/or magnetic resonance imaging can be used to diagnose these abnormalities. A CT is preferred because it shows changes in the bones more clearly. An additional molecular genetic test confirms the diagnosis.

Get support and advice

Book a free hearing test

Book now

Test your hearing online

Take the test

Find your nearest store

Find a store