Pendred Syndrome

Pendred syndrome is a genetic disorder that can cause hearing loss and thyroid issues. Some children are born with hearing loss. Others may develop hearing loss as they get older. Later, they may develop an enlarged thyroid gland (goiter).

Pendred syndrome is rare. It affects 7 to 10 out of 100,000 people.

There’s no cure for this disorder. But research shows early intervention, including hearing aids or cochlear implants, may make it easier for your child to hear and communicate.

Symptoms of Pendred syndrome

The main symptom is hearing loss that can be moderate to profound. With moderate hearing loss, your child can hear someone talking, but they may have trouble understanding them. Children with profound hearing loss can’t hear.

Your child may be born with hearing loss or develop it during infancy or childhood. Hearing screening tests for newborn babies often detect hearing loss. But your baby may have hearing issues that screening misses. If your baby or young child has hearing loss, they may not:

• React or startle to noise
• Respond when you say their name
• Say their first word by age 1
• Start speaking at the same time as children their age
• Understand what you say, so they ask you to repeat words

People with Pendred syndrome often develop enlarged thyroid glands during adolescence or adulthood. Other less common symptoms are balance issues or hypothyroidism.

Pendred syndrome causes

A genetic change (variation) in the SLC26A4 gene causes Pendred syndrome. This gene contains instructions for making the pendrin protein. This protein supports the development of your child’s inner ear and thyroid. The thyroid releases hormones that help control how the body uses energy and other functions.

The genetic change leads to issues like:

• Sensorineural hearing loss
• Enlarged vestibular aqueduct
• Abnormal cochlea, the organ in your child’s inner ear that helps them hear
• Enlarged thyroid (goiter)

Risk factors

The main risk factor is having the genetic change that causes Pendred syndrome. Pendred syndrome is an autosomal recessive condition. Meaning, you need to inherit two copies of the faulty gene (one from each biological parent) to develop it.

If you only inherit one copy of the changed gene from one parent, you’re a genetic carrier. That means you carry the gene, but you don’t develop symptoms.

Some people don’t learn they’re carriers until their child is born with the syndrome. In that case, it means both parents are genetic carriers.

With each pregnancy, there’s a 1 out of 4 chance that a child will have Pendred syndrome.

How doctors diagnose Pendred syndrome

Your child’s pediatrician will ask about your child’s symptoms. They may check your child’s ears for issues. They may ask if other family members have hearing loss. Your child may have other tests, including:

• Auditory brainstem response: This test checks how your child’s inner ear and brain work together to support hearing. Audiologists often use this test to check hearing in babies and children.
• Otoacoustic emissions test: This is another test that audiologists use to check hearing in babies and children. It shows if your child’s inner ear works as it should.
• Pure-tone testing: Older children may have this test. It finds the quietest sounds your child can hear at different pitches.
• CT scan or MRI: Providers do imaging tests to check your child’s cochlea and inner ear canal.
• Genetic tests: Your provider may check for the genetic variation that causes Pendred syndrome.

Your child may have other tests to check for thyroid issues.

How is Pendred syndrome treated?

Your child’s treatment will focus on managing hearing loss and thyroid issues. There’s no cure for Pendred syndrome. But hearing devices may improve your child’s hearing. Your child may need medication to help their thyroid make hormones. Treatments may include:

• Hearing aids: Hearing aids make sounds louder and easier for your child to hear.
• Cochlear implants: With this procedure, a surgeon puts an electronic device under your child’s skin. Your child wears a processor over the implant. The processor sends sound signals to the hearing nerve.
• Frequency modulation (FM) systems: These devices are used along with hearing aids or implants. Your child wears a receiver while you wear a small microphone. The FM system uses radio waves to send what you say into the microphone directly to the receiver.
• Auditory-verbal therapy: This is treatment for infants and very young children who use hearing aids or have cochlear implants.
• Hearing habilitation: Older children who develop hearing loss may have this treatment. The therapy helps children adjust to hearing loss. They also learn to use visual cues and read lips, which can make it easier for them to communicate.
• Thyroid treatments: Your child may need to take thyroid supplements if they have an underactive thyroid. They may need surgery to remove a large goiter (thyroidectomy).

When should my child see their healthcare provider?

Schedule an appointment with your child’s provider if you think they have trouble hearing. The earlier your child receives a diagnosis, the sooner there can be interventions to help manage and treat hearing loss.

What can I expect if my child has this condition?

Pendred syndrome is a lifelong condition. But early identification and treatment can make it easier for your child to hear and help them to express themselves.