What is Pendred syndrome?
Pendred syndrome is the name given to a type of sensorineural hearing loss that is present at birth (congenital) or develops during early childhood.
Pendred syndrome symptoms
The main symptom of Pendred syndrome is hearing loss in both ears. This is often present from birth, but some cases will develop a little later into childhood. Other symptoms associated with Pendred syndrome include:
Problems with language development or communication (this often happens shortly after the onset of hearing loss)
Hearing loss that gets worse over time (progressive hearing loss)
An enlarged thyroid gland (goitre)
Problems with balance
Pendred syndrome diagnosis
Pendred syndrome is usually identified in the first few weeks after a baby is born. You might be offered a newborn hearing test at the hospital, or you might choose to have it later on during other newborn checks. If you haven’t been offered this kind of service, just talk to your GP.
If there are any questions about your baby’s ears, you’ll be referred to a hearing specialist who will carry out some more detailed tests to assess their hearing. They will go through the results with you and offer you some advice on next steps, if necessary.
Pendred syndrome causes
Pendred syndrome is a congenital condition, which means that it is present from birth. It’s caused by a gene that is inherited from both of your parents. This doesn’t mean that your parents also have Pendred syndrome but means that they are both ‘carriers’ of the abnormal gene that causes the condition.
How does Pendred syndrome affect your body?
Many cases of Pendred syndrome are also linked to a problem with the thyroid gland. The thyroid is found at the base of your neck and produces the hormones your body needs to regulate how the energy from our food is used (metabolism). You might have heard the term ‘over-active thyroid’ or ‘under-active thyroid’ which relates to either weight gain or weight loss associated with varying rates of metabolism.
Sometimes the thyroid becomes enlarged, which is known as a goitre. In most cases, this just causes a lump or swelling in the neck, without any other symptoms. It’s important to note that not everyone with Pendred syndrome will have a goitre, or any problems with their thyroid, but it does mean that they are at a higher risk of developing one later in life.
Pendred syndrome can sometimes affect the vestibular system within the ear, which controls our balance. However, most people won’t tend to be affected too much by balance problems.
Pendred syndrome treatment
Although there is no cure for Pendred syndrome, there are methods that can help people to learn to live with the changes associated with this kind of hearing loss.
For children, this might involve speech and language therapy, learning sign language or using a hearing aid to help them communicate.
Some people with significant or profound hearing loss from Pendred syndrome might be eligible for cochlear implants. This is a surgical procedure that helps to create the sensation of sound for the brain. It doesn’t restore hearing, but it can be helpful in improving communication.
If you also have a goitre with Pendred syndrome, you may need to see a see a specialist for ongoing monitoring, and you might need to take medication if the function of your thyroid is affected.
A specialist will be able to recommend the best option.
FAQs
Hearing loss from birth or early childhood, usually in both ears. People with Pendred syndrome can also have an enlarged thyroid gland called a goitre, found at the front of the neck, just above the collarbone. Most people won’t tend to have any noticeable symptoms from a goitre, apart from a noticeable lump or swelling at the base of the neck.
A goitre doesn’t directly cause hearing loss, but is associated with the condition Pendred syndrome, which causes sensorineural hearing loss.