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Pendred Syndrome

What is Pendred syndrome?

Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes may affect a person's balance. The syndrome is named after Vaughan Pendred, the physician who first described individuals with the disorder.

Children who are born with Pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. The hearing loss is progressive, which means that a child will have less hearing over time. Some individuals may become totally deaf.

The loss of hearing often happens suddenly and in stages. Sometimes, after a sudden decrease in hearing, a person's hearing will nearly return to its previous level. Almost all people with Pendred syndrome have bilateral hearing loss, or hearing loss in both ears. The hearing loss often is greater in one ear than in the other.

How does Pendred syndrome affect other parts of the body?

Pendred syndrome can affect the thyroid by causing it to grow too large. An enlarged thyroid gland also is called a goiter. The thyroid is a small, butterfly-shaped gland in the front of your neck, just above your collarbones. The thyroid plays a major role in how your body uses energy from food. In children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems growing and developing properly even if their thyroid is affected.

Roughly 60 percent of individuals with Pendred syndrome will develop a goiter in their lifetime. Most people with Pendred syndrome are in their teens or twenties before they develop a goiter. If a goiter becomes large, a person may have problems breathing and swallowing. A health professional is needed to check a person's goiter over time and decide what treatment is necessary.

Pendred syndrome also may affect the vestibular system, which controls balance. About 40 percent of individuals with Pendred syndrome will show some vestibular weakness when their balance system is tested. However, the brain is very good at making up for a weak vestibular system, and most children and adults with Pendred syndrome do not have a problem with their balance or have difficulty doing routine tasks. Some babies with Pendred syndrome may start walking later than other babies.

It is not known why some individuals with Pendred syndrome develop a goiter or have balance problems and others do not.


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