An Overview On Pendred Syndrome

Pendred syndrome is associated with genetics most of the time. You need to learn more about this thyroid disease as it affects hearing as well as the vestibular system. Learn about its connection with goiter as well.

Genetic diseases have been neglected over the years. These diseases are associated with alterations in an individuals’ genetic code embedded in the DNA. Although these are most often incurable, the signs and symptoms can be managed to avoid further complications and improve an individuals’ way of life. We have heard so much of genetic disease discovered for the last two decades but what we have heard of are those that are common in our country. We haven’t heard much about Pendred Syndrome. By reading this article you are to discover this genetic disease which your family might have.

What is Pendred Syndrome?

Pendred syndrome is a genetic disease characterized by hearing loss and goiter. Sometimes it also affects the vestibular system which is responsible for maintaining the body’s balance and orientation. Pendred syndrome is inherited in an autosomal recessive manner. Therefore, both parents of a child with Pendred syndrome must have the abnormal gene to develop the condition.

The syndrome was named after Dr. Vaughn Pendred who first described the condition in an Irish family. Pendred syndrome is also known by other names such as deafness with goiter, goiter-deafness syndrome, and thyroid hormone organification defect IIb.

Pendred syndrome, hearing and the vestibular system

Hearing loss of children with Pendred syndrome may be evident at birth. This is referred to as congenital deafness. In some cases, hearing loss develops later in infancy or early childhood. It is noted that hearing loss is progressive, meaning it worsens over the years and can lead to total deafness at a later age. It may also be described as bilateral, affecting both ears. Most often it may be greater on one ear than in the other.

As stated earlier it can sometimes affect the individual’s vestibular system. The vestibular system is found in the inner ear and a dysfunction to this can lead to problems in maintaining balance. Although 40% of individuals diagnosed with Pendred syndrome presents with vestibular weakness, most of them can do their routine tasks daily and do not have problems with their balance.

Pendred syndrome and goiter

The thyroid gland is a ductless gland consisting of two lobes shaped like a butterfly situated in front of the trachea. Goiter or an enlarged thyroid gland is another characteristic of individuals with Pendred syndrome. It secretes hormones responsible for regulating an individuals’ metabolism or the body’s ability to convert energy from the food we eat. The healthy thyroid is important for growing children. However, an individual with Pendred syndrome rarely develops growth and development problems even if their thyroid is affected.

Goiter is most often evident in teens or individuals in their late twenties. The person diagnosed with Pendred syndrome with an enlarged thyroid can cause breathing and swallowing difficulties. A regular physical examination by a doctor is advised should there be treatments needed.

By learning these facts about Pendred syndrome, you might as well tell your friends and colleagues about its characteristics. Your family might not have the condition but by spreading the word you might as well help others. Genetic counselling is always available in the health institutions near you.

Tags: deafness with goiter, genetic diseases, genetics, goiter, goiter-deafness syndrome, Pendred syndrome, thyroid glands, thyroid hormone organification

Click here for Top Thyroid Products reviewed by our staff