Thyroid Specialist

Thyroid Specialist

Hypothyroidism in Pendred Syndrome - The Thyroidal Involvement in Pendred Syndrome

The Syndrome

Pendred syndrome is a disorder that is characterized by early hearing loss in children. It is a genetic syndrome which also affects the thyroid gland and the balance of the patient. Children with this disorder may lose their hearing at birth or until they are up to three years of age. Hearing loss is sudden and happens in stages. It is also progressive, which means that the child will hear less as time passes and some of them may go totally deaf.

Almost all children with the syndrome become bilaterally deaf or has some degree of deafness in both ears. It is also common for one ear to be deafer than the other.

The Thyroidal Involvement

The thyroid is a small organ located in front of the trachea immediately below the larynx. This gland produces the two hormones necessary to regulate the body’s metabolic rate. In children, it also plays an important role in growth although children with the syndrome do not usually have growth problems even with involvement of the thyroid.

The disorder is genetic and is caused by mutations in the SLC26A4 gene. This gene is also found in the cochlea, the thyroid, and the kidney. In the ear, it causes the early hearing loss as well as loss of balance to some degree. In the thyroid, it causes less organification of iodine, hence, lesser thyroid hormone is produced.

Organification of iodine is the process in which iodine binds to the thyroglobulin molecule of the thyroid. It is necessary for iodine to bind with the tyrosine residues in the thyroglobulin molecule for the thyroid hormone to form.

Most people with the syndrome often develop a goiter. This goiter develops usually in their teens or twenties. If the goiter becomes too large, the patient may suffer problems in breathing and swallowing and a physician may recommend surgical removal of the thyroid if it poses too much problem.

Screening

An otolaryngologist or a clinical geneticist may be called upon to help in the diagnosis of this disorder in a child. Usually, the specialist would examine the structures of the inner ear, as well as the degree of hearing loss, its history, and pattern. To some degree, the thyroid may also be included in the examination.

A characteristic feature of a child with the disorder is a cochlea with too few turns. The cochlea is a spiral organ located in the ear, which helps in the function of hearing. Normally, the cochlea possesses two and a half turns but commonly, in patients with the syndrome, the cochlea has only one and a half turns.

In screening for the disorder, it is not recommended to test for concentrations of thyroid hormone because it is usually the same as that of a person with the disorder. However, there is a test called the perchlorate washout testthat may be used to assess thyroid function that could be more helpful in assessing thyroidal involvement in the syndrome but it has been generally replaced by genetic testing.

Treatment

Pendred syndrome cannot be cured. Parents could only help their children by making informed choices about the long-term effects of the disorder. Children should be taught to learn alternative communication skills such as sign language early on. Some patients may even be eligible for a cochlear implant, which may give the patient a new way understanding of speech although it does not restore normal hearing.

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About the Author

Anybody know a good thyroid specialist in or around mesa AZ that accepts mercy care insurance?

Couple of questions have you had radiation on thyroid yet if so and your syntheroid or some other type of medicine your best of just seeing a doctor alot of cheaper and they do the same thing.
Here's some number not sure if they take your insurance or not.

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