| The Syndrome | | | | swallowing and a physician may recommend |
| Pendred syndrome is a disorder that is | | | | surgical removal of the thyroid if it poses too |
| characterized by early hearing loss in children. It is | | | | much problem. |
| a genetic syndrome which also affects the thyroid | | | | Screening |
| gland and the balance of the patient. Children with | | | | An otolaryngologist or a clinical geneticist may be |
| this disorder may lose their hearing at birth or until | | | | called upon to help in the diagnosis of this disorder |
| they are up to three years of age. Hearing loss is | | | | in a child. Usually, the specialist would examine the |
| sudden and happens in stages. It is also | | | | structures of the inner ear, as well as the degree |
| progressive, which means that the child will hear | | | | of hearing loss, its history, and pattern. To some |
| less as time passes and some of them may go | | | | degree, the thyroid may also be included in the |
| totally deaf. | | | | examination. |
| | | | A characteristic feature of a child with the |
| The Thyroidal Involvement | | | | disorder is a cochlea with too few turns. The |
| The thyroid is a small organ located in front of | | | | cochlea is a spiral organ located in the ear, which |
| the trachea immediately below the larynx. This | | | | helps in the function of hearing. Normally, the |
| gland produces the two hormones necessary to | | | | cochlea possesses two and a half turns but |
| regulate the body's metabolic rate. In children, it | | | | commonly, in patients with the syndrome, the |
| also plays an important role in growth although | | | | cochlea has only one and a half turns. |
| children with the syndrome do not usually have | | | | In screening for the disorder, it is not |
| growth problems even with involvement of the | | | | recommended to test for concentrations of |
| thyroid. | | | | thyroid hormone because it is usually the same as |
| The disorder is genetic and is caused by | | | | that of a person with the disorder. However, |
| mutations in the SLC26A4 gene. This gene is also | | | | there is a test called the perchlorate washout |
| found in the cochlea, the thyroid, and the kidney. | | | | testthat may be used to assess thyroid function |
| In the ear, it causes the early hearing loss as well | | | | that could be more helpful in assessing thyroidal |
| as loss of balance to some degree. In the thyroid, | | | | involvement in the syndrome but it has been |
| it causes less organification of iodine, hence, lesser | | | | generally replaced by genetic testing. |
| thyroid hormone is produced. | | | | Treatment |
| Organification of iodine is the process in which | | | | Pendred syndrome cannot be cured. Parents could |
| iodine binds to the thyroglobulin molecule of the | | | | only help their children by making informed choices |
| thyroid. It is necessary for iodine to bind with the | | | | about the long-term effects of the disorder. |
| tyrosine residues in the thyroglobulin molecule for | | | | Children should be taught to learn alternative |
| the thyroid hormone to form. | | | | communication skills such as sign language early |
| Most people with the syndrome often develop a | | | | on. Some patients may even be eligible for a |
| goiter. This goiter develops usually in their teens | | | | cochlear implant, which may give the patient a |
| or twenties. If the goiter becomes too large, the | | | | new way understanding of speech although it |
| patient may suffer problems in breathing and | | | | does not restore normal hearing. |