Pendred's syndrome is an autosomal recessive disorder that is characterized by bilateral congenital sensorineural hearing loss and goiter, a condition resulting in an enlarged thyroid gland.
The following are symptoms of Pendred's syndrome:
In 50% of Pendred Syndrome cases, the cause is unknown, genetic and environmental factors are suspected, but a cause has not yet been identified.
The mutation of the SLC26A4 gene is the only known cause of Pendred syndrome, responsible for half of all cases. Pendrin is a protein that carries ions such as chloride, iodide, and hydrogen carbonate in and out of cells, and therefore important for maintaining the correct levels of ions in the thyroid and inner ear. The imbalance of these ions disrupts the thyroid gland and the inner ear structures, causing the symptoms of Pendred Syndrome.
Despite the fact that Pendred syndrome cannot be treated, there are specific symptoms that can be managed. Various specialists can be involved in the treatment of this syndrome since it can cause thyroid, hearing, and balance problems. In order to prevent hearing loss progression, people with Pendred Syndrome should:
A diagnosis of Pendred Syndrome is primarily based on:
Computable tomography and/or magnetic resonance imaging can be used to diagnose these abnormalities. A CT is preferred because it shows changes in the bones more clearly. An additional molecular genetic test confirms the diagnosis.
