About Pendred syndrome

Is there a cure/medications for Pendred syndrome?

There is no cure for Pendred syndrome, but medications can be used to manage the symptoms. These include diuretics to reduce fluid buildup in the inner ear, hearing aids to improve hearing, and medications to reduce dizziness. Surgery may also be used to correct inner ear malformations.

What are the risk factors for Pendred syndrome?

The primary risk factor for Pendred syndrome is having a parent who carries a mutation in the SLC26A4 gene. Other risk factors include having a family history of Pendred syndrome, being of Northern European descent, and having a consanguineous (related) parent.

What are the treatments for Pendred syndrome?

The primary treatment for Pendred syndrome is hearing aids or cochlear implants to help improve hearing. Other treatments may include speech therapy, physical therapy, and educational support. Surgery may be recommended to correct any inner ear malformations. In some cases, medications may be prescribed to help manage balance problems.

What are the causes of Pendred syndrome?

Pendred syndrome is caused by mutations in the PDS gene. This gene provides instructions for making a protein called pendrin, which is involved in the transport of molecules across cell membranes. Mutations in the PDS gene lead to the production of an abnormal form of pendrin, which disrupts the normal transport of molecules in the inner ear and thyroid gland.

What are the symptoms of Pendred syndrome?

The most common symptoms of Pendred syndrome include hearing loss, balance problems, and a goiter (enlarged thyroid gland). Other symptoms may include:

- Abnormal inner ear structures

- Low calcium levels
- Low levels of thyroid hormones
- Developmental delays
- Vision problems
- Kidney problems
- Abnormal facial features
- Abnormalities of the hands and feet
- Heart defects

What is Pendred syndrome?

Pendred syndrome is an inherited disorder that affects the inner ear and is characterized by hearing loss and an enlarged thyroid gland. It is caused by a mutation in the PDS gene, which is responsible for the production of a protein involved in the development of the inner ear and thyroid gland. Symptoms of Pendred syndrome include hearing loss, balance problems, and goiter (enlarged thyroid gland). Treatment typically involves hearing aids and thyroid hormone replacement therapy.