Pendred Syndrome
Description
Pendred Syndrome is a genetic disorder that primarily affects hearing and can also impact thyroid function. It is characterized by progressive hearing loss and the presence of enlarged vestibular aqueducts (EVAs) in the inner ear. This blog post provides a comprehensive overview of Pendred Syndrome, covering its signs and symptoms, causes, diagnosis, management strategies, and tips for thriving with the condition.
Genes Involved
Pendred Syndrome is caused by mutations in the SLC26A4 gene. This gene provides instructions for making a protein called pendrin, which plays a crucial role in transporting iodine into the thyroid gland and maintaining fluid balance in the inner ear.
Recognizing the Signs and Symptoms
The most prominent symptom of Pendred Syndrome is progressive hearing loss, often starting in childhood. Other signs may include:
- Enlarged vestibular aqueducts (EVAs): These are fluid-filled canals in the inner ear that are abnormally large in individuals with Pendred Syndrome.
- Goiter: An enlarged thyroid gland, which may occur in some cases.
- Hypothyroidism: A condition where the thyroid gland doesn‘t produce enough thyroid hormone.
- Balance problems: Difficulty with balance and coordination may be present in some individuals.
Causes
Pendred Syndrome is an inherited genetic disorder. This means it is passed down from parents to their children. If one parent carries the mutated gene, there is a 50% chance their child will inherit the disorder.
Inheritance/recurrence risk
Pendred Syndrome is inherited in an autosomal recessive pattern. This means that both parents must carry the mutated gene for their child to develop the condition. If both parents are carriers, each of their children has a 25% chance of inheriting the disorder, a 50% chance of being a carrier, and a 25% chance of not inheriting the gene at all.
