Pendred Syndrome

Genetic deafness with thyroid goiter and inner ear malformation

Overview

Pendred syndrome is an autosomal recessive condition caused by variants in the SLC26A4 gene, which encodes pendrin, a protein that transports ions in the inner ear and the thyroid gland. It causes sensorineural hearing loss that is usually present at birth or in early childhood and is often associated with an enlarged vestibular aqueduct, sometimes with an incomplete cochlear partition known as a Mondini malformation. Hearing may fluctuate and decline in steps, and minor head injury and large pressure changes are thought to trigger some of these drops. Many affected people develop an enlarged thyroid gland, a goitre, typically in late childhood or adulthood, while thyroid hormone levels often remain normal. Balance problems may occur. Diagnosis combines imaging of the inner ear, genetic testing, and sometimes a perchlorate discharge test of thyroid function. It is one of the most common forms of syndromic hereditary deafness and was first described by the English physician Vaughan Pendred in 1896. Management includes hearing aids or cochlear implants and monitoring of thyroid function.