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Pendred Syndrome is a rare inherited genetic disorder that primarily affects hearing and thyroid function. It is caused by mutations in the SLC26A4 gene, which plays an important role in the normal development and function of the inner ear and thyroid gland. Individuals with Pendred Syndrome typically experience congenital or early-onset sensorineural hearing loss that may range from mild to profound and can worsen over time.

A common feature of this condition is an abnormality of the inner ear known as an enlarged vestibular aqueduct (EVA), which can contribute to progressive hearing impairment and balance difficulties. Some people may also develop episodes of dizziness or vestibular dysfunction. Hearing loss may occur suddenly or gradually, often following minor head injuries or changes in pressure.

In addition to hearing-related symptoms, many affected individuals develop a goiter, which is an enlargement of the thyroid gland. Although thyroid enlargement is common, thyroid hormone levels often remain normal. Regular monitoring of thyroid health is recommended to detect any changes early.

Diagnosis involves hearing assessments, genetic testing, thyroid evaluation, and imaging studies of the inner ear. While there is no cure for Pendred Syndrome, treatment options such as hearing aids, cochlear implants, speech therapy, and ongoing medical monitoring can significantly improve communication abilities and overall quality of life.