Pendred Syndrome

Pendred Syndrome is an inherited disorder characterized by hearing loss and thyroid abnormalities. It is one of the most common forms of syndromic deafness, accounting for approximately 5-10% of hereditary hearing loss cases. The condition is named after Vaughan Pendred, the British physician who first described it in 1896.

The hallmark feature of Pendred Syndrome is sensorineural hearing loss, which is typically bilateral and present from birth or early childhood. The severity can range from mild to profound, and hearing may remain stable or progressively worsen over time. Many affected individuals have structural abnormalities of the inner ear, including an enlarged vestibular aqueduct (EVA) and sometimes Mondini dysplasia (incomplete development of the cochlea).

Thyroid problems in Pendred Syndrome result from impaired iodide transport into thyroid cells. While affected individuals typically have normal thyroid hormone levels due to compensatory mechanisms, they often develop goiter (enlarged thyroid) in late childhood or adulthood. The goiter is usually painless and develops gradually. Some individuals may eventually develop hypothyroidism requiring treatment.

Pendred Syndrome is caused by mutations in the SLC26A4 gene, which encodes pendrin, a protein involved in iodide and chloride transport. The condition is inherited in an autosomal recessive pattern. Mutations in the same gene can also cause non-syndromic hearing loss (DFNB4) without thyroid involvement. Diagnosis is confirmed through genetic testing and imaging of the inner ear.

NutraHacker examines the following gene related to Pendred Syndrome:

• SLC26A4

For more information about your own genetic profile as related to Pendred Syndrome, please check out our NutraHacker Carrier Status and Drug Response Report.

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