Pendred Syndrome
Pendred Syndrome is a genetic disorder that primarily affects hearing and thyroid function. It is caused by mutations in the SLC26A4 gene, which plays a crucial role in the inner ear and thyroid gland. Individuals with this syndrome often experience hearing loss, which can be present at birth or develop later in life.
In addition to hearing impairment, Pendred Syndrome can lead to an enlarged thyroid gland, known as goiter. Diagnosis typically involves hearing tests and genetic testing. Management may include hearing aids or cochlear implants for hearing loss and monitoring thyroid function to address any related issues.