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 Pendred 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 a goiter. Regular monitoring of thyroid function is important for those affected, as they may require treatment to manage their thyroid health. Early diagnosis can help improve quality of life.