Pendred syndrome is a rare genetic disease characterized by deafness and enlarged thyroid, which results in the onset of goiter. This disease develops in childhood.
Pendred syndrome is incurable, but there are certain medications that can help regulate thyroid hormone levels in the body or some techniques to improve hearing and language.
Despite the limitations, the person with Pendred syndrome can lead a normal life.
Symptoms of Pendred syndrome may include
Deafness in Pendred syndrome is progressive, begins right after birth and worsens over the years; for this reason, the development of language during childhood is complicated and children often run out of speech.
Goiter is the result of thyroid functioning problems, resulting in changes in hormone levels in the body, which can cause hypothyroidism in individuals; However, although these hormones influence the growth of individuals, patients with this disease have normal development.
The diagnosis of Pendred syndrome can be made by audiometry, a test that measures the individual’s hearing ability; Magnetic resonance imaging to evaluate the functioning of the inner ear or genetic tests to identify mutations in the gene responsible for the appearance of this syndrome. Thyroid function test can also be helpful in confirming this disease.
Treatment of Pendred syndrome does not cure the disease, but it helps control the symptoms of patients.
In patients who have not yet completely lost their hearing, hearing aids or cochlear implants may be placed to regain some of the hearing. The best specialist to consult in these cases is the otolaryngologist. Speech therapy sessions can help improve language and speech in individuals.
To treat thyroid problems, especially goiter, and decreased thyroid hormones in the body, it is advisable to consult an endocrinologist to indicate thyroxine hormone supplementation to control thyroid function.