Pendred syndrome

Pendred's syndrome is a rare genetic disease that is characterized by deafness and an enlarged thyroid, resulting in the appearance of goiter. This disease develops in childhood.

Pendred's syndrome has no cure, but there are some medications that can help regulate the levels of thyroid hormones in the body or some techniques to improve hearing and language.

Despite the limitations, the individual with Pendred Syndrome can lead a normal life.

Symptoms of Pendred Syndrome

Symptoms of Pendred syndrome can be:

Hearing loss; Goiter; Difficulty speaking or speechlessness; Lack of balance.

Deafness in Pendred's Syndrome is progressive, starting right after birth and worsening over the years. For this reason, language development during childhood is complicated, and children often become speechless.

Goiter results from problems in the functioning of the thyroid, leading to changes in the levels of hormones in the body, which can cause hypothyroidism in individuals. However, although these hormones influence the growth of individuals, patients with this disease have a normal development.

Diagnosis of Pendred Syndrome

The diagnosis of Pendred's Syndrome can be made through audiometry, an exam that helps to measure the individual's ability to hear; 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. The thyroid function test can also be useful to confirm this disease.

Treatment of Pendred Syndrome

The treatment of Pendred's Syndrome does not cure the disease, but it helps to control the symptoms presented by patients.

In patients who have not yet completely lost their hearing, hearing aids or cochlear implants can be placed to recover part of the hearing. The best specialist to consult in these cases is the otorhinolaryngologist. Speech therapy and speech therapy sessions can help to improve language and speech in individuals.

To treat thyroid problems, particularly goiter, and the reduction of thyroid hormones in the body, it is advisable to consult an endocrinologist to indicate supplementation with thyroxine hormone in order to control thyroid function.