Pendred syndrome is a rare genetic disease characterized by deafness and enlargement of the thyroid, resulting in the appearance of goiter. This disease develops in childhood.
Pendred Syndrome has no cure but there are some medications that can help regulate 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:
- Loss of hearing;
- Goiter;
- Difficulty speaking or dumbing;
- Lack of balance.
Deafness in Pendred Syndrome is progressive, beginning soon after birth and worsening over the years. For this reason, the development of language during childhood is complicated, and children often become dumb.
Goiter results from problems in the functioning of the thyroid, leading to changes in the levels of hormones in the body, which can lead to 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 Syndrome can be done through audiometry, a test that helps measure the ability of the individual to hear; magnetic resonance imaging to assess the functioning of the inner ear or genetic testing to identify mutation in the gene responsible for the onset of this syndrome. Thyroid function testing may also be helpful in confirming this disease.
Treatment of Pendred Syndrome
Treatment of Pendred Syndrome does not cure the disease, but it helps control the symptoms presented by patients.
In patients who have not yet fully 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 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.
Useful links:
- Hurler syndrome
- Alport's Syndrome
- Goiter
