Pendred syndrome

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Pendred Syndrome

Pendred syndrome (/ˈpɛndrɪd/; also known as Pendred's syndrome or goitre-deafness syndrome) is a genetic disorder that affects the thyroid gland and can lead to hearing loss. The syndrome is named after Vaughan Pendred, the British doctor who first described it in 1896.

Etymology

The term "Pendred syndrome" is derived from the name of the British doctor, Vaughan Pendred, who first described the condition. The term "syndrome" is derived from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "concurrence of running together".

Symptoms

Pendred syndrome is characterized by the presence of a goitre, which is an enlargement of the thyroid gland, and sensorineural hearing loss, which is a type of hearing loss that results from damage to the inner ear or the nerve pathways from the inner ear to the brain. Other symptoms may include balance problems and speech difficulties.

Causes

Pendred syndrome is caused by mutations in the SLC26A4 gene. This gene provides instructions for making a protein that is involved in the formation of the thyroid gland and the inner ear.

Diagnosis

Diagnosis of Pendred syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing and imaging studies.

Treatment

There is currently no cure for Pendred syndrome. Treatment is symptomatic and supportive, and may include thyroid hormone replacement therapy, hearing aids, and speech therapy.

See also

External links

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