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Pendred’s syndrome: Treatment, symptoms, advice and help

About pendred’s syndrome

Pendred’s syndrome is a genetic disorder that causes early hearing loss in children which mostly affects both ears. The hearing loss is sensorineural in type, occurring due to deformity in the inner ear which is not only responsible for hearing but also for maintaining body balance. Pendred’s syndrome may also be associated with thyroid disorders.

Pendred’s syndrome: Incidence, age and sex

Pendred’s syndrome is accountable for about 7.5 % cases of congenital deafness. The affected child may exhibit signs of this syndrome at birth or by 2-3 years of age. No gender predilection has yet been documented.

Signs and symptoms of pendred’s syndrome: Diagnosis

Pendred’s syndrome is associated with hearing loss which is usually, but not always, present since birth. It generally affects both ears but the degree of hearing loss may differ in both ears. Hearing impairment may result in difficulty in learning speech and language also. The hearing loss is progressive and gradually worsens with time. The child may also develop vertigo or giddiness. 75% of affected individuals develop enlargement of thyroid gland, also called as goitre. The thyroid gland is a small glandular organ placed in the throat and is responsible for normal growth and metabolic functions of the body.

Clinical examination of the ear by an otolaryngologist may help in detecting the sensorineural hearing loss. Audiometry tests can be done to assess the degree of hearing loss. Thyroid function tests are done to identify mild cases of thyroid dysfunction even if there are no such symptoms. Genetic testing to test the Pendrin gene is the most sensitive diagnostic test which can establish the diagnosis.

Causes and prevention of pendred’s syndrome

Pendred’s syndrome is caused by mutation in the Pendrin gene (SLC26A4). It is an autosomal recessive disease where the chance of the sibling having the disease of an affected parent is 25%; in fact the baby will be afflicted with this syndrome only when it receives defective genes from both the parents.

The affected individuals are advised to take necessary steps to prevent any head injury which may further deteriorate the condition. Activities like scuba diving, skiing or diving are better avoided.

Pendred’s syndrome: Complications

Pendred’s syndrome can lead to developmental delay because of the associated hearing loss and vestibular dysfunction like vertigo.

Pendred’s syndrome: Treatment

There is no specific treatment for Pendred’s syndrome. In fact, a multi-disciplinary approach may be needed which involves the expertise of an otolaryngologist, speech and language therapist, genetic counsellor and an endocrinologist. Speech and language support includes learning of sign language. Cochlear implants may be needed in individuals with significant hearing loss. A cochlear implant is an electronic device which is surgically inserted into inner ear and helps in understanding speech and overcoming language problem. Individuals with goitre are treated with thyroxine supplements. Regular lab measurement of thyroid hormone may be required to adjust the dose of thyroxine accordingly. The affected individuals usually lead an independent and productive life with the help of supportive therapies.