Pendred Syndrome

What is Pendred Syndrome? Pendred syndrome is a rare genetic disorder characterised by severe to profound sensorineural hearing impairment and a malformation of certain bones in the inner ear.

The physical changes in the inner ear occur in 85% of the cases of Pendred syndrome. Pendred syndrome is a result of a defect in the production of the thyroid hormone, which controls the metabolism and helps regulate body growth. As a result, Pendred syndrome can also be characterised by goitre, an enlargement of the thyroid gland in the neck near the Adam's apple. If a goitre develops, it usually forms sometime after the onset of hearing loss.

Pendred syndrome is hereditary and the hearing loss is often evident at birth. In some cases, however, the syndrome does not develop until early childhood. The degree of hearing loss changes very little over the years.

Symptoms of Pendred syndrome

The symptoms of Pendred syndrome are:

  • Sensorineural hearing loss present at birth
  • Inner ear changes and enlargement of the thyroid gland
  • Balance problems caused by altered vestibular function

Treatment of Pendred syndrome

While there is no treatment for Pendred syndrome and the hearing loss that follows, some of the symptoms may be treated.

It is advisable for those affected by Pendred syndrome to have regular visits with an audiologist (a hearing specialist) and an ear-nose-throat physician to check for changes in the hearing ability. Hearing aids can benefit people with milder forms of hearing loss. If the hearing loss is very severe a cochlear implant may be used. To treat problems with the thyroid gland an endocrinologist (a physician specialised in disorders of the hormone system) might be consulted.

Pendred syndrome is also known as Deafness with goitre, Goitre-deafness syndrome, Thyroid hormone organification defect IIb or Autosomal Recessive Sensoineural Hearing Impairment and Goitre.

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