Pendred Syndrome

What is Pendred syndrome?

Pendred syndrome is a genetic condition typically associated with hearing loss and goiter, which is an enlargement of the thyroid gland (a butterfly-shaped organ at the base of the neck that produces hormones). Hearing loss is often evident at birth, but in some cases it does not develop until later in infancy or early childhood. Abnormalities of bones in the inner ear are also common in Pendred syndrome. If a goiter develops, it usually forms sometime after the onset of hearing loss, during late childhood, adolescence, or adulthood.

How common is Pendred syndrome?

This condition is one of the most common forms of syndromic deafness (hearing loss associated with a genetic syndrome). Pendred syndrome accounts for at least 5 percent of cases of profound hearing loss. Its exact incidence is unknown.

What genes are related to Pendred syndrome?

Mutations in the SLC26A4 gene cause Pendred syndrome.

The SLC26A4 gene produces a protein called pendrin. This protein transports negatively charged particles (anions), particularly chloride and iodide, into and out of cells. Although the exact function of pendrin is not fully understood, it appears to be important for normal thyroid function and inner ear development. Mutations in the SLC26A4 gene likely impair pendrin activity, disrupting the transport of negatively charged particles. Disrupted transport in the thyroid and inner ear leads to the characteristic signs and symptoms of Pendred syndrome.

How do people inherit Pendred syndrome?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for Pendred syndrome?

  • Autosomal Recessive Sensorineural Hearing Impairment and Goiter
  • Deafness with goiter
  • Goiter-deafness syndrome
  • Pendred's syndrome

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