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Pendred syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Pendred syndrome

Pendred syndrome is a genetic disorder typically characterized by sensorineural hearing loss and the development of a thyroid goiter.

Overview

Pendred syndrome is a disorder associated with hearing loss and a thyroid condition called a goiter (an enlargement of the thyroid gland). In most cases, the goiter develops between late childhood and early adulthood and does not cause the thyroid to malfunction.

Symptoms

  • Hearing loss: Severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is usually evident at birth.
  • Balance issues: Dysfunction of the vestibular system can cause problems with balance and orientation.
  • Inner ear abnormalities: A characteristic feature is an enlarged vestibular aqueduct (EVA). Some individuals also have an abnormally shaped cochlea. The combination of these two features is known as Mondini malformation.

Causes

Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. This gene provides instructions for making a protein called pendrin, which transports ions such as chloride, iodide, and bicarbonate. Mutations disrupt ion transport, which affects the development and function of the thyroid gland and the inner ear.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not exhibit symptoms.

Frequently Asked Questions

Pendred syndrome is autosomal recessive; each pregnancy has a 25 % chance of producing an affected child. Couples can consider prenatal diagnostic testing (chorionic villus sampling or amniocentesis) or preimplantation genetic testing with in‑vitro fertilization to identify unaffected embryos. Genetic counseling can help families understand recurrence risks and testing options.
Most patients with Pendred syndrome develop a goiter that is usually euthyroid, meaning thyroid hormone levels remain normal. Routine monitoring includes a physical exam, thyroid ultrasound, and serum TSH and free T4 levels every 6–12 months. If the goiter grows large or hormone levels become abnormal, antithyroid medication or surgery may be considered.
Newborn hearing screening is performed for all infants, but children with Pendred syndrome often show sensorineural hearing loss within the first few months. A diagnostic test called Auditory Brainstem Response (ABR) or otoacoustic emissions (OAE) is used to confirm the degree of loss and to guide hearing aid or cochlear implant decisions. Parents should follow up with a pediatric audiologist if the initial screening is abnormal or if the child shows delayed speech or language milestones.
Vestibular dysfunction can cause dizziness, unsteadiness, and difficulty with spatial orientation. A vestibular evaluation (e.g., videonystagmography) is recommended if symptoms arise. Vestibular rehabilitation therapy—tailored exercises that improve gaze stability and balance—has been shown to reduce symptoms and improve quality of life.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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