Living with Pendred syndrome
An inherited condition with hearing loss that is usually present at birth and a thyroid gland enlargement (goiter).
Understanding Pendred syndrome
In most people, severe to profound hearing loss from inner ear changes is present at birth. Some people have balance problems. A goiter, if it forms, usually appears between late childhood and early adulthood and most often does not stop the thyroid from working. An enlarged vestibular aqueduct, a bony canal in the inner ear, is a typical feature.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear (sensorineural)
- Enlarged thyroid gland (goiter)
- Enlarged vestibular aqueduct
- Underactive thyroid (hypothyroidism)
- Differences in the inner ear and cochlea
- Balance problems (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: congenital hypothyroidism due to dyshormonogenesis 2b; deafness with goiter; deafness with goitre; gdth iib; genetic defect in thyroid hormonogenesis 2b; genetic defect in thyroid hormonogenesis ii b
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pendred syndrome.
Explore research for Pendred syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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