Pendred Syndrome

Pendred syndrome's symptoms are sensorineural (nerve) hearing loss with low thyroid function (hypothyroidism). Hearing loss severity ranges from mild to severe and can get worse over time. Some people with Pendred syndrome have inner ear abnormalities that can be identified on CT or MRI scans.

The hypothyroidism often appears in adolescence or adulthood, sometimes manifesting itself as an enlarged thyroid (also called a goiter). In some cases, hypothyroidism isn't identified, making it difficult to diagnose children with apparently isolated hearing loss. Since standard thyroid function studies often don't help detect the thyroid problem, your child's doctor may order specialized testing, called a perchlorate discharge test.

Pendred syndrome, which is caused by mutations in a gene called PDS, is an autosomal recessive condition.

Reviewed by: Lynn Bason, MS, CGC; Ian Krantz, MD; William P. Potsic, MD, MMM
Date: April 2002