Pendred Syndrome - Diagnosis

What were your symptoms that resulted in a diagnosis of Pendred syndrome? Did you or a friend or relative notice symptoms?

Share your story with others:

MedicineNet appreciates your comment. Your comment may be displayed on the site and will always be published anonymously.Patient Comments FAQs

Enter your Comment

Tell us a bit about your background to make your comments more useful to other MedicineNet users. (Optional)

Screen Name: *

Gender of Patient: Male Female

Age Range of Patient:

I am a: Patient Caregiver


* Screen Name will appear next to the published comment. Please do not include your full name or email address.

By submitting your comment, and other materials (collectively referred to as a "Submission") to MedicineNet, you grant MedicineNet permission to use, copy, transmit, publish, display, edit and modify your Submission in connection with its Web site. MedicineNet will not pay you for your Submission. You represent that you have all rights necessary for MedicineNet to use your Submission as set forth above.

Please keep these guidelines in mind when writing your comment:

  • Please make sure you address the question asked.
  • Due to the overwhelming number of comments received, not all comments will be published.
  • When selecting comments to publish, our staff will choose those that are educational and complement the topic. Please try to stay on topic.
  • Your comment may be edited. We would typically edit comments to make them clearer and more readable. We will remove personal information such as last names, email and web addresses, and other potentially harmful information.
  • We will not notify you if your comment has been published. We suggest that you check back on the topic article regularly.
  • We do not provide medical or healthcare advice, treatment, or diagnosis.

Thank you for participating!


I have read and agree to abide by the MedicineNet Terms and Conditions and the MedicineNet Privacy Policy (required).

To prevent our systems from spam, please complete the following prior to submitting your comment.

Please select the white circle:

How is Pendred syndrome diagnosed?

A physician called an otolaryngologist or a clinical geneticist will consider a person's hearing, inner ear structures, and sometimes the thyroid in diagnosing Pendred syndrome. The specialist will evaluate the timing, amount, and pattern of hearing loss. He or she will ask questions such as:

  • "When did the hearing loss start?,"

  • "Has it worsened over time?," and

  • "Did it happen suddenly or in stages?."

Early hearing loss is one of the most common characteristics of Pendred syndrome; however, this symptom alone does not mean a child has the condition.

The specialist uses inner ear imaging techniques known as magnetic resonance imaging (MRI) or computed tomography (CT or CAT) to look for two key characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. The cochlea is the spiral-shaped part of the inner ear that converts sound into electrical signals that are sent to the brain. A healthy cochlea has two-and-a-half turns, but the cochlea of a person with Pendred syndrome may have only one-and-a-half turns.

A second characteristic of Pendred syndrome is enlarged vestibular aqueducts (see figure). The vestibular aqueduct is a bony canal that runs from the vestibule (a part of the inner ear between the cochlea and the semicircular canals) to the inside of the skull. Inside the vestibular aqueduct is a fluid-filled tube called the endolymphatic duct, which ends at a balloon-shaped endolymphatic sac. When the vestibular aqueduct is enlarged, the endolymphatic duct and sac grow large with excess fluid in comparison to their normal sizes. The function of the vestibular aqueduct is not well understood.

Picture of the Inner Ear

Picture of the Inner Ear

When screening for Pendred syndrome, it is not recommended to test the blood for thyroid hormone because the amount usually is the same whether someone has Pendred syndrome or not. Some people may receive a "perchlorate washout test," a test that determines whether the thyroid is functioning properly. Although this test is probably the best test for determining thyroid function in Pendred syndrome, it is not used often and may be replaced by genetic testing. Individuals who have a goiter may be referred to an endocrinologist, a doctor who specializes in glandular disorders, to determine whether the goiter is due to Pendred syndrome or to another cause. Goiter is a common feature of Pendred syndrome, but many individuals who develop a goiter do not have Pendred syndrome. Conversely, many people who have Pendred syndrome never develop a goiter.

Return to Pendred Syndrome

STAY INFORMED

Get the latest health and medical information delivered direct to your inbox!