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Pendred syndrome

Reviewed June 2008

What is Pendred syndrome?

Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid gland to malfunction.

In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. In other cases, hearing loss does not develop until later in infancy or early childhood.

Other abnormalities of the inner ear are also common in Pendred syndrome. Some affected individuals have problems with balance caused by dysfunction of the part of the inner ear that helps maintain the body's balance and orientation (the vestibular system). Additionally, a structure called the vestibular aqueduct is unusually large in people with Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the brain cavity. An enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome, but it is not the cause of hearing loss in people with this condition.

How common is Pendred syndrome?

Pendred syndrome is a common form of syndromic deafness (hearing loss that occurs with signs and symptoms affecting other parts of the body). This condition likely accounts for about 10 percent of all hereditary hearing loss. The exact incidence of Pendred syndrome is unknown.

What genes are related to Pendred syndrome?

Mutations in the SLC26A4 gene cause about half of all familial cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin is not fully understood, this protein is important for the normal functions of the thyroid and inner ear. Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts ion transport. Impaired pendrin activity in the thyroid and inner ear is responsible for the characteristic signs and symptoms of Pendred syndrome.

In some cases, the cause of Pendred syndrome is unknown. Researchers are looking for additional genetic changes that may underlie the condition.

How do people inherit Pendred syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for Pendred syndrome?

You may find information on treatment or management of Pendred syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Pendred syndrome?

You may find the following resources about Pendred syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Goiter (http://www.nlm.nih.gov/medlineplus/ency/article/001178.htm)
    • Encyclopedia: Hearing loss (http://www.nlm.nih.gov/medlineplus/ency/article/003044.htm)
    • Health Topic: Hearing Disorders and Deafness (http://www.nlm.nih.gov/medlineplus/hearingdisordersanddeafness.html)
    • Health Topic: Thyroid Diseases (http://www.nlm.nih.gov/medlineplus/thyroiddiseases.html)
  • Additional NIH Resources - National Institutes of Health
    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.125)
    • National Institute on Deafness and Other Communication Disorders: Enlarged Vestibular Aqueducts and Childhood Hearing Loss (http://www.nidcd.nih.gov/health/hearing/eva.htm)
    • National Institute on Deafness and Other Communication Disorders: Genetics of Enlarged Vestibular Aqueducts (EVA) (http://www.nidcd.nih.gov/health/hearing/genetics.asp)
    • National Institute on Deafness and Other Communication Disorders: Pendred Syndrome (http://www.nidcd.nih.gov/health/hearing/pendred.asp)
  • Educational resources - Information pages
    • American Thyroid Association: Goiter (http://www.thyroid.org/patients/patient_brochures/goiter.html)
    • Ask the Geneticist: Treatment of goiter in Pendred syndrome (http://www.askthegen.org/question.php?question_id=904)
    • Children's Hospital of Philadelphia, Center for Childhood Communication (http://www.chop.edu/consumer/jsp/division/generic.jsp?id=72075)
    • Deaf DOC (http://www.deafdoc.org/)
    • Laurent Clerc National Deaf Education Center, Gallaudet University (http://clerccenter.gallaudet.edu/)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,560/)
    • Molecular Otolaryngology Research Laboratory, University of Iowa (http://www.healthcare.uiowa.edu/labs/pendredandbor/pdsBackground.htm)
    • Molecular Otolaryngology Research Laboratory, University of Iowa: Perchlorate Test (http://www.healthcare.uiowa.edu/labs/pendredandbor/perchTest.htm)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=705)
    • The University of Texas: Pediatric Hearing Loss (http://www.utdallas.edu/~thib/rehabinfo/)
  • Patient support - For patients and families
    • Alexander Graham Bell Association for the Deaf and Hard of Hearing (http://www.agbell.org/)
    • American Speech-Language-Hearing Association (http://www.asha.org)
    • Family Village (http://www.familyvillage.wisc.edu/lib_deaf.htm)
    • Hearing Loss Association of America (http://www.hearingloss.org/)
    • National Association of the Deaf (http://www.nad.org)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/hearing.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pendred)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=3482)
  • ACTion Sheets - Newborn screening follow up
    • ACTion sheet: Congenital hearing loss >~30db (http://www.acmg.net/resources/policies/ACT/Act_Sheet-Hearing-Loss_4-17-06.pdf)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((pendred+syndrome[TIAB])+OR+(goiter-deafness+syndrome[TIAB])+OR+(pendred's+syndrome[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Hereditary Hearing Loss (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=254)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274600)

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Pendred syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Pendred syndrome?

autosomal ; autosomal recessive ; bicarbonate ; cell ; charged particles ; chloride ; familial ; gene ; goiter ; hormone ; incidence ; ions ; ion transport ; malformation ; mutation ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; sign ; symptom ; syndrome ; thyroid ; vestibular aqueduct ; vestibular system

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Gene Review (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pendred)
  • Nance WE. The genetics of deafness. Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12784229)
  • Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005 Feb;42(2):159-65. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15689455)
  • Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM. 2000 Feb;93(2):99-104. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10700480)
  • Wilcox ER, Everett LA, Li XC, Lalwani AK, Green ED. The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. Adv Otorhinolaryngol. 2000;56:145-51. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10868226)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2008
Published: May 4, 2009