Nevada Medical Home Portal - Hearing Loss and Thyroid Disease (Pendred Syndrome)

Pendred syndrome is a genetic condition leading to early sensorineural hearing loss and variable development of a goiter. Goiter is present in approximately 75% of individuals with Pendred syndrome. Approximately 40% develop goiter in late childhood or early puberty, with the remainder presenting in early adulthood. Genetic screening for the Pendred syndrome gene (PDS, SLC26A4) is available on a clinical basis. Despite the presence of goiter as one of the defining clinical features of this disease, only 50% of individuals with Pendred syndrome have hypothyroidism, while the remaining 50% are euthyroid. Most children with Pendred syndrome have normal growth and development. Children with Pendred syndrome should be evaluated by a pediatric otolaryngologist, particularly because of the association with inner ear anomalies (e.g., enlarged vestibular aqueduct). It is estimated that 5% of all children born with hearing loss may have Pendred syndrome. The underlying defect appears to bean abnormality in iodine trapping. Consultation with a geneticist or genetic counsellor is recommended to coordinate testing for Pendred syndrome. [McKusick: 2004] [GeneTests/GeneReviews: 2005] [Gorlin: 1995] [Reardon: 1997] [Li: 1998]

Resources

Information & Support

For Professionals

Pendred Syndrome/DFNB4 (GeneReviews)

Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American Academy of Pediatrics.

For Parents and Patients

Pendred Syndrome (NIDCD)
from the National Institute on Deafness and Other Communication Disorders

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Helpful Articles

Borck G, Seewi O, Jung A, Schönau E, Kubisch C.
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.
J Clin Endocrinol Metab. 2009;94(6):2106-9. PubMed abstract

Authors & Reviewers

Initial publication: September 2008; last update/revision: August 2010

Current Authors and Reviewers:

Authors:	Richard Harward, AuD
	Karl White, Ph D

Page Bibliography

GeneTests/GeneReviews.
GeneTests Home Page.
(2005) http://www.genetests.org. Accessed on 02/03/05.
provides information concerning diagnosis, management, and genetic counseling in Pendred syndrome. This site also provides information on clinically available genetic screens for the Pendred syndrome gene (PDS). Registration is required.

Gorlin RJ.
Genetic hearing loss associated with endocrine and metabolic disorders.
Hereditary Hearing Loss and its Syndromes. 1995; 1. New York: Oxford University Press

Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.
A mutation in PDS causes non-syndromic recessive deafness.
Nat Genet. 1998;18(3):215-7. PubMed abstract

McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Pendred Syndrome; PDS- in Online Mendelian Inheritance in Man, OMIM (TM); MIM number: 274600.
McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2004) http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274600. Accessed on 02/03/05.
provides a detailed medical description of Pendred syndrome, including alternative names, abbreviations, and the discoveries of various researchers.

Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R.
Pendred syndrome--100 years of underascertainment?.
QJM. 1997;90(7):443-7. PubMed abstract