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]


Information & Support

For Professionals

Pendred Syndrome/DFNB4 (GeneReviews)

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

For Parents and Patients

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


Pediatric Genetic Counseling

See all Pediatric Genetic Counseling services providers (2) in our database.

Pediatric Genetics

See all Pediatric Genetics services providers (4) in our database.

Pediatric Otolaryngology

See all Pediatric Otolaryngology services providers (7) in our database.

For other services related to this condition, browse our Services categories or search our database.

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: Richard Harward, AuD - 8/2010
Karl White, Ph D - 8/2008
Content Last Updated: 8/2010

Page Bibliography

GeneTests Home Page.
(2005) 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) 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