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Lookup NU author(s): Dr Bijayeswar Vaidya,
Emeritus Professor Pat Kendall-Taylor
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Pendred syndrome is the autosomal recessively transmitted association of familial goiter and congenital deafness. There is no specific biochemical marker of this disease, and the diagnosis depends upon the demonstration of the triad of congenital sensorineural hearing loss, goiter, and abnormal perchlorate discharge test. Pendred syndrome is caused by mutations within the putative ion transporter gene (PDS gene), located on chromosome 7q. A wide variation in the clinical presentation of this condition, and its well documented phenotypic overlap with other thyroid disorders (such as Hashimoto's thyroiditis), can lead to diagnostic difficulties. The potential for misdiagnosis increases when these disorders occur coincidentally in the same family. We describe a kindred in which Pendred syndrome, autoimmune thyroiditis, and simple goiter coexisted, to highlight these diagnostic pitfalls and to illustrate the use of mutational analysis in resolving diagnostic confusion.
Author(s): Vaidya B, Coffey R, Coyle B, Trembath R, San Lazaro C, Reardon W, Kendall-Taylor P
Publication type: Article
Publication status: Published
Journal: Journal of Clinical Endocrinology and Metabolism
Print publication date: 01/08/1999
ISSN (print): 0021-972X
ISSN (electronic): 1945-7197
Publisher: The Endocrine Society
PubMed id: 10443670
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