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Concurrence of Pendred Syndrome, Autoimmune Thyroiditis, and Simple Goiter in One Family

Department of Medicine (Endocrinology) (B.V., P.K.-T.), University of Newcastle upon Tyne, NE2 4HH, United Kingdom; Department of Clinical Genetics and Fetal Medicine (R.C., W.R.), Institute of Child Health, University of London, WC1N 1EH, United Kingdom; Department of Genetics and Department of Medicine and Therapeutics (B.C., R.T.), University of Leicester, LE1 7RH, United Kingdom; and Department of Paediatrics (C.S.L.), Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, United Kingdom

Address all correspondence and requests for reprints to: Dr. B.Vaidya, Department of Medicine, 4th Floor Leech Building, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom. E-mail: bvaidya{at}hgmp.mrc.ac.uk

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.

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