{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:16:41Z","timestamp":1761513401599},"reference-count":24,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,8,1]]},"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.1210\/jcem.84.8.5903","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:04:31Z","timestamp":1389200671000},"page":"2736-2738","source":"Crossref","is-referenced-by-count":8,"title":["Concurrence of Pendred Syndrome, Autoimmune Thyroiditis, and Simple Goiter in One Family"],"prefix":"10.1210","volume":"84","author":[{"given":"Bijayeswar","family":"Vaidya","sequence":"first","affiliation":[{"name":"Department of Medicine (Endocrinology) (B.V., P.K.-T.), University of Newcastle upon Tyne, NE2 4HH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Coffey","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Fetal Medicine (R.C., W.R.), Institute of Child Health, University of London, WC1N 1EH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beth","family":"Coyle","sequence":"additional","affiliation":[{"name":"Department of Genetics and Department of Medicine and Therapeutics (B.C., R.T.), University of Leicester, LE1 7RH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Trembath","sequence":"additional","affiliation":[{"name":"Department of Genetics and Department of Medicine and Therapeutics (B.C., R.T.), University of Leicester, LE1 7RH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camille","family":"San Lazaro","sequence":"additional","affiliation":[{"name":"Department of Paediatrics (C.S.L.), Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Reardon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Fetal Medicine (R.C., W.R.), Institute of Child Health, University of London, WC1N 1EH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pat","family":"Kendall-Taylor","sequence":"additional","affiliation":[{"name":"Department of Medicine (Endocrinology) (B.V., P.K.-T.), University of Newcastle upon Tyne, NE2 4HH, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071619460869900_R1","first-page":"532","article-title":"Deaf mutism and goitre.","volume":"2","year":"1896","journal-title":"Lancet"},{"key":"2020071619460869900_R2","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/S0140-6736(58)90866-3","article-title":"Association of congenital deafness with goitre. The nature of the thyroid defect.","volume":"1","author":"Morgans","year":"1958","journal-title":"Lancet"},{"key":"2020071619460869900_R3","first-page":"201","article-title":"Association of congenital deafness with goitre (Pendred\u2019s syndrome); a study of 207 families.","volume":"28","year":"1965","journal-title":"Ann Hum Genet"},{"key":"2020071619460869900_R4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1001\/archotol.1972.00770090473001","article-title":"Fifteen cases of Pendred\u2019s syndrome.","volume":"96","author":"Illum","year":"1972","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"2020071619460869900_R5","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/qjmed\/90.7.443","article-title":"Pendred syndrome - 100 years of underascertainment?","volume":"90","author":"Reardon","year":"1997","journal-title":"Q J Med"},{"key":"2020071619460869900_R6","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF03350112","article-title":"Thyroid function in patients with Pendred syndrome.","volume":"11","author":"Friis","year":"1988","journal-title":"J Endocrinol Invest"},{"key":"2020071619460869900_R7","first-page":"129","article-title":"The inner ear in Pendred\u2019s syndrome.","volume":"66","author":"Hvidberg-Hansen","year":"1968","journal-title":"Acta Otolaryngol (Stockholm)"},{"key":"2020071619460869900_R8","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1017\/S0022215100103470","article-title":"Pendred syndrome-acoustic, vestibular and radiological findings in 17 unrelated patients.","volume":"101","author":"Johnsen","year":"1987","journal-title":"J Laryngol Otol"},{"key":"2020071619460869900_R9","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/S0009-9260(98)80125-6","article-title":"Radiological malformations of the ear in Pendred syndrome.","volume":"53","author":"Phelps","year":"1998","journal-title":"Clin Radiol"},{"key":"2020071619460869900_R10","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ng0496-421","article-title":"Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.","volume":"12","author":"Coyle","year":"1996","journal-title":"Nat Genet"},{"key":"2020071619460869900_R11","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/ng0496-424","article-title":"Pendred syndrome maps to chromosome 7q21\u201334 and is caused by an intrinsic defect in thyroid organification.","volume":"12","author":"Sheffield","year":"1996","journal-title":"Nat Genet"},{"key":"2020071619460869900_R12","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1297-411","article-title":"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).","volume":"17","author":"Everett","year":"1997","journal-title":"Nat Genet"},{"key":"2020071619460869900_R13","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/hmg\/7.7.1105","article-title":"Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).","volume":"7","author":"Coyle","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2020071619460869900_R14","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/hmg\/7.7.1099","article-title":"Two frequent missense mutations in Pendred syndrome.","volume":"7","author":"Van Hauwe","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2020071619460869900_R15","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1365-2265.1977.tb01340.x","article-title":"The spectrum of thyroid disease in a community: the Whickham survey.","volume":"7","author":"Tunbridge","year":"1977","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071619460869900_R16","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1530\/acta.0.0530264","article-title":"Typical and atypical cases of Pendred\u2019s syndrome in one family.","volume":"53","year":"1966","journal-title":"Acta Endocrinol (Copenh)"},{"key":"2020071619460869900_R17","first-page":"157","article-title":"When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred syndrome.","volume":"5","author":"O\u2019Mahoney","year":"1996","journal-title":"J Audiol Med"},{"key":"2020071619460869900_R18","first-page":"1","article-title":"Pitfalls in practice - diagnosis and misdiagnosis in Pendred syndrome.","volume":"6","author":"Reardon","year":"1997","journal-title":"J Audiol Med"},{"key":"2020071619460869900_R19","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1111\/j.1365-2273.1989.tb00392.x","article-title":"The variable intrafamiliar expressivity in Pendred\u2019s syndrome.","volume":"14","author":"Johnsen","year":"1989","journal-title":"Clin Otolaryngol Allied Sci"},{"key":"2020071619460869900_R20","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1177\/000348949510401208","article-title":"Pendred\u2019s syndrome: a study of patients and relatives.","volume":"104","author":"Jamal","year":"1995","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"2020071619460869900_R21","first-page":"719","article-title":"Familial studies of autoimmune thyroiditis.","volume":"2","author":"Hall","year":"1967","journal-title":"Clin Exp Immunol"},{"key":"2020071619460869900_R22","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0140-6736(57)90921-2","article-title":"Defective organic binding of iodine by the thyroid in Hashimoto\u2019s thyroiditis.","volume":"1","author":"Morgans","year":"1957","journal-title":"Lancet"},{"key":"2020071619460869900_R23","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1210\/jcem-31-2-144","article-title":"Significance of iodide-perchlorate discharge test for detection of iodine organification defect of the thyroid.","volume":"31","author":"Takeuchi","year":"1970","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071619460869900_R24","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0022-3476(73)80004-6","article-title":"Prevalence of low titer and \u2018negative\u2019 anti-thyroglobulin antibodies in biopsy-proved juvenile Hashimoto\u2019s thyroiditis.","volume":"82","author":"Loeb","year":"1973","journal-title":"J Pediatr"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/8\/2736\/9215159\/jcem2736.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/8\/2736\/9215159\/jcem2736.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T04:46:08Z","timestamp":1594961168000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/84\/8\/2736\/2864282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,8,1]]},"references-count":24,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1999,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.84.8.5903","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,8,1]]}}}