{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:55:04Z","timestamp":1783486504166,"version":"3.55.0"},"reference-count":52,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Pendred syndrome (PS), a recessive disorder caused by mutations in the\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      (\n                      <jats:italic toggle=\"yes\">PDS<\/jats:italic>\n                      ) gene, is associated with deafness and goiter.\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA). Our aim was to describe systematically the thyroidal phenotypes and the\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      genotypes of patients presenting with PS or nonsyndromic EVA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Nineteen patients with PS and 23 patients with nonsyndromic EVA, aged 5\u201353 years, were included. They underwent thyroid evaluation (physical examination, biological thyroid function tests, measurement of thyroglobulin level, thyroid ultrasonography, and thyroid\n                      <jats:sup>123<\/jats:sup>\n                      I scintigraphy with perchlorate discharge test), otological evaluation, and\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutation screening.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      In 19 patients with PS, goiter was identified in 15 (79%) and hypothyroidism in 15 (79%); hypothyroidism was subclinical in four patients and congenital in six patients. The perchlorate discharge test (PDT) was positive in 10\/16 (63%). Morphological evaluation of the inner ear using MRI and\/or CT showed bilateral EVA in 15\/15 PS patients. Mutation screening revealed two\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutant alleles in all 19 PS patients that were homozygous in two families and compound heterozygous in 12 families. In the 23 patients with nonsyndromic EVA, systematic thyroid evaluation found no abnormalities except for slightly increased thyroglobulin levels in two patients.\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations were identified in 9\/23 (39%). Mutations were biallelic in two (compound heterozygous) and monoallelic in seven patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      The thyroid phenotype is widely variable in PS.\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutation screening is needed in patients exhibiting PS or nonsyndromic EVA. PS is associated with biallelic\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations and nonsyndromic EVA with no, monoallelic, or biallelic\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations. Systematic thyroid evaluation is recommended in patients with nonsyndromic EVA associated with one or two\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations. We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and\/or hypothyroidism and\/or a positive PDT; (iii) biallelic\n                      <jats:italic toggle=\"yes\">SLC26A4<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/thy.2013.0164","type":"journal-article","created":{"date-parts":[[2013,11,14]],"date-time":"2013-11-14T06:19:17Z","timestamp":1384409957000},"page":"639-648","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":36,"title":["Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct"],"prefix":"10.1177","volume":"24","author":[{"given":"Miriam","family":"Ladsous","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Regional University Hospital Center (CHRU) of Lille, Lille, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Vlaeminck-Guillem","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Regional University Hospital Center (CHRU) of Lille, Lille, France."},{"name":"Medical Faculty, Lyon I University","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviane","family":"Dumur","sequence":"additional","affiliation":[{"name":"Regional University Hospital Center (CHRU) of Lille","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Vincent","sequence":"additional","affiliation":[{"name":"Regional University Hospital Center (CHRU) of Lille","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Dubrulle","sequence":"additional","affiliation":[{"name":"Regional University Hospital Center (CHRU) of Lille","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire-Marie","family":"Dhaenens","sequence":"additional","affiliation":[{"name":"Regional University Hospital Center (CHRU) of Lille","place":["France"]},{"name":"Lille Nord de France University","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"W\u00e9meau","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Regional University Hospital Center (CHRU) of Lille, Lille, 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