{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:55:00Z","timestamp":1783486500995,"version":"3.55.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"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":[[2023,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Congenital hypothyroidism due to defects in iodotyrosine deiodinase has variable phenotypes and can present as hypothyroid or with normal thyroid testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Whole exome sequencing was performed in individuals from two families originating from different regions of Sudan. Mass spectrometry of urine and serum iodotyrosines was performed on subjects from both families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A novel iodotyrosine deiodinase (IYD) mutation (c.835C&gt;T; R279C) was identified in individuals from two Sudanese families inherited as autosomal recessive. The mutation was identified by multiple in silica analyses to likely be detrimental. Serum and urine monoiodotyrosine (MIT) and diiodotyrosine (DIT) were markedly elevated in the homozygous subjects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Measurement of serum and urine DIT and MIT was more sensitive than that of urine iodine or serum thyroid function tests to determine the effect of the IYD mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/thy.2022.0492","type":"journal-article","created":{"date-parts":[[2023,1,12]],"date-time":"2023-01-12T11:53:34Z","timestamp":1673524414000},"page":"261-266","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C)"],"prefix":"10.1177","volume":"33","author":[{"given":"Reham","family":"Shareef","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, University of AlMughatribeen, Khartoum, Sudan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aryel","family":"Furman","sequence":"additional","affiliation":[{"name":"Department of Medicine; University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yui","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Medicine; University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Bruellman","sequence":"additional","affiliation":[{"name":"Department of Medicine; University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2743-770X","authenticated-orcid":false,"given":"Alexandra M.","family":"Dumitresu","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0164-8231","authenticated-orcid":false,"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Pediatrics and The University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Committee on Genetics, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bertolini","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7467-7960","authenticated-orcid":false,"given":"Marco","family":"Bors\u00f2","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Saba","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Zucchi","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy E.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Medicine; University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,2,14]]},"reference":[{"key":"e_1_3_7_2_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2020.0333"},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2017.03.006"},{"key":"e_1_3_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.03.010"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgz297"},{"key":"e_1_3_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_3_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_3_7_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_3_7_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_3_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_3_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mas.21673"},{"key":"e_1_3_7_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/9.4.408"},{"key":"e_1_3_7_13_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-15-10-1216"},{"key":"e_1_3_7_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-16-7-848"},{"key":"e_1_3_7_15_2","doi-asserted-by":"crossref","unstructured":"Medeiros-Neto GS Stanbury JB. The Iodotyrosine Deiodinase Defect. In: Inherited Disorders of the Thyroid System. (Medeiros-Neto GS Stanbury JB. eds.) CRC Press: Boca Raton FL USA; 1994; pp. 139\u2013159.","DOI":"10.1201\/9780429275388-8"},{"key":"e_1_3_7_16_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.04-2023fje"},{"key":"e_1_3_7_17_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0865"},{"key":"e_1_3_7_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3314"},{"key":"e_1_3_7_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706819"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2022.0492","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2022.0492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2022.0492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:09:58Z","timestamp":1777586998000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2022.0492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1089\/thy.2022.0492"],"URL":"https:\/\/doi.org\/10.1089\/thy.2022.0492","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}