{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:59:36Z","timestamp":1762473576933,"version":"build-2065373602"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,23]],"date-time":"2020-12-23T00:00:00Z","timestamp":1608681600000},"content-version":"vor","delay-in-days":357,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"IBSA Pharma Inc."}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Endocrine disorders are more common and appear earlier in people with trisomy 21 (T21) than in the general population, with thyroid dysfunction being the most common, including both congenital and acquired hypothyroidism. The treatment for biotinidase deficiency, a condition that occurs in approximately 1\u2009:\u2009110,000 people, is with biotin (vitamin B7) supplementation. However, biotin can interfere with endocrine laboratory assays and cause falsely low thyroid\u2010stimulating hormone (TSH) and elevated free thyroxine (FT4) levels. This can interfere with the timely diagnosis and subsequent treatment of congenital hypothyroidism (CH). This case report describes an infant with partial biotinidase deficiency that was confirmed on day 10 of life. Routine screening erroneously reported \u201cnormal\u201d TSH that caused delayed diagnosis of CH due to interference with the TSH assay from concurrent biotin use. Once the biotin treatment was withheld for 4 days and the thyroid function tests repeated, an elevated TSH became apparent. Treatment with tablet levothyroxine (L\u2010T4) was started and subsequently changed to L\u2010T4 oral solution (Tirosint\u00ae\u2010SOL) to overcome treatment administration difficulties encountered with the tablet form. This resulted in improved TSH control due to more accurate and consistent dosing compared with the tablet formulation. This is the first report of the use of L\u2010T4 oral solution in an infant with T21 and biotinidase deficiency.<\/jats:p>","DOI":"10.1155\/2020\/8883969","type":"journal-article","created":{"date-parts":[[2020,12,23]],"date-time":"2020-12-23T14:05:29Z","timestamp":1608732329000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4884-5515","authenticated-orcid":false,"given":"Matthew M.","family":"Feldt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,23]]},"reference":[{"key":"e_1_2_7_1_2","first-page":"6","article-title":"Gastrointestinal disorders in down syndrome","volume":"7","author":"Holmes G.","year":"2017","journal-title":"Gastroenterology and Hepatology from Bed to Bench"},{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1590\/1678-775720150102"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000457952"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/med.0000000000000382"},{"key":"e_1_2_7_5_2","first-page":"132","article-title":"Thyroid disorders in subjects with down syndrome: an update","volume":"89","author":"Amr N. H.","year":"2018","journal-title":"Acta Biomedica"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje-16-0858"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.6"},{"key":"e_1_2_7_8_2","unstructured":"U.S. Food & Drug Administration UPDATE: the FDA warns that biotin may interfere with lab tests: FDA safety communication 2019 http:\/\/www.fda.gov\/medical-devices\/safety-communications\/update-fda-warns-biotin-may-interfere-lab-tests-fda-safety-communication."},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.15761\/PD.1000160"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2016-0606"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2014.0028"},{"key":"e_1_2_7_12_2","unstructured":"U.S. Food & Drug Administration Website Tirosint\u00ae-SOL (levothyroxine sodium) oral solution 2016 https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2016\/206977s000lbl.pdf."},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000356047"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.11.070"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2004.17.7.967"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1891"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1053\/beem.2002.0202"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.09.003"},{"key":"e_1_2_7_19_2","unstructured":"National Institutes of Health Office of Dietary Supplements Biotin 2020 https:\/\/ods.od.nih.gov\/factsheets\/Biotin-HealthProfessional\/."},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1177\/0004563216642255"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329951"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-016-1035-1"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2020\/8883969.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2020\/8883969.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2020\/8883969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:57:01Z","timestamp":1762473421000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2020\/8883969"}},"subtitle":[],"editor":[{"given":"Wei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1155\/2020\/8883969"],"URL":"https:\/\/doi.org\/10.1155\/2020\/8883969","archive":["Portico"],"relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"type":"print","value":"2090-6501"},{"type":"electronic","value":"2090-651X"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"2020-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8883969"}}