{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:24:33Z","timestamp":1777875873045,"version":"3.51.4"},"reference-count":4,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"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":[[2022,4]]},"abstract":"<jats:p>\n                    Pathogenic variants in\n                    <jats:italic toggle=\"yes\">TSHB<\/jats:italic>\n                    are known to cause severe isolated central congenital hypothyroidism (CH). In this study, we present the clinical, biochemical, and genetic features of the first patient with a mild central CH phenotype. We identified a novel homozygous variant in\n                    <jats:italic toggle=\"yes\">TSHB<\/jats:italic>\n                    : (Chr1: NM_000549.5):c.290A&gt;G p.(Tyr97Cys) in a newborn girl detected by neonatal CH screening, whose central CH was initially overlooked because of misinterpretation of her plasma-free thyroxine (fT4) concentration. This report adds to the phenotypic spectrum of\n                    <jats:italic toggle=\"yes\">TSHB<\/jats:italic>\n                    variants and underlines the importance of using age-specific fT4 reference intervals to diagnose central CH.\n                  <\/jats:p>","DOI":"10.1089\/thy.2021.0651","type":"journal-article","created":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T05:38:01Z","timestamp":1643693881000},"page":"472-474","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in\n                    <i>TSHB<\/i>\n                    : A Case Report"],"prefix":"10.1177","volume":"32","author":[{"given":"Peter","family":"Lauffer","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hennie","family":"Bikker","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; University of Amsterdam, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Boelen","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasper J.","family":"J\u00f6bsis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, OLVG Hospital, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. S. Paul","family":"van Trotsenburg","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitash","family":"Zwaveling-Soonawala","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,4,11]]},"reference":[{"key":"e_1_3_7_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.686317"},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2019.0779"},{"key":"e_1_3_7_4_2","first-page":"1600","article-title":"Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene","volume":"86","author":"Bonomi M","year":"2001","unstructured":"Bonomi M, , Proverbio MC, , Weber G, , Chiumello G, , Beck-Peccoz P, , Persani L. 2001. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. J Clin Endocrinol Metab, 86:1600\u20131604.","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/4.4.525"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2021.0651","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0651","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:09:01Z","timestamp":1777586941000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2021.0651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1089\/thy.2021.0651"],"URL":"https:\/\/doi.org\/10.1089\/thy.2021.0651","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}