{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:05:49Z","timestamp":1780502749820,"version":"3.54.1"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>In the Netherlands, after an abnormal newborn screening (NBS) result suggestive of central congenital hypothyroidism (CH), children are referred for confirmatory plasma-free thyroxine (fT4) measurement. Correct interpretation of these results relies on appropriate age- and assay-specific reference intervals (RI), which are often not available. The current study was performed to check whether the use of adult or other incorrect fT4 RIs during the post-screening work-up of neonates with an abnormal NBS had led to missed diagnoses of central CH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Retrospective cohort study with prospective re-evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Children born between 1 March 2018 and 1 April 2021 with an abnormal NBS result suggesting central CH were identified through the Dutch national screening registry (NEORAH). Children classified as having a \u201cfalse positive\u201d screening result based on post-screening confirmatory fT4 concentrations in the neonatal period were included if those fT4 concentrations were \u2264 3\u2005pmol\/L above the assay-specific lower limit of the adult RI. After obtaining informed consent, re-evaluation of thyroid function was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Six children were identified and informed consent was obtained from four participants. Two out of four participants received a new diagnosis of central CH, including one case of multiple pituitary hormone deficiencies (MPHD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study highlights the critical need for age- and assay-specific RIs for plasma fT4 to accurately diagnose central CH in the neonatal period.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvag090","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T11:41:43Z","timestamp":1779968503000},"page":"778-785","source":"Crossref","is-referenced-by-count":0,"title":["Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidism"],"prefix":"10.1093","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3857-5411","authenticated-orcid":false,"given":"Mark R","family":"Garrelfs","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, European Reference Network on Rare Endocrine Conditions (Endo-ERN), University of Amsterdam and Vrije Universiteit , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]},{"name":"Amsterdam Gastroenterology Endocrinology Metabolism , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1174-7340","authenticated-orcid":false,"given":"Peter","family":"Lauffer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, European Reference Network on Rare Endocrine Conditions (Endo-ERN), University of Amsterdam and Vrije Universiteit , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]},{"name":"Amsterdam Gastroenterology Endocrinology Metabolism , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]},{"name":"Department of Clinical Genetics, Amsterdam UMC, Location University of Amsterdam , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1161-0301","authenticated-orcid":false,"given":"Jacquelien J","family":"Hillebrand","sequence":"additional","affiliation":[{"name":"Amsterdam Gastroenterology Endocrinology Metabolism , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The Netherlands"]},{"name":"Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, Location University of Amsterdam and Vrije Universiteit , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["The 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