{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T18:12:36Z","timestamp":1788372756758,"version":"build-2803163510"},"reference-count":45,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23ek0109630h0001"],"award-info":[{"award-number":["23ek0109630h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Newborn screening (NBS) for 21-hydroxylase deficiency (21OHD) has historically shown high false-positive (FP) rates, especially in low-birth-weight (LBW) infants. In 2022, we proposed a second-tier liquid chromatography\u2013tandem mass spectrometry (LC-MS\/MS)\u2013based algorithm to improve screening specificity; however, its real-world performance remains unassessed prospectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This work aimed to prospectively evaluate our LC-MS\/MS\u2013based screening algorithm for 21OHD and develop a refined version addressing newly identified clinical limitations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We prospectively analyzed 326 006 newborns screened in Tokyo from 2021 to 2025. Based on the findings, a revised algorithm was retrospectively validated in 946 246 newborns screened between 2015 and 2025.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The original algorithm showed 100% sensitivity but lower-than-expected positive predictive values (PPVs) (9.0% for initial positives; 44.8% for final referrals). This was mainly due to FPs in LBW infants, who made up 75.7% of initial positives despite being unaffected. Steroid profiling showed elevated 21-deoxycortisol (21DOC) in all true positives but undetectable levels in 99.2% of LBW FPs. A refined algorithm prioritized a low 21DOC cutoff as the primary exclusion criterion, with the 11-deoxycortisol to 17\u03b1-hydroxyprogesterone (11DOC\/17OHP) ratio as a secondary safeguard. This revision reduced LBW-related recalls by more than 99% and raised PPVs to 87.2% for initial positives and 89.1% for final referrals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This large-scale prospective study showed that a refined LC-MS\/MS algorithm using 21DOC and 11DOC\/17OHP greatly improved 21OHD screening specificity, eliminating LBW-related FPs and enhancing NBS efficiency.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf506","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T11:25:51Z","timestamp":1757330751000},"page":"689-697","source":"Crossref","is-referenced-by-count":2,"title":["Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5434-3664","authenticated-orcid":false,"given":"Haruki","family":"Yamano","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , Tokyo ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minami","family":"Komatsu","sequence":"additional","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , Tokyo ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , 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Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5260-7571","authenticated-orcid":false,"given":"Eriko","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0318-5472","authenticated-orcid":false,"given":"Gau","family":"Maki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8502-222X","authenticated-orcid":false,"given":"Hisae","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8226-2618","authenticated-orcid":false,"given":"Atsumi","family":"Tsuji-Hosokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine , Bunkyo-ku, Tokyo 113-8510 ,","place":["Japan"]},{"name":"Division of Endocrinology and Metabolism, National Center for Child Health and Development (NCCHD) , Setagaya-ku, Tokyo 157-8535 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