{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T18:12:41Z","timestamp":1788372761077,"version":"build-2803163510"},"reference-count":43,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan","award":["20FC1020"],"award-info":[{"award-number":["20FC1020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by liquid chromatography\u2013tandem mass spectrometry (LC-MS\/MS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aimed to define an algorithm for newborn screening of 21OHD by LC-MS\/MS, measuring a total of 2077 dried blood spot samples in Tokyo.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Five steroids (17\u03b1-hydroxyprogesterone [17\u03b1OHP], 21-deoxycortisol [21DOF], 11-deoxycortisol [11DOF], androstenedione [4AD], and cortisol [F]) were included in the panel of LC-MS\/MS. Samples from 2 cohorts were assayed: Cohort A, 63 \u201cscreening positive\u201d neonates who were referred to an endocrinologist (n = 26 with 21OHD; n = 37 false-positive; obtained from 2015 to 2020); and Cohort B, samples (n = 2014) with 17\u03b1OHP values in the 97th percentile or above, in the first-tier test with 17\u03b1OHP ELISA from 2020 to 2021.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Analysis of Cohort A revealed that the 3 indexes 21DOF, 11DOF\/17\u03b1OHP, and (4AD + 17\u03b1OHP)\/F had higher area under the curve (AUC) values (0.999, 0.997, 0.989, respectively), while the 17\u03b1OHP AUC was lower (0.970). Accordingly, in addition to 17\u03b1OHP, the 3 markers were included for defining the screening algorithm. The assay of Cohort B revealed that the new algorithm gave 92% of predicted positive predictive value without false-negative cases. We also determined the reference values for the 5 steroids at 4 to 7 days after birth, according to sex and gestational age (GA), revealing extremely low levels of 21DOF at any GA irrespective of sex differences.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our study demonstrated the high relevance of 21DOF, (4AD + 17\u03b1OHP)\/F, and 11DOF\/17\u03b1OHP, rather than 17\u03b1OHP, for 21OHD screening.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgac521","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T03:28:46Z","timestamp":1662607726000},"page":"3341-3352","source":"Crossref","is-referenced-by-count":14,"title":["The High Relevance of 21-Deoxycortisol, (Androstenedione + 17\u03b1-Hydroxyprogesterone)\/Cortisol, and 11-Deoxycortisol\/17\u03b1-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency"],"prefix":"10.1210","volume":"107","author":[{"given":"Kazuhiro","family":"Watanabe","sequence":"first","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , Tokyo , 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, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8510 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Konishi","sequence":"additional","affiliation":[{"name":"Tokyo Health Service Association, Newborn Screening , Tokyo , 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