{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:19:10Z","timestamp":1790745550417,"version":"4.1.0"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"DIM \u201cTh\u00e9rapie G\u00e9nique\u201d"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective, Design, and Methods<\/jats:title>\n                  <jats:p>Although 17-hydroxyprogesterone (17OHP) has historically been the steroid assayed in the diagnosis of congenital adrenal 21-hydroxylase deficiency (CAH-21D), its C11-hydroxylated metabolite, 21-deoxycortisol (21DF), which is strictly of adrenal origin, is assayed in parallel in this pathology. This steroid (21DF) is oxidized by 11beta-hydroxysteroid dehydrogenase type 2 into 21-deoxycortisone (21DE). In the context of CAH-21D confirmation testing, confounding factors (such as intensive care unit admission, stress, prematurity, early sampling, and variations of sex development) can interfere with the interpretation of the gold-standard biomarkers (17OHP and 21DF). Since its tissue concentrations are especially high in the placenta, we hypothesized that 21DE quantification in the neonatal periods could be an interesting biomarker in addition to 17OHP and 21DF. To verify this hypothesis, we developed a new mass spectrometry-based assay for 21DE in serum and applied it to newborns screened for CAH-21D.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In newborns with CAH-21D, the mean serum levels of 21DE reached 17.56\u2005ng\/mL (ranging from 8.58\u2005ng\/mL to 23.20\u2005ng\/mL), and the mean 21DE:21DF ratio was 4.99. In contrast, in newborns without CAH-21D, the 21DE serum levels were low and not statistically different from the analytical 21DE limit of quantification (0.01\u2005ng\/mL).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Basal serum 21DE appears to be a novel sensitive and specific biomarker of CAH-21D in newborns.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvae062","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T18:26:54Z","timestamp":1723573614000},"page":"204-210","source":"Crossref","is-referenced-by-count":6,"title":["Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns"],"prefix":"10.1093","volume":"191","author":[{"given":"Jean","family":"Fiet","sequence":"first","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4175-4816","authenticated-orcid":false,"given":"Guillaume","family":"Bachelot","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"},{"name":"Sorbonne Universit\u00e9, Saint Antoine Research Center, INSERM UMR 938 , 75012 Paris , France"},{"name":"Service de Biologie de La Reproduction-CECOS, H\u00f4pital Tenon, AP-HP.Sorbonne Universit\u00e9 , 75020 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coumba","family":"Sow","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Farabos","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Helin","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thibaut","family":"Eguether","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"},{"name":"Sorbonne Universit\u00e9, Saint Antoine Research Center, INSERM UMR 938 , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Noelle","family":"Dufourg","sequence":"additional","affiliation":[{"name":"Explorations Fonctionnelles Endocriniennes, H\u00f4pital Armand Trousseau, AP-HP , 26 Av Dr Netter, Paris 75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bellanne-Chantelot","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Ribaut","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bachelot","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Service d\u2019endocrinologie et m\u00e9decine de la reproduction, IE3M, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Young","sequence":"additional","affiliation":[{"name":"University Paris-Saclay , Paris-Sud Medical School, F-91405 Orsay , France"},{"name":"Department of Reproductive Endocrinology, Assistance Publique-H\u00f4pitaux de Paris, Bic\u00eatre Hospital , F-94275 Le Kremlin-Bic\u00eatre , France"},{"name":"INSERM UMR-S 1185, Paris-Saclay University , Le Kremlin Bic\u00eatre F-94276 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Houang","sequence":"additional","affiliation":[{"name":"Explorations Fonctionnelles Endocriniennes, H\u00f4pital Armand Trousseau, AP-HP , 26 Av Dr Netter, Paris 75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0813-7370","authenticated-orcid":false,"given":"Antonin","family":"Lamazi\u00e8re","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint Antoine, AP-HP.Sorbonne Universit\u00e9 , 27 Rue Chaligny, 75012 Paris , France"},{"name":"Sorbonne Universit\u00e9, Saint Antoine Research Center, INSERM UMR 938 , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,8,13]]},"reference":[{"issue":"2","key":"2024082910344315500_lvae062-B1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/0022-4731(84)90382-0","article-title":"Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase 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Characterization, using GC\u2013MS and GC\u2013MS\/MS, of 11oxo-pregnanes and 11oxo-pregnenes","volume":"78","author":"Christakoudi","year":"2013","journal-title":"Steroids"},{"issue":"2","key":"2024082910344315500_lvae062-B19","doi-asserted-by":"crossref","first-page":"e31949","DOI":"10.1371\/journal.pone.0031949","article-title":"Lack of renal 11 beta-hydroxysteroid dehydrogenase type 2 at birth, a targeted temporal window for neonatal glucocorticoid action in human and mice","volume":"7","author":"Martinerie","year":"2012","journal-title":"PLoS One"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/191\/2\/204\/58814760\/lvae062.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/191\/2\/204\/58814760\/lvae062.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T12:29:33Z","timestamp":1724934573000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/191\/2\/204\/7732807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,8,5]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvae062","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,8]]}}}