{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:10:53Z","timestamp":1790619053266,"version":"4.1.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002759","name":"International Fund for Congenital Adrenal Hyperplasia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002759","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001962","name":"French Anti-Doping Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001962","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Association Surr\u00e9nales"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>A major limitation of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is the lack of specificity of the fluoroimmunoassay (FIA) currently used for 17-hydroxyprogesterone (17OHP) determination. This issue is more pronounced in newborns, due to elevated levels of interfering compounds. Fluoroimmunoassay at our NBS centre in Ile-de-France has a false-positive rate of around 80% and a predictive positive value of 16% for first- and second-tier measurements from dried blood spots. Recently, tandem mass spectrometry (LC-MS\/MS) has gained international recognition as a complementary tool to FIA testing. Currently, the most frequently used biomarkers are 17OHP and 21-deoxycortisol, used either alone or in combination with steroid ratios such as cortisol or 4-androstenedione. Concurrently, the class of 11-oxygenate-androgens\u2014such as 11-ketotestosterone\u2014and more recently 11-oxygenate pregnanes\u2014such as 21-deoxycortisone\u2014has attracted growing interest in the diagnosis of 21-hydroxylase deficiency. These derivatives result from the combined action of 11-beta hydroxysteroid dehydrogenase and 11-beta hydroxylase.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We propose a revisited LC-MS\/MS steroid profile, enriched with these classes of biomarkers, to be included in the CAH NBS algorithm. This combination could be used as a multi-steroid approach implemented using a machine learning model.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our preliminary results suggest that these oxygenated androgen\/pregnane steroids are significantly discriminative to streamline the NBS process for CAH. We have demonstrated this in 2 different NBS centres, in the greater Paris region and in Brittany, France.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This new algorithm could have an important impact on reducing the number of recall and family stress related to NBS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf208","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T12:10:05Z","timestamp":1759925405000},"page":"677-686","source":"Crossref","is-referenced-by-count":6,"title":["Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers"],"prefix":"10.1093","volume":"193","author":[{"given":"Coumba","family":"Sow","sequence":"first","affiliation":[{"name":"D\u00e9partement de M\u00e9tabolomique Clinique, H\u00f4pital Saint-Antoine, 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