{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:34:17Z","timestamp":1790627657160,"version":"4.1.0"},"reference-count":52,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T00:00:00Z","timestamp":1651708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Science Foundation of China","doi-asserted-by":"publisher","award":["81570702"],"award-info":[{"award-number":["81570702"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Science Foundation of China","doi-asserted-by":"publisher","award":["81621061"],"award-info":[{"award-number":["81621061"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC0901503"],"award-info":[{"award-number":["2016YFC0901503"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Measurement of plasma steroids is necessary for diagnosis of congenital adrenal hyperplasia (CAH). We sought to establish an efficient strategy for detection and subtyping of CAH with a machine-learning algorithm.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical phenotype and genetic testing were used to provide CAH diagnosis and subtype. We profiled 13 major steroid hormones by liquid chromatography-tandem mass spectrometry. A multiclassifier system was established to distinguish 11\u03b2-hydroxylase deficiency (11\u03b2OHD), 17\u03b1-hydroxylase\/17,20-lyase deficiency (17OHD), and 21\u03b1-hydroxylase deficiency (21OHD) in a discovery cohort (n\u2005=\u2005226). It was then validated in an independent cohort (n\u2005=\u2005111) and finally applied in a perspective cohort of 256 patients. The diagnostic performance on the basis of area under receiver operating characteristic curves (AUCs) was evaluated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A cascade logistic regression model, we named the \u201cSteroidogenesis Score\u201d, was able to discriminate the 3 most common CAH subtypes: 11\u03b2OHD, 17OHD, and 21OHD. In the perspective application cohort, the steroidogenesis score had a high diagnostic accuracy for all 3 subtypes, 11\u03b2OHD (AUC, 0.994; 95% CI, 0.983-1.000), 17OHD (AUC, 0.993; 95% CI, 0.985-1.000), and 21OHD (AUC, 0.979; 95% CI, 0.964-0.994). For nonclassic 21OHD patients, the tool presented with significantly higher sensitivity compared with measurement of basal 17\u03b1-hydroxyprogesterone (17OHP) (0.973 vs 0.840, P\u2005=\u20050.005) and was not inferior to measurement of basal vs stimulated 17OHP (0.973 vs 0.947, P\u2005=\u20050.681).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The steroidogenesis score was biochemically interpretable and showed high accuracy in identifying CAH patients, especially for nonclassic 21OHD patients, thus offering a standardized approach to diagnose and subtype CAH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgac271","type":"journal-article","created":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T21:51:08Z","timestamp":1651787468000},"page":"e3304-e3312","source":"Crossref","is-referenced-by-count":8,"title":["A Multiclassifier System to Identify and Subtype 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