{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T03:30:06Z","timestamp":1774668606908,"version":"3.50.1"},"reference-count":29,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003708","name":"Korea Institute of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003708","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Technology Institutional Program","award":["2E31093"],"award-info":[{"award-number":["2E31093"]}]},{"DOI":"10.13039\/501100003653","name":"Korea Health Technology","doi-asserted-by":"publisher","award":["HI21C0032"],"award-info":[{"award-number":["HI21C0032"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008903","name":"Ministry of Health and Welfare of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008903","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Altered metabolic signatures on steroidogenesis may characterize individual subtypes of congenital adrenal hyperplasia (CAH), but conventional diagnostic approaches are limited to differentiate subtypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We explored metabolic characterizations and identified multiple diagnostic biomarkers specific to individual subtypes of CAH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Liquid chromatography-mass spectrometry-based profiling of 33 adrenal steroids was developed and applied to serum samples obtained from 67 CAH patients and 38 healthy volunteers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Within- and between-run precisions were 95.4% to 108.3% and 94.1% to 110.0%, respectively, while all accuracies were &amp;lt;12% and the correlation coefficients (r2) were &amp;gt; 0.910. Metabolic ratios corresponding to 21-hydroxylase characterized 21-hydroxylase deficiency (21-OHD; n = 63) from healthy controls (area under the curve = 1.0, P &amp;lt; 1 \u00d7 10\u221218 for all) and other patients with CAH in addition to significantly increased serum 17\u03b1-hydroxyprogesterone (P &amp;lt; 1 \u00d7 10\u221216) and 21-deoxycortisol (P &amp;lt; 1 \u00d7 10\u221215) levels. Higher levels of mineralocorticoids, such as corticosterone (B) and 18-hydroxyB, were observed in 17\u03b1-hydroxylase deficiency (17\u03b1-OHD; N = 3), while metabolic ratio of dehydroepiandrosterone sulfate to pregnenolone sulfate was remarkably decreased against all subjects. A patient with 11\u03b2-hydroxylase deficiency (11\u03b2-OHD) demonstrated significantly elevated 11-deoxycortisol and its metabolite tetrahydroxy-11-deoxyF, with reduced metabolic ratios of 11\u03b2-hydroxytestosterone\/testosterone and 11\u03b2-hydroxyandrostenedione\/androstenedione. The steroid profiles resulted in significantly decreased cortisol metabolism in both 21-OHD and 17\u03b1-OHD but not in 11\u03b2-OHD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The metabolic signatures with specific steroids and their corresponding metabolic ratios may reveal individual CAH subtypes. Further investigations with more substantial sample sizes should be explored to enhance the clinical validity.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvad155","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T13:50:07Z","timestamp":1703080207000},"source":"Crossref","is-referenced-by-count":5,"title":["Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia"],"prefix":"10.1210","volume":"8","author":[{"given":"Jaeyoon","family":"Shim","sequence":"first","affiliation":[{"name":"Center for Advanced Biomolecular Recognition, Korea Institute of Science and Technology , Seoul 02792 , Korea"},{"name":"Department of Chemistry, Korea University , Seoul 02841 , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang Ho","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Seoul National University Bundang Hospital , Gyeonggi-do 13620 , Korea"},{"name":"Department of Internal Medicine, Seoul National University College of Medicine , Seoul 03080 , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Shin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Seoul National University College of Medicine , Seoul 03080 , Korea"},{"name":"Department of Internal Medicine, Seoul National University Hospital , Seoul 03080 , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jongsung","family":"Noh","sequence":"additional","affiliation":[{"name":"Center for Advanced Biomolecular Recognition, Korea Institute of Science and Technology , Seoul 02792 , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaelin","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Advanced Biomolecular Recognition, Korea Institute of Science and Technology , Seoul 02792 , 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