{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T06:58:19Z","timestamp":1787986699012,"version":"build-2784847793"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,6,14]],"date-time":"2025-06-14T00:00:00Z","timestamp":1749859200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100010381","name":"European Society for Pediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["ID IZSEZ0 211810"],"award-info":[{"award-number":["ID IZSEZ0 211810"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"KNAW Ter Meulen"},{"name":"KNAW Medical Sciences Fund"},{"name":"Royal Netherlands Academy of Arts & Sciences"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Treatment monitoring of individuals with congenital adrenal hyperplasia (CAH) remains unsatisfactory. Comprehensive 24\u2005h urine steroid profiling provides detailed insight into adrenal steroid pathways. We investigated whether 24\u2005h urine steroid profiling can predict treatment control in children and adolescents with CAH using machine learning (ML).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Prospective observational cohort study<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This study included children with 21-hydroxylase deficiency. On 24\u2005h urines of 2 consecutive visits 40 steroids were measured by gas chromatography\u2013mass spectrometry. Treatment outcome was clinically classified as undertreated, optimally treated or overtreated. We used sparse partial least squares discriminant analysis (sPLS-DA) to investigate prediction of treatment outcome. We computed area under the ROC-curve (AUC) of 2 sPLS-DA models: (1) using only 24\u2005h urine metabolites and (2) adding clinical variables.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We included 112 visits (68 optimal, 44 undertreatment) from 59 patients: 27 (46%) girls, 46 (78%) classic CAH, and 19 (32%) prepubertal. Mean age at first visit was 11.9 \u00b1 4.0 years and mean BMI SDS 0.6 \u00b1 1.1. SPLS-DA using 24\u2005h urine metabolites showed clear clustering of optimally treated patients on 2 components, while undertreated patients were more heterogeneous (AUC 0.88). The model selected pregnanetriol and 17\u03b1-hydroxypregnanolone contributing to excluding optimal treatment and 5 metabolites contributing to excluding undertreatment: 17\u03b2-estradiol, cortisone, tetrahydroaldosterone, androstenetriol, and etiocholanolone. Addition of clinical variables marginally improved classification (AUC 0.90).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Using ML on 24\u2005h urine steroid profiling predicted treatment outcome in children with CAH, even in the absence of clinical data, suggesting that routine comprehensive 24\u2005h urine steroid profiling could improve treatment monitoring in CAH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf121","type":"journal-article","created":{"date-parts":[[2025,6,14]],"date-time":"2025-06-14T11:40:01Z","timestamp":1749901201000},"page":"10-20","source":"Crossref","is-referenced-by-count":3,"title":["Predicting treatment outcome in congenital adrenal hyperplasia using urine steroidomics and machine learning"],"prefix":"10.1093","volume":"193","author":[{"given":"Ozair","family":"Abawi","sequence":"first","affiliation":[{"name":"Division of Pediatric 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Leiden University Medical Center , Leiden 2333 ZA ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Charmandari","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, \u2018Aghia Sophia\u2019 Children's Hospital, Athens and Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens , Athens 11527 ,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica L T","family":"van den Akker","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam , Rotterdam 3000 CA ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander B","family":"Leichtle","sequence":"additional","affiliation":[{"name":"Laboratory Medicine, Department of Internal Medicine, Cantonal Hospital Baden , Baden 5404 ,","place":["Switzerland"]},{"name":"Center of Artificial Intelligence in Medicine (CAIM), University of Bern , Bern 3010 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4568-5504","authenticated-orcid":false,"given":"Christa E","family":"Fl\u00fcck","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern, University Hospital Inselspital, University of Bern , Freiburgstrasse 15\/C845, Bern 3010 ,","place":["Switzerland"]},{"name":"Department of Biomedical Research, University Hospital Inselspital, University of Bern , Bern 3010 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