{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:22Z","timestamp":1772160082561,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T00:00:00Z","timestamp":1758412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T00:00:00Z","timestamp":1758412800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100012542","name":"Sichuan Provincial Science and Technology Support Program","doi-asserted-by":"publisher","award":["2022JDZH0029"],"award-info":[{"award-number":["2022JDZH0029"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This study investigated genetic causes of 46, XY DSD in 134 Chinese patients via whole\u2010exome sequencing (WES). Clinical data analysis identified 86 rare variants (14 novel, 72 recurrent) across 46, XY DSD\u2010related genes. Following ACMG guidelines, 71 variants were classified as pathogenic\/likely pathogenic (P\/LP). Affected genes were linked to androgen production\/function (63 variants), testicular development (19), and syndromic forms (4).\n                    <jats:italic>SRD5A2<\/jats:italic>\n                    ,\n                    <jats:italic>AR<\/jats:italic>\n                    , and\n                    <jats:italic>NR5A1<\/jats:italic>\n                    emerged as the most frequent causative genes, accounting for ~90% of cases. Novel variants in 11 genes expanded the genetic spectrum, offering insights into underlying mechanisms and improving diagnostic precision. These findings enhance understanding of 46, XY DSD pathogenesis and underscore WES's utility in resolving diagnostic challenges for improved clinical management.\n                  <\/jats:p>","DOI":"10.1111\/cge.70068","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T05:15:02Z","timestamp":1758518102000},"page":"490-506","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Etiology of 46,\n                    <scp>XY<\/scp>\n                    Disorders of Sex Development in Chinese Patients: Insights From Whole\u2010Exome Sequencing"],"prefix":"10.1111","volume":"109","author":[{"given":"Hui","family":"Jing","sequence":"first","affiliation":[{"name":"College of Medical Technology Chengdu University of Traditional Chinese Medicine  Chengdu China"},{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine University of Electronic Science and Technology of China  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zixuan","family":"Wang","sequence":"additional","affiliation":[{"name":"College of Medical Technology Chengdu University of Traditional Chinese Medicine  Chengdu China"},{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine University of Electronic Science and Technology of China  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunman","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhan","family":"Chen","sequence":"additional","affiliation":[{"name":"College of Medical Technology Chengdu University of Traditional Chinese Medicine  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3945-9325","authenticated-orcid":false,"given":"Li","family":"Cao","sequence":"additional","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology  Chengdu China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences &amp; 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