{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T09:30:39Z","timestamp":1793784639414,"version":"4.6.1"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":71,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Reprod Medicine &amp;amp; Biology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>This study aimed to evaluate the utility of long\u2010read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic diagnosis and support genetic counseling and reproductive management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 722 infertile men underwent next\u2010generation sequencing (NGS) panel testing. LRS was subsequently applied to characterize variants of CAH and ADPKD. Semen parameters, serum sex hormone levels, and assisted reproductive outcomes were further analyzed in males carrying the relevant variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Definitive genetic diagnoses were established in 3.3% (24\/722) of men by NGS panel. LRS directly determined the trans configurations of two\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      variants in a subject with azoospermia. Eighty\u2010seven infertile men with ADPKD\u2010related variants were identified, including 7 subjects carrying pathogenic variants. About 96.6% of subjects had no familial history of PKD, and 85.0% of subjects had abnormal results of semen analysis. Overall, LRS added 33.3% diagnostic yield above for infertile men.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The application of CAH and ADPKD analysis based on LRS extends conventional genetic testing for male infertility by enabling accurate evaluation of complex genomic regions, thereby improving diagnostic clarity and informing reproductive decision\u2010making and clinical management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/rmb2.70038","type":"journal-article","created":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T05:51:46Z","timestamp":1773467506000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Long\u2010Read Sequencing of\n                    <scp>CAH<\/scp>\n                    and\n                    <scp>ADPKD<\/scp>\n                    Provides Novel Insights Into the Genetic Diagnosis of Male Infertility"],"prefix":"10.1002","volume":"25","author":[{"given":"Xiao","family":"Li","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang","family":"Liu","sequence":"additional","affiliation":[{"name":"Berry Genomics Corporation  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianlong","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaolong","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5194-1472","authenticated-orcid":false,"given":"Feifei","family":"Cai","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoming","family":"Lu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine Institute of Women, Children and Reproductive Health, Shandong University  Jinan Shandong China"},{"name":"Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-024-00773-3"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)32667-2"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa101"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2013.10.006"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)66736-0"},{"key":"e_1_2_12_7_1","article-title":"Autosomal Dominant Polycystic Kidney Disease","volume":"352","author":"Simms R. 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