{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:52:22Z","timestamp":1787017942180,"version":"build-2736575974"},"reference-count":37,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. Methods: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included. Results: Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13\/16 gonads) and bilateral OT-DSD (5\/8 cases). Conclusion: The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation.<\/jats:p>","DOI":"10.1159\/000526036","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T17:01:08Z","timestamp":1674147668000},"page":"242-251","source":"Crossref","is-referenced-by-count":5,"title":["Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review"],"prefix":"10.1159","volume":"16","author":[{"given":"Beatriz Amstalden","family":"Barros","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara Sanches","family":"Guaragna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Fabbri-Scallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricilda","family":"Palandi de Mello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a Trevas","family":"Maciel-Guerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,1,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104154"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.118"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw186"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.021"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jped.2019.04.007"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0202-7"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3169"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/js.2019-00241"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1590\/s0004-27302005000100009"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/4963574"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.21145"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1105-y"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1921676117"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23916"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000445088"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23116"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2017.01.037"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23672"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/BF02000779"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14389"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1242\/dev.107052"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0738"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1115"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1159\/000445983"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1000097"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36729"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017063"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0113"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.290"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.24.10939"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1159\/000452888"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1159\/000485868"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.237"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1754.2000.00432.x"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2003.10.096"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/sxd\/article-pdf\/16\/4\/242\/3900066\/000526036.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/sxd\/article-pdf\/16\/4\/242\/3900066\/000526036.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T11:11:58Z","timestamp":1745406718000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000526036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":37,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,2,10]]},"published-print":{"date-parts":[[2023,2,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000526036","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}