{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:59Z","timestamp":1792141379825,"version":"4.4.0"},"reference-count":78,"publisher":"S. Karger AG","issue":"2-3","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:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>The 5\u03b1-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by the &lt;i&gt;SRD5A2&lt;\/i&gt; gene, which maps to chromosome 2 (2p23), consists of 5 exons and 4 introns, and encodes a 254 amino acid protein. Disruptions in this gene are the molecular etiology of a subgroup of differences of sex development (DSD) in 46,XY patients. Affected individuals present a large range of external genitalia undervirilization, ranging from almost typically female external genitalia to predominantly typically male external genitalia with minimal undervirilization, including isolated micropenis. This is an updated review of the implication of the &lt;i&gt;SRD5A2&lt;\/i&gt; gene in 5\u03b1-reductase type 2 enzyme deficiency. For that, we identified 451 cases from 48 countries of this particular 46,XY DSD from the literature with reported variants in the &lt;i&gt;SRD5A2&lt;\/i&gt; gene. Herein, we present the &lt;i&gt;SRD5A2&lt;\/i&gt; mutational profile, the &lt;i&gt;SRD5A2&lt;\/i&gt; polymorphisms, and the functional studies related to &lt;i&gt;SRD5A2&lt;\/i&gt; variants to detail the molecular etiology of this condition. <\/jats:p>","DOI":"10.1159\/000525119","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T21:00:34Z","timestamp":1657141234000},"page":"171-183","source":"Crossref","is-referenced-by-count":45,"title":["The Molecular Basis of 5\u03b1-Reductase Type 2 Deficiency"],"prefix":"10.1159","volume":"16","author":[{"given":"Rafael L.","family":"Batista","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1762-1084","authenticated-orcid":false,"given":"Berenice B.","family":"Mendonca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,7,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-018-0940-y"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2015.69"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410x.2000.00354.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.73.866.802"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-018-1767-1"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/354159a0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000454974"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.2014\/JCPSP.714718"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/530121"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.107.002592"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S198178"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0930"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.83.2.4535"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12799"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324727"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-7-191"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2782"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2014.2621"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.22034\/APJCP.2017.18.1.93"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.breast.2013.11.010"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005326027087"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/endo-126-2-1165"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2015.07.012"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-005-0651-7"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1186\/s12610-017-0065-8"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1186\/s13100-016-0065-9"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/and.13847"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-11-152"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.81.8.8768837"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-0621-8_8"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/s0303-7207(02)00368-4"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4170.1213"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1991.tb03769.x"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115574"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.01.121"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2019.01.017"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.80.11.7593420"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199704033361404"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1510092"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-012-2434-x"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1093\/mutage\/geq103"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2018.05.003"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1097\/00008571-200007000-00004"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.04.013"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2003.01763.x"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199603000-00003"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.05.020"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.80.11.7593415"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2002.15.4.411"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-015-0633-1"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.2014.254"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2008.09.012"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn145"},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.63.070194.000325"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2011.02.043"},{"key":"ref56","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2014.11.003"},{"key":"ref57","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021415"},{"key":"ref58","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2019.105439"},{"key":"ref59","doi-asserted-by":"publisher","DOI":"10.1016\/j.steroids.2013.08.010"},{"key":"ref60","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12108"},{"key":"ref61","doi-asserted-by":"publisher","DOI":"10.1097\/00005392-199909000-00064"},{"key":"ref62","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1%3c223::AID-AJMG39%3e3.0.CO;2-O"},{"key":"ref63","doi-asserted-by":"publisher","DOI":"10.1691\/ph.2019.8768"},{"key":"ref64","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23608"},{"key":"ref65","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115954"},{"key":"ref66","doi-asserted-by":"publisher","DOI":"10.1042\/BST20130157"},{"key":"ref67","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1395"},{"key":"ref68","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.00941.x"},{"key":"ref69","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0274-2"},{"key":"ref70","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.109.009407"},{"key":"ref71","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2015.07.013"},{"key":"ref72","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197410312911806"},{"key":"ref73","doi-asserted-by":"publisher","DOI":"10.1159\/000313372"},{"key":"ref74","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2164"},{"key":"ref75","doi-asserted-by":"publisher","DOI":"10.1021\/bi00171a029"},{"key":"ref76","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-14-5-577"},{"key":"ref77","doi-asserted-by":"publisher","DOI":"10.1159\/000324692"},{"key":"ref78","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12456"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525119","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:00:59Z","timestamp":1745420459000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":78,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2022,11,3]]},"published-print":{"date-parts":[[2022,11,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000525119","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]]}}}