{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:34:10Z","timestamp":1783488850309,"version":"3.55.0"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2013]]},"abstract":"<b><i>Background:<\/i><\/b> Individuals with <i>NR5A1<\/i> mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that hypoplastic seminiferous tubules and the emergence of Leydig cells with vacuolar cytoplasms are seen predominantly in the majority of individuals with <i>NR5A1<\/i> mutations. <b><i>Aim:<\/i><\/b> The aim of this study was to address whether the histopathological characteristics of the testis can be a biomarker for 46,XY individuals with <i>NR5A1<\/i> mutations. <b><i>Design:<\/i><\/b> In order to ascertain whether or not the histological features were the characteristics of <i>NR5A1<\/i> mutations, we screened the testicular histology of 242 patients with 46,XY DSD and then subsequently assessed <i>NR5A1<\/i> mutations. <b><i>Result:<\/i><\/b> Of 242 patients with 46,XY DSD, 6 patients matched histological testicular features: a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets. All 6 patients had <i>NR5A1<\/i> mutations. These histological features were distinct from those of other DSD. Thus, this unique testicular histology is useful for identifying <i>NR5A1<\/i> mutations in 46,XY patients with DSD before puberty.<\/jats:p>","DOI":"10.1159\/000353763","type":"journal-article","created":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T09:59:09Z","timestamp":1377511149000},"page":"119-128","source":"Crossref","is-referenced-by-count":15,"title":["Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients"],"prefix":"10.1159","volume":"80","author":[{"given":"Noriko","family":"Nishina-Uchida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuji","family":"Fukuzawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikahiko","family":"Numakura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayuko S.","family":"Suwanai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2013,8,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000277141"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00340942"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107621"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000200077"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/me.11.2.117"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000152036"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/er.18.3.361"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(200003)217:3<293::AID-DVDY7>3.0.CO;2-P"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.11.006"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3169"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.009"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1672"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0024"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0670"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0113"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159\/000320029"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20588"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000338346"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dem278"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1677\/jme.0.0170139"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12054"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0392"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612193352503"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1021\/bi00039a004"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1210\/me.14.9.1462"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/353763","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/353763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:24Z","timestamp":1745433564000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000353763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,9,1]]},"published-print":{"date-parts":[[2013,9,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000353763","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}