{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:36:57Z","timestamp":1745469417671,"version":"3.40.4"},"reference-count":24,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,8,12]],"date-time":"2010-08-12T00:00:00Z","timestamp":1281571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,8,12]],"date-time":"2010-08-12T00:00:00Z","timestamp":1281571200000},"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":[[2011]]},"abstract":"<i>Background:<\/i> The potential involvement of <i>SRY<\/i> in abnormal gonadal development in 45,X\/46,X,der(Y) patients was proposed following the identification of <i>SRY<\/i> mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. <i>Aims:<\/i> It was the aim of this study to screen for allelic variation in<i> SRY<\/i> in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45,X\/46,X,der(Y) karyotype. <i>Patients:<\/i> Twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45,X\/46,X,der(Y) karyotypes were selected. <i>Methods:<\/i> Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The <i>SRY<\/i> coding region was PCR amplified and sequenced. <i>Results:<\/i> We identified only 1 polymorphism (c.561C\u2192T) in a 45,X\/46,XY MGD patient, which was detected in blood and in gonadal tissue. <i>Conclusion:<\/i> Our results indicate that mutations in <i>SRY<\/i> are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated <i>SRY<\/i> in the etiology of gonadal dysgenesis in patients harboring 45,X\/46,XY karyotype and variants seems very unlikely.<\/jats:p>","DOI":"10.1159\/000316536","type":"journal-article","created":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T09:09:14Z","timestamp":1288602554000},"page":"26-31","source":"Crossref","is-referenced-by-count":5,"title":["The Role of <i>SRY<\/i> Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X\/46,XY Disorder of Sex Development and Variants"],"prefix":"10.1159","volume":"75","author":[{"given":"Mirian Yumie","family":"Nishi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine Maria Frade","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suely Beir\u00e3o","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice Bilharinho","family":"Mendonca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,8,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2897%2981365-9"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320530204"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1997.tb02434.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-1809.1998.6220099.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320570305"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1998.tb02691.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2F0140-6736%2893%2991345-M"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10168"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.13.3.242"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.38.11.e41"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291098-1004%281997%299%3A5%3C388%3A%3AAID-HUMU2%3E3.0.CO%3B2-0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.5.1908"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2004-1110"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-002-0767-6"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F16.3.1215"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00215684"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2F346240a0"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fbdrc.20144"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050680"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2899%2900168-5"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejogrb.2003.10.035"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093%2Fmolehr%2Fgah216"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2802%2911248-7"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2005.05.012"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/316536","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/316536","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:18:38Z","timestamp":1745435918000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000316536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,12]]},"references-count":24,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2011,1,1]]},"published-print":{"date-parts":[[2011,1,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000316536","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2010,8,12]]}}}