{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:03:24Z","timestamp":1791389004873,"version":"4.3.3"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0324_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Approximately 90% of \u201cXX males\u201d are positive for <jats:italic>SRY<\/jats:italic>. However, there are isolated cases of sex reversal associated to other genes in male-determining pathway.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0324_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We describe a 1.3-old patient with 46,XX karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a <jats:italic>de novo<\/jats:italic> 273\u00a0kb duplication in the Xq27.1 region that contains <jats:italic>SOX3<\/jats:italic>. FISH\u00a0with probe specific to <jats:italic>SOX3<\/jats:italic> confirmed a unique genomic location of this duplication, dislocated proximal to the centromere of the X chromosome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0324_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This rare genetic condition was described in\u00a0few other isolated cases that have associated <jats:italic>SOX3<\/jats:italic> genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0324","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T08:44:27Z","timestamp":1664786667000},"page":"86-90","source":"Crossref","is-referenced-by-count":9,"title":["The smallest dislocated microduplication of Xq27.1 harboring <i>SOX3<\/i> gene associated with XX male phenotype"],"prefix":"10.1515","volume":"36","author":[{"given":"Maja","family":"Oroz","sequence":"first","affiliation":[{"name":"Cytogenetic Laboratory, Department of Obstetrics and Gynecology , Clinical Hospital \u201cSveti Duh\u201d , Zagreb , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3962-0269","authenticated-orcid":false,"given":"Ana","family":"Vi\u010di\u0107","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Department of Obstetrics and Gynecology , Clinical Hospital \u201cSveti Duh\u201d , Zagreb , Croatia"},{"name":"University of Applied Health Sciences , Zagreb , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Po\u017egaj \u0160epec","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University Hospital Center Sestre Milosrdnice , Zagreb , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Karna\u0161","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , General Hospital Vinkovci , Vinkovci , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordana","family":"Stipan\u010di\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University Hospital Center Sestre Milosrdnice , Zagreb , Croatia"},{"name":"School of Dental Medicine , University of Zagreb , Zagreb , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feodora","family":"Stipoljev","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Department of Obstetrics and Gynecology , Clinical Hospital \u201cSveti Duh\u201d , Zagreb , Croatia"},{"name":"Faculty of Medicine , Josip Juraj Strossmayer University of Osijek , Osijek , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"key":"2023033122552039170_j_jpem-2022-0324_ref_001","doi-asserted-by":"crossref","unstructured":"Sutton, E, Hughes, J, White, S, Sekido, R, Tan, J, Arboleda, V, et al.. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest 2011;121:328\u201341. https:\/\/doi.org\/10.1172\/JCI42580.","DOI":"10.1172\/JCI42580"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_002","doi-asserted-by":"crossref","unstructured":"Moalem, S, Babul-Hirji, R, Stavropolous, DJ, Wherrett, D, B\u00e4gli, DJ, Thomas, P, et al.. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet 2012;158:1759\u201364. https:\/\/doi.org\/10.1002\/ajmg.a.35390.","DOI":"10.1002\/ajmg.a.35390"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_003","doi-asserted-by":"crossref","unstructured":"Grinspon, RP, Nevado, J, Alvarez, MDLAM, Rey, GD, Castera, R, Venara, M, et al.. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy. Clin Endocrinol 2016;85:673\u20135. https:\/\/doi.org\/10.1111\/cen.13126.","DOI":"10.1111\/cen.13126"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_004","doi-asserted-by":"crossref","unstructured":"Zhuang, J, Chen, C, Li, J, Jiang, Y, Wang, J, Wang, Y, et al.. The 46, XX\u00a0ovotesticular disorder of sex development with Xq27.1q27.2\u00a0duplication involving the SOX3 gene: a rare\u00a0case\u00a0report and literature review. Front Pediatr 2021;9:682846. https:\/\/doi.org\/10.3389\/fped.2021.682.","DOI":"10.3389\/fped.2021.682846"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_005","doi-asserted-by":"crossref","unstructured":"Mizuno, K, Kojima, Y, Kamisawa, H, Moritoki, Y, Nishio, H, Nakane, A, et al.. Elucidation of distinctive genomic DNA structures in patients with 46,XX testicular disorders of sex development using genome wide analyses. 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Development 2007;134:3437\u201348. https:\/\/doi.org\/10.1242\/dev.007906.","DOI":"10.1242\/dev.007906"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_008","doi-asserted-by":"crossref","unstructured":"Hamel, BC, Smits, AP, Otten, BJ, Helm, BVD, Ropers, HH, Mariman, EC. Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. Am J Med Genet 1996;64:352\u20131. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19960712)64:1<35:AID-AJMG5>3.0.CO;2-Q.","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_009","doi-asserted-by":"crossref","unstructured":"Vetro, A, Dehghani, MR, Kraoua, L, Giorda, R, Beri, S, Cardarelli, L, et al.. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet 2015;23:1025\u201332. https:\/\/doi.org\/10.1038\/ejhg.2014.237.","DOI":"10.1038\/ejhg.2014.237"},{"key":"2023033122552039170_j_jpem-2022-0324_ref_010","doi-asserted-by":"crossref","unstructured":"Newman, S, Hermetz, KE, Weckselblatt, B, Rudd, MK. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 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