{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:49:57Z","timestamp":1791352197579,"version":"4.3.1"},"reference-count":59,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    46,XX testicular disorder of sex development (DSD), also known as XX male syndrome, is a rare condition where an individual with a 46,XX karyotype develops a male phenotype. In 90% of cases, the syndrome results from the translocation of the\n                    <jats:italic>SRY<\/jats:italic>\n                    gene to the X chromosome or an autosome. The remaining 10% of individuals lack the\n                    <jats:italic>SRY<\/jats:italic>\n                    gene. We report a case of an\n                    <jats:italic>SRY-<\/jats:italic>\n                    negative 3-year-old boy with a 46,XX karyotype exhibiting normal male external genitalia. Array CGH analysis revealed a 723-kb duplication of the Xq27.1q27.2 region, encompassing the\n                    <jats:italic>SOX3<\/jats:italic>\n                    gene. The duplication was tandem. An imbalance in X chromosome methylation was observed, with a ratio of 4.5:1. The patient\u2019s mother and grandmother, both with a 46,XX karyotype, were asymptomatic carriers of this duplication. To date,\n                    <jats:italic>SOX3<\/jats:italic>\n                    duplication has been documented in 12\n                    <jats:italic>SRY-<\/jats:italic>\n                    negative male patients and one female patient; eleven of these individuals exhibited various disorders of genital development. In contrast, only two previously reported patients displayed normal male genitalia, although associated with infertility. This case, the first reported in the Czech Republic, further supports the hypothesis that\n                    <jats:italic>SOX3<\/jats:italic>\n                    overexpression during gonadal development, accompanied by imbalanced X-chromosome inactivation, may induce testis formation, thereby compensating for the absence of the\n                    <jats:italic>SRY<\/jats:italic>\n                    gene in\n                    <jats:italic>SRY<\/jats:italic>\n                    -negative 46,XX male patients.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1861766","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:52:19Z","timestamp":1791348739000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature"],"prefix":"10.3389","volume":"17","author":[{"given":"J\u00falia","family":"Martinkov\u00e1","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"\u0158ez\u00e1\u010dov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"\u0160antav\u00e1","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital Olomouc","place":["Olomouc, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Dr\u00e1bov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"\u0160tolfa","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]},{"name":"Centre of Molecular Biology and Genetics, Faculty of Medicine, Masaryk University, University Hospital Brno","place":["Brno, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radek","family":"Vodi\u010dka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital Olomouc","place":["Olomouc, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159ina","family":"Zapletalov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Palacky University and Olomouc University Hospital","place":["Olomouc, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslava","family":"Bala\u0161\u010dakov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"K\u0159epelov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1954","DOI":"10.1158\/1078-0432.CCR-08-1290","article-title":"Sperm-derived SPANX-B is a clinically relevant tumor antigen that is expressed in human tumors and readily recognized by human CD4+ and CD8+ T cells","volume":"15","author":"Almanzar","year":"2009","journal-title":"Clin. 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