{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:11:21Z","timestamp":1783930281893,"version":"3.55.0"},"reference-count":13,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>46,XX testicular disorder of sex development (DSD), also known as De la Chapelle syndrome, is a rare condition characterized by a male phenotype in individuals with a 46,XX karyotype, most commonly caused by translocation of the sex-determining region Y (SRY) gene. Diagnosis is frequently delayed until adulthood because external genitalia are typically unambiguous. We report adult monozygotic twins referred for infertility evaluation who were found to have azoospermia and markedly reduced testicular volume. Cytogenetic analysis revealed a 46,XX karyotype in both individuals, and molecular testing confirmed the presence of the SRY gene and complete absence of all azoospermia factor regions. Endocrine evaluation demonstrated low serum testosterone concentrations with normal to mildly elevated gonadotropins, consistent with primary testicular failure. Imaging revealed no residual M\u00fcllerian duct structures. This exceptionally rare twin presentation highlights the importance of genetic testing in men presenting with azoospermia, provides insight into the timing of sex-determining genetic events, and underscores the need for long-term endocrine follow-up in individuals with 46,XX testicular DSD.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag180","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T07:45:50Z","timestamp":1783928750000},"source":"Crossref","is-referenced-by-count":0,"title":["<i>SRY<\/i>\n                    -positive 46,XX testicular disorder of sex development in adult monozygotic twins"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4496-9181","authenticated-orcid":false,"given":"Veljko","family":"Pantovi\u0107","sequence":"first","affiliation":[{"name":"University Clinical Center of Serbia\u2014Clinic for Endocrinology, Diabetes and Diseases of Metabolism\u2014National Center for Infertility and Endocrinology of Gender, Belgrade 11000 , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7290-5181","authenticated-orcid":false,"given":"Milina","family":"Tan\u010di\u0107-Gaji\u0107","sequence":"additional","affiliation":[{"name":"University Clinical Center of Serbia\u2014Clinic for Endocrinology, Diabetes and Diseases of Metabolism\u2014National Center for Infertility and Endocrinology of Gender, Belgrade 11000 , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Mileti\u0107","sequence":"additional","affiliation":[{"name":"University Clinical Center of Serbia\u2014Clinic for Endocrinology, Diabetes and Diseases of Metabolism\u2014National Center for Infertility and Endocrinology of Gender, Belgrade 11000 , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taisa","family":"Bojovi\u0107","sequence":"additional","affiliation":[{"name":"University Clinical Center of Serbia\u2014Clinic for Endocrinology, Diabetes and Diseases of Metabolism\u2014National Center for Infertility and Endocrinology of Gender, Belgrade 11000 , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Vujovi\u0107","sequence":"additional","affiliation":[{"name":"University Clinical Center of Serbia\u2014Clinic for Endocrinology, Diabetes and Diseases of Metabolism\u2014National Center for Infertility and Endocrinology of Gender, Belgrade 11000 , Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"key":"2026071303454452200_luag180-B1","doi-asserted-by":"crossref","first-page":"1385901","DOI":"10.3389\/fendo.2024.1385901","article-title":"Testicular differentiation in 46,XX disorders of sex development: an overview of genetic causes","volume":"15","author":"Ferrari","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"2026071303454452200_luag180-B2","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41585-023-00754-x","article-title":"Genetic control of typical and atypical sex development","volume":"20","author":"Reyes","year":"2023","journal-title":"Nat Rev Urol"},{"issue":"8","key":"2026071303454452200_luag180-B3","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1515\/JPEM.2005.18.8.739","article-title":"Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature","volume":"18","author":"Ergun-Longmire","year":"2005","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"2","key":"2026071303454452200_luag180-B4","doi-asserted-by":"crossref","first-page":"168","DOI":"10.4103\/1008-682X.181224","article-title":"46,XX karyotype during male fertility evaluation: case series and literature review","volume":"19","author":"Majzoub","year":"2017","journal-title":"Asian J 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opinion","volume":"109","author":"Practice Committee of the American Society for Reproductive Medicine in collaboration with the Society for Male Reproduction and Urology","year":"2018","journal-title":"Fertil Steril"},{"issue":"4","key":"2026071303454452200_luag180-B12","doi-asserted-by":"crossref","first-page":"622","DOI":"10.7705\/biomedica.4687","article-title":"Male patient with 46,XX SRY-negative karyotype and unambiguous genitalia: a case report","volume":"39","author":"Casas-Vargas","year":"2019","journal-title":"Biom\u00e9dica"},{"issue":"6","key":"2026071303454452200_luag180-B13","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"Krausz","year":"2018","journal-title":"Nat Rev Urol"}],"container-title":["JCEM Case 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