{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:18:21Z","timestamp":1774934301406,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004374","name":"Chongqing Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004374","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejog.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Obstetrics & Gynecology and Reproductive Biology"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.ejogrb.2025.113986","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T19:17:35Z","timestamp":1746213455000},"page":"113986","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["A rare case of 46,XY disorder of sex development with female phenotype: Case report and review of the literature"],"prefix":"10.1016","volume":"311","author":[{"given":"Miao","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maolin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongyao","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengjun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0335-7669","authenticated-orcid":false,"given":"Shengde","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejogrb.2025.113986_b0005","first-page":"1","article-title":"Pediatric and Adolescent Andrology. Springer","author":"Foresta","year":"2021","journal-title":"Nature"},{"issue":"7","key":"10.1016\/j.ejogrb.2025.113986_b0010","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/s41574-018-0010-8","article-title":"Caring for individuals with a difference of sex development (DSD): a Consensus Statement","volume":"14","author":"Cools","year":"2018","journal-title":"Nat Rev Endocrinol"},{"issue":"7","key":"10.1016\/j.ejogrb.2025.113986_b0015","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","article-title":"Consensus statement on management of intersex disorders","volume":"91","author":"Hughes","year":"2006","journal-title":"Arch Dis Child"},{"issue":"4","key":"10.1016\/j.ejogrb.2025.113986_b0020","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/humrep\/deae026","article-title":"A case report of a normal fertile woman with 46,XX\/46,XY somatic chimerism reveals a critical role for germ cells in sex determination","volume":"39","author":"Cheng","year":"2024","journal-title":"Hum Reprod"},{"issue":"4","key":"10.1016\/j.ejogrb.2025.113986_b0025","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"7996","key":"10.1016\/j.ejogrb.2025.113986_b0030","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/s41586-023-06832-9","article-title":"Predicting multiple conformations via sequence clustering and AlphaFold2","volume":"625","author":"Wayment-Steele","year":"2024","journal-title":"Nature"},{"issue":"13","key":"10.1016\/j.ejogrb.2025.113986_b0035","first-page":"e74","article-title":"DSSR-enabled innovative schematics of 3D nucleic acid structures with PyMOL","volume":"48","author":"Lu","year":"2020","journal-title":"Nucleic Acids Res"},{"issue":"W1","key":"10.1016\/j.ejogrb.2025.113986_b0040","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.ejogrb.2025.113986_b0045","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ejogrb.2025.113986_b0050","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1477-7819-5-71","article-title":"Dysgerminoma in three patients with Swyer syndrome","volume":"5","author":"Behtash","year":"2007","journal-title":"World J Surg Oncol"},{"issue":"3","key":"10.1016\/j.ejogrb.2025.113986_b0055","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.jgyn.2007.12.004","article-title":"Swyer syndrome: report of 5 cases","volume":"38","author":"Ben Temime","year":"2009","journal-title":"J Gynecol Obstet Biol Reprod (Paris)"},{"issue":"7","key":"10.1016\/j.ejogrb.2025.113986_b0060","doi-asserted-by":"crossref","first-page":"770","DOI":"10.4158\/EP15606.OR","article-title":"Ovotesticular disorder of sex development: a single-center experience","volume":"21","author":"Khadilkar","year":"2015","journal-title":"Endocr Pract"},{"issue":"1","key":"10.1016\/j.ejogrb.2025.113986_b0065","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1530\/EJE-12-0136","article-title":"Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development","volume":"167","author":"Ledig","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"10.1016\/j.ejogrb.2025.113986_b0070","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13578-020-00490-4","article-title":"DNA methylation modification is associated with gonadal differentiation in Monopterus albus","volume":"10","author":"Wang","year":"2020","journal-title":"Cell Biosci"},{"issue":"4","key":"10.1016\/j.ejogrb.2025.113986_b0075","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/s41419-021-03676-x","article-title":"Cellular fate of intersex differentiation","volume":"12","author":"Wang","year":"2021","journal-title":"Cell Death Dis"},{"issue":"5","key":"10.1016\/j.ejogrb.2025.113986_b0080","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/j.ajhg.2009.03.016","article-title":"Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene","volume":"84","author":"Biason-Lauber","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.ejogrb.2025.113986_b0085","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1093\/humrep\/16.1.56","article-title":"Chimerism in a fertile woman with 46,XY karyotype and female phenotype","volume":"16","author":"Sudik","year":"2001","journal-title":"Hum Reprod"},{"issue":"9","key":"10.1016\/j.ejogrb.2025.113986_b0090","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1002\/dvdy.20894","article-title":"Balancing the bipotential gonad between alternative organ fates: a new perspective on an old problem","volume":"235","author":"Kim","year":"2006","journal-title":"Dev Dyn"},{"issue":"2","key":"10.1016\/j.ejogrb.2025.113986_b0095","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nrendo.2012.235","article-title":"Disorders of sex development: new genes, new concepts","volume":"9","author":"Ono","year":"2013","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"10.1016\/j.ejogrb.2025.113986_b0100","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1093\/humrep\/dez004","article-title":"Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY","volume":"34","author":"Vogt","year":"2019","journal-title":"Hum Reprod"},{"issue":"3","key":"10.1016\/j.ejogrb.2025.113986_b0105","doi-asserted-by":"crossref","DOI":"10.3390\/jcm13030785","article-title":"A risk of gonadoblastoma in familial Swyer syndrome-a case report and literature review","volume":"13","author":"Rudnicka","year":"2024","journal-title":"J Clin Med"},{"issue":"2","key":"10.1016\/j.ejogrb.2025.113986_b0110","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/00006254-198602000-00002","article-title":"Neoplasia arising in dysgenetic gonads","volume":"41","author":"Troche","year":"1986","journal-title":"Obstet Gynecol Surv"},{"issue":"4","key":"10.1016\/j.ejogrb.2025.113986_b0115","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1111\/j.1365-2265.1990.tb00893.x","article-title":"Gonadal neoplasia and abnormal sexual differentiation","volume":"32","author":"Savage","year":"1990","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"10.1016\/j.ejogrb.2025.113986_b0120","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/0002-9378(76)90011-9","article-title":"Pure gonadal dysgenesis with an XY chromosomal constitution (Swyer's syndrome): Report of two cases","volume":"124","author":"Bruneteau","year":"1976","journal-title":"Am J Obstet Gynecol"},{"issue":"3","key":"10.1016\/j.ejogrb.2025.113986_b0125","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1136\/jmg.25.3.206","article-title":"Unusual dual genital duct remnants in true hermaphroditism","volume":"25","author":"Williams","year":"1988","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.ejogrb.2025.113986_b0130","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1080\/17843286.1988.11717936","article-title":"A new case of human chimerism detected after pregnancy: 46,XY karyotype in the lymphocytes of a woman","volume":"43","author":"De Moor","year":"1988","journal-title":"Acta Clin Belg"},{"issue":"2","key":"10.1016\/j.ejogrb.2025.113986_b0135","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/BF00284058","article-title":"Demonstration of spontaneous XX\/XY chimerism by DNA fingerprinting","volume":"82","author":"Farber","year":"1989","journal-title":"Hum Genet"},{"issue":"6","key":"10.1016\/j.ejogrb.2025.113986_b0140","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1097\/00005792-199111000-00003","article-title":"Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation","volume":"70","author":"Berkovitz","year":"1991","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.ejogrb.2025.113986_b0145","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1093\/humrep\/16.1.56","article-title":"Chimerism in a fertile woman with 46,XY karyotype and female phenotype","volume":"16","author":"Sudik","year":"2001","journal-title":"Hum Reprod"},{"issue":"3","key":"10.1016\/j.ejogrb.2025.113986_b0150","first-page":"408","article-title":"46, Clinical analysis of XY sex reversal associated with metablastoma and dysgerminoma","author":"Lu","year":"2013","journal-title":"Chinese J Obstet Gynecol Pediatr (Electron Ed)"}],"container-title":["European Journal of Obstetrics & Gynecology and Reproductive Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0301211525002556?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0301211525002556?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T03:45:19Z","timestamp":1774928719000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0301211525002556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":30,"alternative-id":["S0301211525002556"],"URL":"https:\/\/doi.org\/10.1016\/j.ejogrb.2025.113986","relation":{},"ISSN":["0301-2115"],"issn-type":[{"value":"0301-2115","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A rare case of 46,XY disorder of sex development with female phenotype: Case report and review of the literature","name":"articletitle","label":"Article Title"},{"value":"European Journal of Obstetrics & Gynecology and Reproductive Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejogrb.2025.113986","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"113986"}}