{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:06:12Z","timestamp":1753877172899,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":22,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mixed gonadal dysgenesis (MGD) is a rare sex development disorder, diagnosed by mosaic karyotype of 45,X\/46,XY (classical form) with the presence of M\u00fcllerian structures, unilateral testis and contralateral streak gonad. MGD expresses diverse phenotypes, from female phenotype with virilization or turner stigmata, to ambiguous genitalia or male phenotype. Early diagnosis is crucial for effective correction of height, sexual development and cancer prevention. The study reports on a case of a 25-year-old patient, reared as female, presenting a large abdominal mass later confirmed as a mixed germ cell tumor. Associated findings were primary amenorrhea, ambiguous genitalia, short statue, gender dysphoria and hyperlipidemia. The study is the first to report on hyperlipidemia in MGD.<\/jats:p>","DOI":"10.1093\/jscr\/rjad272","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T05:19:12Z","timestamp":1684905552000},"source":"Crossref","is-referenced-by-count":0,"title":["A rare case of mixed gonadal dysgenesis in adulthood: diagnostic delay and unique outcomes"],"prefix":"10.1093","volume":"2023","author":[{"given":"Ploywarong","family":"Rueangket","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Phramongkutklao Hospital , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Supreechaya","family":"Phansenee","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Phramongkutklao Hospital , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nutthaporn","family":"Laoharojvongsa","sequence":"additional","affiliation":[{"name":"Department of Pathology, Army Institute Pathology , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Worawat","family":"Boonyachan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Phramongkutklao Hospital , Bangkok , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,5,22]]},"reference":[{"key":"2023052405185942000_ref1","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus statement on management of intersex disorders. International consensus conference on intersex","volume":"118","author":"Lee","year":"2006","journal-title":"Pediatrics"},{"key":"2023052405185942000_ref2","doi-asserted-by":"crossref","first-page":"E1171","DOI":"10.1210\/jc.2011-0232","article-title":"Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X\/46,XY mosaicism","volume":"96","author":"Cools","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"2023052405185942000_ref3","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1515\/jpem-2014-0522","article-title":"Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development","volume":"28","author":"Abac\u0131","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2023052405185942000_ref4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S1083-3188(01)00133-4","article-title":"Intersexuality and gender identity differentiation","volume":"15","author":"Zucker","year":"2002","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"2023052405185942000_ref5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s10508-005-4342-9","article-title":"Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation","volume":"34","author":"Meyer-Bahlburg","year":"2005","journal-title":"Arch Sex Behav"},{"key":"2023052405185942000_ref6","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1530\/EJE-11-0756","article-title":"Impaired puberty, fertility, and final stature in 45,X\/46,XY mixed gonadal dysgenetic patients raised as boys","volume":"166","author":"Martinerie","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"2023052405185942000_ref7","first-page":"117","article-title":"Growth hormone dynamics among children with mixed gonadal dysgenesis (45,X\/46,XY)","volume":"17","author":"Das","year":"2021","journal-title":"Acta Endocrinol"},{"key":"2023052405185942000_ref8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.bbacli.2015.04.005","article-title":"Cardiometabolic and vascular risks in young and adolescent girls with turner syndrome","volume":"3","author":"Mavinkurve","year":"2015","journal-title":"BBA Clin"},{"key":"2023052405185942000_ref9","doi-asserted-by":"crossref","first-page":"e368","DOI":"10.1016\/S2666-7568(22)00115-5","article-title":"Testosterone: therapeutic or toxic for the cardiovascular health of men?","volume":"3","author":"Michos","year":"2022","journal-title":"Lancet Healthy Longevity"},{"key":"2023052405185942000_ref10","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.molmet.2018.04.003","article-title":"Sex differences in obesity, lipid metabolism, and inflammation\u2014a role for the sex chromosomes?","volume":"15","author":"Zore","year":"2018","journal-title":"Mol Metab"}],"container-title":["Journal of Surgical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2023\/5\/rjad272\/50419151\/rjad272.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2023\/5\/rjad272\/50419151\/rjad272.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T05:19:19Z","timestamp":1684905559000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jscr\/article\/doi\/10.1093\/jscr\/rjad272\/7175541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,1]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/jscr\/rjad272","relation":{},"ISSN":["2042-8812"],"issn-type":[{"type":"electronic","value":"2042-8812"}],"subject":[],"published-other":{"date-parts":[[2023,5]]},"published":{"date-parts":[[2023,5,1]]},"article-number":"rjad272"}}