{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:15:06Z","timestamp":1789708506695,"version":"4.0.1"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%\u201320%.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Aim:<\/jats:bold> To report a case of an OT-DSD patient with a rare karyotype constitution.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Case report:<\/jats:bold> A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX\/47,XXY\/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.<\/jats:p>","DOI":"10.1515\/jpem-2014-0328","type":"journal-article","created":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T10:06:53Z","timestamp":1418724413000},"page":"677-680","source":"Crossref","is-referenced-by-count":12,"title":["Ovotesticular disorder of sex development with unusual karyotype: patient report"],"prefix":"10.1515","volume":"28","author":[{"given":"Georgette Beatriz","family":"Paula","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Gabriel","family":"Ribeiro Andrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme","family":"Guaragna-Filho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Let\u00edcia Esposito","family":"Sewaybricker","sequence":"additional","affiliation":[{"name":"Program in Child and Adolescent Health, School of Medical Sciences, Department of Pediatrics, Unit of Pediatric Endocrinology, State University of Campinas (UNICAMP), SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcio Lopes","family":"Miranda","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Department of Surgery, Division of Pediatric Surgery, State University of Campinas (UNICAMP), SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a Trevas","family":"Maciel-Guerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2014,12,16]]},"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0328\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0328\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T05:15:40Z","timestamp":1653974140000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0328\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,16]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2014,12,16]]},"published-print":{"date-parts":[[2015,5,1]]}},"alternative-id":["10.1515\/jpem-2014-0328"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0328","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12,16]]}}}