{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:25:28Z","timestamp":1767983128996,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T00:00:00Z","timestamp":1580774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Disorders of sex development (DSD) are rare conditions. Although they are known to predispose to germ cell tumors (GCT), there is a paucity of information regarding the circumstances of DSD discovery.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design\/methods<\/jats:title><jats:p>All patients with DSD registered in two French pediatric GCT protocols (TGM95 and 13) were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixteen patients were identified among 276 ovarian, 160 testicular, and 24 mediastinal GCT. Eleven phenotypic females (median age 15 years) exhibited gonadal GCT, including 10 with a 46,XY karyotype and gonadal dysgenesis and one with 46XX,45X0 mosaicism. None had genital anomalies, seven had spontaneous pubertal changes, and one had spontaneous menarche. The tumors were bilateral in four cases. DSD was diagnosed after the GCT diagnosis in seven cases. The reasons for karyotyping were bilateral tumors (3), gonadoblastoma\/streak gonad\/absence of egg follicles (3), or systematic for GCT (1). The karyotyping was performed before the GCT diagnosis in four cases: for polymalformative syndrome (2) or primary amenorrhea (2). Four males (median age 14 years) exhibited mediastinal GCT (metastatic in two cases) indicative of Klinefelter syndrome, despite typical phenotypes in all cases. The remaining patient had severe hypospadias, leading to the discovery of 46,XY\/45,X0 mosaicism before the diagnosis of testicular nonseminomatous GCT at 16 years of age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>DSD are often uncovered at the time of GCT diagnosis (11\/16 cases). This should prompt oncologists to rule out a DSD in patients with GCT, even in case of pubertal development. Earlier recognition of Klinefelter syndrome could potentially lead to GCT detection at an earlier stage.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.28169","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T03:28:33Z","timestamp":1580873313000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Disorder of sex development with germ cell tumors: Which is uncovered first?"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4717-4943","authenticated-orcid":false,"given":"C\u00e9cile","family":"Faure\u2010Conter","sequence":"first","affiliation":[{"name":"Institut d'H\u00e9matologie et d'Oncologie P\u00e9diatrique  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2520-139X","authenticated-orcid":false,"given":"Daniel","family":"Orbach","sequence":"additional","affiliation":[{"name":"Institut Curie SIREDO Oncology Center PSL University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7603-7828","authenticated-orcid":false,"given":"Brice","family":"Fresneau","sequence":"additional","affiliation":[{"name":"Gustave Roussy Cancer Campus Pediatric Oncology Unit  Villejuif France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Verit\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Centre hospitalier universitaire  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacinthe","family":"Bonneau","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Centre hospitalier universitaire  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estelle","family":"Thebaud","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Centre hospitalier 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France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederique","family":"Dijoud","sequence":"additional","affiliation":[{"name":"Institut de Pathologie Multisite Groupement hospitalier Est Hospices Civils de Lyon UCBL Lyon 1 University  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[{"name":"Institut de Pathologie Multisite Groupement hospitalier Est Hospices Civils de Lyon UCBL Lyon 1 University  Lyon 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