{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:53:18Z","timestamp":1792601598264,"version":"4.5.0"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T00:00:00Z","timestamp":1669248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X\/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study aimed to evaluate the prevalence of GB, its characteristics, as well as its risk factors, according to the type of Y chromosomal material in the karyotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Our study within French rare disease centers included patients with TS and a 45,X\/46,XY karyotype, without ambiguity of external genitalia. Clinical characteristics of the patients, their age at gonadectomy, and gonadal histology were recorded. The regions of the Y chromosome, the presence of TSPY regions, and the percentage of 45,X\/46,XY mosaicism were evaluated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 70 patients were recruited, with a median age of 29.5 years (21.0\u201336.0) at the end of follow-up. Fifty-eight patients had a gonadectomy, at a mean age of 15 \u00b1 8 years. GB was present in nine cases. Two were malignant, which were discovered at the age of 14 and 32 years, without metastases. Neither the percentage of XY cells within the 45,X\/46,XY mosaicism nor the number of TSPY copies was statistically different in patients with or without GB (P\u2009=\u20090.37). However, the entire Y chromosome was frequent in patients with GB (6\/9).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>In our study, including a large number of patients with 45,X\/46,XY TS, the prevalence of gonadoblastoma is 12.8%. An entire Y chromosome appears as the main risk factor of GB and should favor early gonadectomy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Significant statement<\/jats:title>\n                  <jats:p>About 10% of patients with TS have a karyotype containing Y chromosomal material: 45,X\/46,XY. Its presence is related to the risk of GB. Therefore, a prophylactic gonadectomy is currently recommended in such patients. However, the quality of evidence is low. Our objective was to evaluate the prevalence of GB according to the type of Y-chromosomal material. We found a prevalence of GB of 12.8% in a cohort of 70 TS patients. No sign of hyperandrogenism was observed. The entire Y chromosome was the most frequent type of Y-material in patients with GB. As the prognosis of these tumors was good, a delay of surgery might be discussed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1530\/eje-22-0593","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T11:27:24Z","timestamp":1666956444000},"page":"873-881","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":18,"title":["Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X\/46,XY karyotype"],"prefix":"10.1093","volume":"187","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2235-629X","authenticated-orcid":false,"given":"Daphn\u00e9","family":"Karila","sequence":"first","affiliation":[{"name":"Sorbonne University, Endocrine Unit, Reproductive Medicine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement (CRMERC), Endo-ERN (id 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Centre de r\u00e9f\u00e9rence des maladies rares du d\u00e9veloppement (DEVGEN), Endo-ERN Le Kremlin Bic\u00eatre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bachelot","sequence":"additional","affiliation":[{"name":"Sorbonne University, Department of Endocrinology and Reproductive Medicine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, CRMERC, Endo-ERN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, AP-HP , Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Kerlan","sequence":"additional","affiliation":[{"name":"Endocrine Unit, CHU Brest , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Catteau-Jonard","sequence":"additional","affiliation":[{"name":"University Lille, Gynecology, CHU Lille , Lille, 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