{"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":1792601598462,"version":"4.5.0"},"reference-count":37,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9\u201319.7%) patients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest of the patients did not have gonadoblastoma or carcinoma in situ on histopathological evaluation. Three patients (age, &amp;gt;50 yr) positive for Y chromosome material chose not to have ovariectomy performed, and detailed ultrasonographies did not suggest the presence of gonadoblastoma. The frequency of Y chromosome material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7\u201310%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias. This study emphasizes the need for prospective unbiased studies.<\/jats:p>","DOI":"10.1210\/jcem.85.9.6800","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:06:07Z","timestamp":1389200767000},"page":"3199-3202","source":"Crossref","is-referenced-by-count":22,"title":["Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study*"],"prefix":"10.1210","volume":"85","author":[{"given":"Claus H\u00f8jbjerg","family":"Gravholt","sequence":"first","affiliation":[{"name":"Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, A\u030arhus Kommunehospital, A\u030arhus University Hospital (C.H.G.), DK-8000 A\u030arhus"},{"name":"Cytogenetic Laboratory, Department of Biological Psychiatry, Institute for Basic Research, Psychiatric Hospital (C.H.G.), DK-8000 A\u030arhus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Fedder","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Skejby Sygehus, A\u030arhus University Hospital (J.F.), DK-8000 A\u030arhus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rune Weis","family":"Naeraa","sequence":"additional","affiliation":[{"name":"Pediatric Department A, Skejby Sygehus, A\u030arhus University Hospital (R.W.N.), DK-8000 A\u030arhus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f8rn","family":"Mu\u0308ller","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction, Rigshospitalet (J.M.), 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613533329000_R1","first-page":"298","article-title":"Malignant potential of the dysgenetic gonad. Part 1.","volume":"44","year":"1974","journal-title":"Obstet Gynecol"},{"key":"2020071613533329000_R2","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0002-9378(76)90160-5","article-title":"The age of occurrence of gonadal tumors in intersex patients with a Y chromosome.","volume":"124","author":"Manuel","year":"1976","journal-title":"Am J Obstet Gynecol"},{"key":"2020071613533329000_R3","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0165-4608(87)90180-4","article-title":"Abnormal sexual differentiation and neoplasia.","volume":"25","author":"Verp","year":"1987","journal-title":"Cancer Genet Cytogenet"},{"key":"2020071613533329000_R4","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/0140-6736(93)91345-M","article-title":"Detection of Y chromosome sequences in Turner\u2019s syndrome by Southern blot analysis of amplified DNA.","volume":"342","author":"Kocova","year":"1993","journal-title":"Lancet"},{"key":"2020071613533329000_R5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1399-0004.1995.tb04046.x","article-title":"Parental origin of the X chromosome, X chromosome mosaicism and screening for \u201chidden\u201d Y chromsome in 45,X Turner syndrome ascertained cytogenetically.","volume":"48","author":"Larsen","year":"1995","journal-title":"Clin Genet"},{"key":"2020071613533329000_R6","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<120::AID-AJMG3>3.0.CO;2-X","article-title":"Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.","volume":"76","author":"Lopez","year":"1998","journal-title":"Am J Med Genet"},{"key":"2020071613533329000_R7","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0895-4356(97)00237-0","article-title":"Morbidity in Turner syndrome.","volume":"51","author":"Gravholt","year":"1998","journal-title":"J Clin Epidemiol"},{"key":"2020071613533329000_R8","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1038\/bjc.1996.222","article-title":"Occurrence of cancer in women with Turner syndrome.","volume":"73","author":"Hasle","year":"1996","journal-title":"Br J Cancer"},{"key":"2020071613533329000_R9","first-page":"1400","article-title":"Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.","volume":"57","author":"Tsuchiya","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2020071613533329000_R10","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/346240a0","article-title":"A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif see comments.","volume":"346","author":"Sinclair","year":"1990","journal-title":"Nature"},{"key":"2020071613533329000_R11","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/ajmg.1320410127","article-title":"PCR detection of distal Yp sequences in an XX true hermaphrodite.","volume":"41","author":"Nakagome","year":"1991","journal-title":"Am J Med Genet"},{"key":"2020071613533329000_R12","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/0092-8674(87)90595-2","article-title":"The sex-determining region of the human Y chromosome encodes a finger protein.","volume":"51","author":"Page","year":"1987","journal-title":"Cell"},{"key":"2020071613533329000_R13","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/jcla.1860050308","article-title":"Prenatal sexing and detection of ZFY gene sequences in sex chromosome disorders by polymerase chain reaction.","volume":"5","author":"Sasi","year":"1991","journal-title":"J Clin Lab Anal"},{"key":"2020071613533329000_R14","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1126\/science.1439769","article-title":"The human Y chromosome: a 43-interval map based on naturally occurring deletions.","volume":"258","author":"Vollrath","year":"1992","journal-title":"Science"},{"key":"2020071613533329000_R15","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF01900712","article-title":"PCR detection of structurally abnormal Y chromosomes.","volume":"37","author":"Nagafuchi","year":"1992","journal-title":"Jpn J Hum Genet"},{"key":"2020071613533329000_R16","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/262182a0","article-title":"Repeated sequence specific to human males.","volume":"262","year":"1976","journal-title":"Nature"},{"key":"2020071613533329000_R17","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1159\/000133053","article-title":"A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity.","volume":"56","author":"Nakagome","year":"1991","journal-title":"Cytogenet Cell Genet"},{"key":"2020071613533329000_R18","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/0092-8674(93)90616-X","article-title":"A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.","volume":"75","author":"Ma","year":"1993","journal-title":"Cell"},{"key":"2020071613533329000_R19","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1046\/j.1365-2559.1997.d01-580.x","article-title":"Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells.","volume":"30","author":"Jorgensen","year":"1997","journal-title":"Histopathology"},{"key":"2020071613533329000_R20","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1097\/00003081-199306000-00021","article-title":"Ultrasound screening in women at risk for ovarian cancer.","volume":"36","year":"1993","journal-title":"Clin Obstet Gynecol"},{"key":"2020071613533329000_R21","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0009-9260(05)81077-3","article-title":"Diagnosing early ovarian cancer with ultrasound\u2013research goal or clinical reality?","volume":"48","author":"Spencer","year":"1993","journal-title":"Clin Radiol"},{"key":"2020071613533329000_R22","doi-asserted-by":"crossref","first-page":"3532","DOI":"10.1210\/jcem.80.12.8530595","article-title":"Nested polymerase chain reaction study of 53 cases with Turner\u2019s syndrome: is cytogenetically undetected Y mosaicism common?","volume":"80","author":"Binder","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613533329000_R23","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/ajmg.1320570305","article-title":"PCR-based study of the presence of Y chromosome sequences in patients with Ullrich-Turner syndrome.","volume":"57","author":"Coto","year":"1995","journal-title":"Am J Med Genet"},{"key":"2020071613533329000_R24","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<283::AID-AJMG1>3.0.CO;2-R","article-title":"PCR detection of Y specific sequences in patients with Ullrich-Turner syndrome: clinical implications, and limitations.","volume":"76","author":"Osipova","year":"1998","journal-title":"Am J Med Genet"},{"key":"2020071613533329000_R25","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1136\/jmg.32.12.962","article-title":"Cytogenetic and molecular findings in patients with Turner\u2019s syndrome stigmata.","volume":"32","author":"Kuznetzova","year":"1995","journal-title":"J Med Genet"},{"key":"2020071613533329000_R26","first-page":"1289","article-title":"Screening for Y derived sex determining gene SRY in 40 patients with Turner syndrome.","volume":"75","author":"Medlej","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613533329000_R27","first-page":"157","article-title":"Y chromosome-specific DNA sequences in Turner-syndrome mosaicism.","volume":"41","author":"Gemmill","year":"1987","journal-title":"Am J Hum Genet"},{"key":"2020071613533329000_R28","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1017\/S0003480097006507","article-title":"Turner syndrome: a cytogenetic and molecular study.","volume":"61","author":"Jacobs","year":"1997","journal-title":"Ann Hum Genet"},{"key":"2020071613533329000_R29","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1002\/1097-0142(197006)25:6<1340::AID-CNCR2820250612>3.0.CO;2-N","article-title":"Gonadoblastoma. A review of 74 cases.","volume":"25","year":"1970","journal-title":"Cancer"},{"key":"2020071613533329000_R30","article-title":"Mortality in Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects","author":"Naeraa","year":"1995"},{"key":"2020071613533329000_R31"},{"key":"2020071613533329000_R32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/BF00225076","article-title":"XY gonadal dysgenesis, and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.","volume":"95","author":"Barbosa","year":"1995","journal-title":"Hum Genet"},{"key":"2020071613533329000_R33","first-page":"169","volume":"320","author":"Burgoyne","year":"1986"},{"key":"2020071613533329000_R34","article-title":"Evidence for more than one male-specific antigen in the human. In: Boutaleb Y, Gzouli A, eds","author":"Fedder","year":"1991"},{"key":"2020071613533329000_R35","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00295534","article-title":"46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?","volume":"69","author":"Warner","year":"1985","journal-title":"Hum Genet"},{"key":"2020071613533329000_R36","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00291575","article-title":"Turner syndrome patients are H-Y positive.","volume":"54","author":"Wolf","year":"1980","journal-title":"Hum Genet"},{"key":"2020071613533329000_R37","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/BF00295522","article-title":"H-Y transplantation antigen in human XO females.","volume":"69","year":"1985","journal-title":"Hum Genet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/9\/3199\/9060525\/jcem3199.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/9\/3199\/9060525\/jcem3199.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:53:38Z","timestamp":1594947218000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/85\/9\/3199\/2660561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9,1]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2000,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.85.9.6800","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,9,1]]}}}