{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:03:52Z","timestamp":1783476232937,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,11,10]],"date-time":"2016-11-10T00:00:00Z","timestamp":1478736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Phenotypic female disorders of sex development (<jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content>) patients with Y chromosome or Y\u2010derived sequence have an increased risk of gonadal germ cell tumours (<jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s). The objective of the study was to evaluate tumour risk of <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content>, summarize the clinical characteristics of patients with <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s and propose management suggestions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Medical records of 292 patients diagnosed <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content> and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed. Tumour histopathological types, risks and clinical characteristics were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The tumours in <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content> included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s risk was 15\u00b741% and 46, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> pure gonadal dysgenesis (46, <jats:styled-content style=\"fixed-case\">XY PGD<\/jats:styled-content>) carried the highest risk up to 23\u00b733%, followed by complete androgen insensitivity syndrome (<jats:styled-content style=\"fixed-case\">CAIS<\/jats:styled-content>). The risk of mixed gonadal dysgenesis (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>) or 46, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> 17 alpha\u2010hydroxylase\/17, 20\u2010lyase deficiency (46, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> 17 <jats:styled-content style=\"fixed-case\">OHD<\/jats:styled-content>) was &lt;10%, and no tumour was found in five testis regression patients. The ages (years) of tumour diagnosed ranged from 11 to 29 [18 (15, 21) years]. The median age of androgen insensitivity syndrome (<jats:styled-content style=\"fixed-case\">AIS<\/jats:styled-content>) with tumours was comparatively late [19 (18, 24) years], while <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s occurred during adolescence in 46, <jats:styled-content style=\"fixed-case\">XY PGD<\/jats:styled-content> [17 (15, 20) years] and mixed <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> [15 (15, 17) years]. Sex hormone levels were generally unaffected by gonadal <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s. The positive tumour marker rate before surgery was 58\u00b782% (10\/17). Elevated lactate dehydrogenase (<jats:styled-content style=\"fixed-case\">LDH<\/jats:styled-content>) was observed in six cases with dysgerminoma\/seminoma. Remarkably elevated \u03b1\u2010fetoprotein (<jats:styled-content style=\"fixed-case\">AFP<\/jats:styled-content>) or human chorionic gonadotropin (<jats:styled-content style=\"fixed-case\">hCG<\/jats:styled-content>) was seen in cases with yolk sac tumour or choriocarcinoma, respectively. Mild hyperandrogenism was observed in seven cases with <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s. Fourteen of 17 pelvic masses found before operation was later proved malignant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Disorders of sex development patients with Y chromosome materials have a significantly increased risk of <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s. Gonadoblastoma and dysgerminoma\/seminoma are the most prevalent <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s and 46, <jats:styled-content style=\"fixed-case\">XY PGD<\/jats:styled-content> carries the highest tumour presence and malignancy risk. <jats:styled-content style=\"fixed-case\">AIS<\/jats:styled-content> could postpone bilateral gonadectomy until or after adolescence, while others with streak gonads should undergo surgery as soon as diagnosis. Specific serum tumour markers could be used in predicting <jats:styled-content style=\"fixed-case\">GCT<\/jats:styled-content>s and monitoring. Optimal care and close follow\u2010up are required.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13255","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T02:31:08Z","timestamp":1476412268000},"page":"621-627","source":"Crossref","is-referenced-by-count":68,"title":["Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y\u2010derived sequence"],"prefix":"10.1111","volume":"86","author":[{"given":"He","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunqing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing 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