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• W2531253057 abstract "Summary Objective Phenotypic female disorders of sex development ( DSD ) patients with Y chromosome or Y‐derived sequence have an increased risk of gonadal germ cell tumours ( GCT s). The objective of the study was to evaluate tumour risk of DSD , summarize the clinical characteristics of patients with GCT s and propose management suggestions. Methods Medical records of 292 patients diagnosed DSD 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. Results The tumours in DSD included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall GCT s risk was 15·41% and 46, XY pure gonadal dysgenesis (46, XY PGD ) carried the highest risk up to 23·33%, followed by complete androgen insensitivity syndrome ( CAIS ). The risk of mixed gonadal dysgenesis ( GD ) or 46, XY 17 alpha‐hydroxylase/17, 20‐lyase deficiency (46, XY 17 OHD ) was <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 ( AIS ) with tumours was comparatively late [19 (18, 24) years], while GCT s occurred during adolescence in 46, XY PGD [17 (15, 20) years] and mixed GD [15 (15, 17) years]. Sex hormone levels were generally unaffected by gonadal GCT s. The positive tumour marker rate before surgery was 58·82% (10/17). Elevated lactate dehydrogenase ( LDH ) was observed in six cases with dysgerminoma/seminoma. Remarkably elevated α‐fetoprotein ( AFP ) or human chorionic gonadotropin ( hCG ) was seen in cases with yolk sac tumour or choriocarcinoma, respectively. Mild hyperandrogenism was observed in seven cases with GCT s. Fourteen of 17 pelvic masses found before operation was later proved malignant. Conclusion Disorders of sex development patients with Y chromosome materials have a significantly increased risk of GCT s. Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCT s and 46, XY PGD carries the highest tumour presence and malignancy risk. AIS 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 GCT s and monitoring. Optimal care and close follow‐up are required." @default.
• W2531253057 created "2016-10-21" @default.
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• W2531253057 date "2016-11-10" @default.
• W2531253057 modified "2023-10-15" @default.
• W2531253057 title "Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence" @default.
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• W2531253057 doi "https://doi.org/10.1111/cen.13255" @default.
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