title: Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.
abstract: The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1). The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY mixed gonadal dysgenesis, 17α-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively. Our results suggest that the incidence of gonadal malignancy increases with age for female patients with Y-chromosome material. Upon diagnoses, immediate, prophylactic gonadectomies should be considered for adult female patients with DSD containing Y chromosome material if they cannot receive regular follow-ups.
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
authors.forename: Jian-Fa
authors.initials: JF
authors.lastname: Jiang
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xue
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Deng
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
authors.forename: Qin-Jie
authors.initials: QJ
authors.lastname: Tian
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
authors.forename: Ai-Jun
authors.initials: AJ
authors.lastname: Sun
mesh_terms: D000293:Adolescent; D000328:Adult; D058490:Disorder of Sex Development, 46,XY / Q000150:complications*; D005260:Female; D006801:Humans; D018309:Neoplasms, Gonadal Tissue / Q000209:etiology* / Q000601:surgery; D012189:Retrospective Studies; D055815:Young Adult
keywords: Germ cell tumors; Y chromosome; gonadal malignancy; gonadectomy; sex development disorder