Jiang Jian-Fa, Xue Wei, Deng Yan, Tian Qin-Jie, Sun Ai-Jun
a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College , Beijing , China.
Gynecol Endocrinol. 2016;32(4):338-41. doi: 10.3109/09513590.2015.1116509. Epub 2015 Nov 26.
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.
本研究的目的是在一大群患有性发育障碍（DSD）的成年女性患者中，研究性腺恶性肿瘤的风险。我们进行了一项回顾性观察研究，时间跨度为1992年7月至2015年3月，共纳入202例患有DSD的女性。我们测量了不同类型DSD的肿瘤风险。我们发现患者的性腺恶性肿瘤总风险为18.3%（37/202）。肿瘤包括性腺母细胞瘤（n = 11）、精原细胞瘤（n = 8）、无性细胞瘤（n = 5）、绒毛膜癌（n = 1）、支持细胞瘤（n = 11）和间质细胞瘤（n = 1）。完全性雄激素不敏感综合征（CAIS）、单纯46，XY性腺发育不全、45 X/46 XY混合性性腺发育不全、17α-羟化酶/17,20-裂解酶缺乏症和部分雄激素不敏感综合征（PAIS）患者的性腺恶性肿瘤发生率分别为27.1%（13/48）、22.4%（15/67）、10.9%（5/46）、10%（2/20）和9.5%（2/21）。我们的结果表明，对于携带Y染色体物质的女性DSD患者，性腺恶性肿瘤的发生率随年龄增长而增加。一旦确诊，如果成年女性DSD患者无法接受定期随访且携带Y染色体物质，应考虑立即进行预防性性腺切除术。
