Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material
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DOI：
10.3109/09513590.2015.1116509
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发表时间：
2016-04-02
影响因子：
2
通讯作者：
Sun, Ai-Jun
中科院分区：
文献类型：
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作者：
Jiang, Jian-Fa;Xue, Wei;Sun, Ai-Jun
本研究的目的是在一个大样本的成年女性性发育障碍（DSD）患者中检查性腺恶性肿瘤的风险。从1992年7月至2015年3月进行了一项回顾性观察性研究，招募了202名患有DSD的女性。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的总风险为18.3%（37/202）。肿瘤包括性腺母细胞瘤（n = 11）、卵巢癌（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混合性腺发育不全、17 α-羟化酶/17，20-裂解酶缺乏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）。我们的研究结果表明，性腺恶性肿瘤的发病率随着年龄的增加，女性患者的Y染色体材料。诊断后，如果成年女性患者不能接受定期随访，则应考虑对含有Y染色体物质的DSD患者立即进行预防性性腺切除术。
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, 17 alpha-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.