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.

Chinese abstract

本研究的主要目的是通过大样本研究评估有性发育障碍的成年女性患性腺恶性肿瘤的风险。这项回顾性观察研究从1992年7月到2015年3月，202个合并性发育障碍的女性被纳入组。对于不同类型的DSD患者肿瘤的风险进行了测量。我们发现性腺恶性肿瘤的总体风险发生率是18.3%（37/202）。肿瘤类型包括：性腺母细胞瘤（n=11），精原细胞瘤（n=8），无性细胞瘤（n=5），绒癌（n=1），滋养细胞肿瘤（n=11）和间质细胞瘤（n=1）。性腺恶性肿瘤中有完全雄激素不敏感综合征（CAIS）、单纯46、XY性腺发育不良、45X/46XY混合的性腺发育不良、17α羟化酶/17，20-裂解酶缺乏和的部分雄激素不敏感综合征的发病率分别为27/1%（13/48）、22.4（15/67）、10.9% (5/46), 10% (2/20) 、 9.5% (2/21)。我们的结果提示性腺恶性肿瘤的发病率随着伴有Y染色体女性年龄的增加而增加。对于诊断明确的伴有Y染色体性发育障碍的成年女性患者，如果不能进行规律性的随访建议立即行预防性性腺切除术。

• Germ cell tumors
• gonadal malignancy
• gonadectomy
• sex development disorder
• Y chromosome

Declaration of interest

The authors report no conflicts of interests.