Huang He, Wang Chunqing, Tian Qinjie
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Clin Endocrinol (Oxf). 2017 Apr;86(4):621-627. doi: 10.1111/cen.13255. Epub 2016 Nov 10.
Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions.
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.
The tumours in DSD included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall GCTs 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 GCTs 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 GCTs. 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 GCTs. Fourteen of 17 pelvic masses found before operation was later proved malignant.
Disorders of sex development patients with Y chromosome materials have a significantly increased risk of GCTs. Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCTs 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 GCTs and monitoring. Optimal care and close follow-up are required.
具有Y染色体或Y衍生序列的表型女性性发育障碍（DSD）患者发生性腺生殖细胞肿瘤（GCT）的风险增加。本研究的目的是评估DSD患者的肿瘤风险，总结GCT患者的临床特征并提出管理建议。
回顾性分析1996年1月至2016年3月在北京协和医院诊断为DSD并接受双侧性腺切除术的292例患者的病历。评估肿瘤的组织病理学类型、风险和临床特征。
DSD患者的肿瘤包括性腺母细胞瘤、精原细胞瘤、无性细胞瘤、支持细胞瘤、卵黄囊瘤和绒毛膜癌。GCT的总体风险为15.41%，46，XY单纯性腺发育不全（46，XY PGD）的风险最高，达23.33%，其次是完全性雄激素不敏感综合征（CAIS）。混合性性腺发育不全（GD）或46，XY 17α-羟化酶/17，20-裂解酶缺乏症（46，XY 17 OHD）的风险<10%，5例睾丸退化患者未发现肿瘤。肿瘤诊断时的年龄（岁）范围为11至29岁[18（15，21）岁]。患有肿瘤的雄激素不敏感综合征（AIS）患者的中位年龄相对较晚[19（18，24）岁]，而46，XY PGD[17（15，20）岁]和混合性GD[15（15，17）岁]的GCT发生在青春期。性激素水平一般不受性腺GCT的影响。术前肿瘤标志物阳性率为58.82%（10/17）。6例无性细胞瘤/精原细胞瘤患者观察到乳酸脱氢酶（LDH）升高。卵黄囊瘤或绒毛膜癌患者分别观察到α-甲胎蛋白（AFP）或人绒毛膜促性腺激素（hCG）显著升高。7例GCT患者观察到轻度高雄激素血症。术前发现的17个盆腔肿块中有14个后来被证实为恶性肿瘤。
具有Y染色体物质的性发育障碍患者发生GCTs的风险显著增加。性腺母细胞瘤和无性细胞瘤/精原细胞瘤是最常见的GCTs类型，46，XY PGD的肿瘤发生率和恶性风险最高。AIS可将双侧性腺切除术推迟至青春期或青春期后进行，而其他条索状性腺患者一旦确诊应尽快手术。特定的血清肿瘤标志物可用于预测GCTs和监测。需要最佳的护理和密切随访。
