46,XY单纯性腺发育不全合并性腺肿瘤5例分析  

Analysis of 5cases of 46,XY pure gonadal dysgenesis complicated with tumors

作　　者：楼伟珍[1] 田秦杰[1] 孙爱军[1] 陈蓉[1] 郁琦[1] 万希润[1] 潘凌娅 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730

出　　处：《生殖医学杂志》2016年第9期771-775,共5页Journal of Reproductive Medicine

摘　　要：目的 探讨46,XY单纯性腺发育不全（PGD）合并性腺肿瘤的临床特点、诊断和治疗。方法 北京协和医院妇产科2009年1月至2013年8月收治且行手术治疗的PGD病例16例,其中合并性腺肿瘤病例5例,对其临床病例资料进行回顾性分析。结果 PGD的性腺肿瘤发生率为31.2%（5/16）,肿瘤类型为性腺母细胞瘤（1例）、精原细胞瘤合并性腺母细胞瘤（2例）、无性细胞瘤（1例）及绒毛膜上皮癌（1例）,平均发现肿瘤年龄（16.0±2.9）岁（13~20岁）,临床表现包括原发性闭经（4例）,无阴腋毛、乳房不发育（2例）,不同程度阴腋毛或乳房发育（3例）,其中3例以性腺肿瘤为首要表现。4例血清卵泡刺激素（FSH）水平升高明显（范围44.7~161.9U/L）,而肿瘤标记物包括甲胎蛋白（AFP）、糖链抗原125（CA125）、β-HCG水平正常。所有病例均手术切除双侧性腺：2例为初次手术后诊断为PGD,行再次手术切除条索性腺;1例术前诊断,肿瘤分期手术同时行双侧性腺切除;另2例行性腺切除时发现性腺肿瘤。结论 46,XY单纯性腺发育不全的性腺发生肿瘤风险高,一经诊断应尽早预防性手术切除双侧性腺;青少年女性生殖细胞肿瘤患者存在第二性征不发育或发育欠佳、原发闭经或FSH水平异常升高时,应及时进行染色体核型分析明确是否为PGD,以减少不必要的再次手术风险。Objective： To investigate the clinical presentations, diagnosis and therapy for 4G, XY pure gonadal dysgenesis（PGD） complicated with tumors. Methods： A total of IG patients of PGD underwent surgery in Peking Union Medical College Hospital from Jan 2009 to Aug 2013. Among them, 5 patients were complicated gonadal tumor and their clinical manifestations were analyzed. Results： The gonadal tumor risk of PGD was 31.2% （5/16） Tumors profiles included gonadoblastoma （n = 1 ）, seminoma coexist with gonadoblastoma （n =2）, dysgerminoma （n =1 ）, choriocarcinoma （n=1）. The average age at diagnosis was 1（3.0±2.9 years （13-20 years）. Four patients manifested with primary amenorrhea. Pubertal development （female armpit hair,breast development） was absent in 2 patients, while varying degrees of development was present in 3 patients. Three patients presented gonadal tumors at the first sight. FSH levels were very high （range from 44.7 to 161.9 U/L） in 4 patients,while tumor markers including alfa fetoprotein （AFP）, cancer antigen 125 （CA125） and β-HCG were in normal range. Surgical removal of both gonads were in all patients. Two patients diagnosed as PGD postoperatively received the second surgical procedures to remove the remained gonad. Conclusions. The patients with PGD have a high risks of gonadal malignancy. Upon diagnosesprophylactic gonadectomies should be considered. In the case of a suspected ovarian tumor, with delayed pubertal development, primary amenorrhea and elevated FSH level, karyotype analysis should be prompted be{ore surgery in order to avoid multiple surgical procedures.

关 键 词：46 XY 单纯性腺发育不全 性腺母细胞瘤 无性细胞瘤 

分 类 号：R[医药卫生]