Turner综合征合并性腺生殖细胞恶性肿瘤临床特征分析——附2例病例分析  

Clinical feature analysis of Turner syndrome patients with gonadal germ cell malignant tumors

作　　者：黄禾[1] 田秦杰[1] 

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11期957-961,共5页Journal of Reproductive Medicine

摘　　要：目的总结Turner综合征(TS)合并性腺生殖细胞恶性肿瘤的临床特征,探讨其疾病诊治和管理。方法分析2例就诊于北京协和医院妇产科的TS合并性腺生殖细胞恶性肿瘤病例。结果患者均有典型的TS临床表现,发现性腺恶性肿瘤,分别为无性细胞瘤和卵黄囊瘤,基因检测发现Y染色体基因片段,手术切除双侧附件并辅以化疗,病情稳定后恢复激素治疗。结论 TS患者可能含有Y染色体成分,该类患者性腺生殖细胞肿瘤发生风险明显增加。临床上可考虑对TS患者常规行Y染色体基因片段筛查,阳性者手术切除双侧性腺,预防肿瘤发生,从而对TS疾病更好的管理和随访。Objective： To summarize the clinical features of Turner syndrome （TS）with gonadal germ cell malignant tumors and discuss the treatment and management of the disease. Methods： The medical records of 2 TS patients with gonadal germ cell malignant tumors were reviewed and analyzed. Results： Two patients both had typical TS characteristics,while gonadal malignant tumors were found and screenings for Y-chromosome gene fragments were positive in them. They received bilateral adnexectomy and adiuvant chemotherapy. Hormone replacement therapies were provided afterward. Conclusions： TS patients may have Y chromosome fragments and the risk of gonadal tumor occurrence increased significantly. Routine Y chromosome gene fragment screening in TS patients should be considered. Bilateral adnexectomy is recommended for them.

关 键 词：TURNER综合征 Y染色体 性腺肿瘤 SRY基因 

分 类 号：R[医药卫生]