检验、细胞遗传学指标在2例46,XY单纯性腺发育不全的应用分析  

Application analysis of test and cytogenetic indexes in 2 cases 46,XY simple gonadal hypoplasia

作　　者：陈运春 王名法 曹晓强 郑春娇 许玉妮 胡建东[1] CHEN Yun-chun;WANG Ming-fa;CAO Xiao-qiang;ZHENG Chun-jiao;XU Yu-ni;HU Jian-dong(Haikou branch of Yue yang Integrative Medicine Hospital Affiliated to Shanghai University of.Traditional Chinese Medicine,Hainan Haikou,570216,China;Second Affiliated Hospital of Hainan Medical University,Hainan Haikouy 570311,China)

机构地区：[1]上海中医药大学附属岳阳中西医结合医院海口分院海口市中医医院,海口570216 [2]海南医学院第二附属医院,海口570311

出　　处：《中国优生与遗传杂志》2020年第1期53-55,F0002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的本文对2例B超异常病人行细胞遗传学检查及激素等检验,为临床鉴别诊断提供依据和思路。方法行外周血染色体细胞培养法,常规G显带染色体核型分析。并行相关性激素和肿瘤标志物等检验。结果发现2例46,XY单纯性腺发育不全:病例1伴始基子宫,总睾酮(TES):1268.00ng/dl(正常值0-73ng4/dl);病例2伴混合性生殖腺恶性肿瘤(以精原细胞瘤为主约占95%,伴卵黄囊瘤约占5%),多种肿瘤标志物(女):甲胎蛋白768.35ng/ml(正常值<10ng/ml)。结论应重视对46,XY单纯性腺发育不全者的细胞遗传学检查并结合检验结果分析,以利早期发现,避免误诊、漏诊、延误治疗,导致癌变。Objective:In this study,cytogenetic examination and hormone test were performed on 2 patients with abnormal b-ultrasonography to provide basis and ideas for clinical differential diagnosis.Methods:Peripheral blood chromosome cell culture was performed,and the karyotype of g-banding chromosome was analyzed.Correlation hormones and tumor markers were tested.Results:46,XY simple gonadal hypoplasia were found:case 1 with primordial uterus,total testosterone(TES):1268.00 ng/dl(normal value:0-73 ng/dl);Case 2 was associated with mixed gonadal malignancy(mainly spermatogonoma accounted for 95%and yolk sac tumor accounted for 5%).Multiple tumor markers(female):alpha-fetoprotein 768.35 ng/ml(normal value:<10ng/ml).Conclusion:Attention should be paid to the cytogenetic examination of 46,XY patients with simple gonadal dysplasia and the analysis of the test results,so as to facilitate early detection and avoid misdiagnosis,missed diagnosis,delayed treatment and carcinogenesis.

关 键 词：单纯性腺发育不全 细胞遗传学 生殖腺恶性肿瘤 甲胎蛋白 总睾酮 

分 类 号：R596.1[医药卫生—内科学]