罕见47,XX,del(Y)(q11.2)/46,XX嵌合型克氏征1例报告并文献复习  

Klinefelter syndrome with rare 47, XX, del(Y)(q11.2)/46,XX mosaicism: a case report and literatures review

作　　者：许传 汤冬冬[1,2] 耿浩 叶四云 贺小进[1,2] 张贤生 Xu Chuan;Tang Dongdong;Geng Hao;Ye Siyun;He Xiaojin;Zhang Xiansheng(Re productive Medicine Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Anhui Medical University,Hefei 230088,Anhui,China;Anhui Province Key Laboratory of Reproductive Health and Genetics,Hefei 230088.Anhui.China;Department of Urology,the First Affiliated Hospital of Anhui Medical University y Hefei 230088,Anhui,Chinas)

机构地区：[1]安徽医科大学第一附属医院妇产科生殖医学中心,安徽合肥230088 [2]安徽医科大学生殖健康与遗传安徽省重点实验室,安徽合肥230088 [3]安徽医科大学第一附属医院泌尿外科,安徽合肥230088

出　　处：《中国男科学杂志》2021年第3期53-55,92,共4页Chinese Journal of Andrology

摘　　要：目的探讨罕见47,XX,del(Y)(q11.2)/46,XX嵌合型克氏征的诊断和治疗经验。方法我们报告1例27岁男性患者,因"婚后未避孕2年未育"就诊。3次离心后精液分析提示无精子症,我们进一步对患者的性激素、阴囊腹、盆腔超声、染色体核型及Y染色体微缺失进行了检查。结果(1)性激素、阴囊腹、盆腔超声、染色体核型及Y染色体微缺失检查:促卵泡生成素(FSH)(44.78mIU/ml)、促黄体生成素(LH)(22.19 m IU/ml)明显升高,睾酮(T)(5.22nmol/L)低于正常范围;超声检查示双侧睾丸体积减小(约2ml),余无异常;2次外周血染色体核型分析(400带,G显带,30个细胞)示:46,XX;Y染色体微缺失检查6个经典位点(s Y84、s Y86、s Y127、s Y134、s Y254、s Y255)及SRY基因均存在。(2)进一步分析其父母核型,父亲:46,X,del(Y)(q11.2)[21]/45,X[17]/46,X,Yqh-[2],母亲:46,XX,1qh+;(3)鉴于其父亲存在染色体嵌合,再次增加患者核型分析细胞数至100个,证实患者核型为47,XX,del(Y)(q11.2)[15]/46,XX[85],属罕见的嵌合型克氏征。结论染色体核型异常是男性不育症的重要病因,但临床常规使用的G显带法染色体核型分析并不能充分发现低比例染色体嵌合的存在,详细的家系分析结合Y染色体微缺失检查对于鉴别46,XX男性性反转综合征和低比例嵌合型克氏征十分必要。Objective To summarize and analyze the diagnosis and treatment of Klinefelter syndrome with rare 47,XX,del(Y)(q11.2)/46,XXmosaicism.Methods A 27-year-old male patient with 2-year infertility historywas diagnosedasazoospermia by 3 separated semen analysis.The levels of sex hormones,chromosome karyotype and Y chromosome microdeletions were examined,andscrotal and abdominal pelvic ultrasound was performed.Results(1)The levels ofFSH(44.78 mIU/ml)andLH(22.19 m IU/ml)weresignificantlyincreasedand the level ofT(5.22 nmol/L)was decreased;Scrotal ultrasoundanalysisshowed that testicular volume wasreduced(approximate 2 ml)andno other obvious lesions were found;Two independent cytogenetic analysesexhibited 46,XX karyotype(400 bands,G-banding,30 cells).Six STSs(s Y84、s Y86、s Y127、s Y134、s Y254、s Y255)and SRY genewere all found,indicating no Y chromosome microdeletions.(2)Parents’karyotypeswere identified as46,X,del(Y)(q11.2)[21]/45,X[17]/46,X,Yqh-[2](father)and 46,XX,1 qh+(mother).(3)Because his father had mosaicism karyotype,the patient’s karyotype was identified againasthe 47,XX,del(Y)(q11.2)[15]/46,XX[85]mosaicism karyotype by testing 100 cells.The patients was a rare mosaicismKlinefelter syndrome.Conclusion Chromosome abnormality is an important cause of male infertility.Patients with low-level mosaicism are easily missed by routine karyotype-analysis.Detailed pedigree analysis combined with Y chromosome microdeletionsexamination isrequired for the differentialdiagnosis of 46,XXtesticular disorder of sex development and low-level mosaicism Klinefelter syndrome.

关 键 词：无精子症 46 XX性发育睾丸疾病 克氏征 

分 类 号：R698.2[医药卫生—泌尿科学] R596.1[医药卫生—外科学]