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目的:探讨Klinefelter’s综合征(Klinefelter’s syndrome,KFS)伴无精子症患者临床表型和遗传学特征。方法:收集9例KFS伴无精子症患者和8例正常生育男性组临床资料,精液分析依照世界卫生组织指南操作,外周血淋巴细胞按常规染色体培养及G和Q显带行核型分析,对KFS患者X、Y染色体行荧光原位杂交技术(fluorescence in situ hybridization,FISH)检测确认。Y染色体微缺失选取EAA和EMQN推荐6个Y染色体特异标签序列位点行Y染色体AZFa、AZFb和AZFc区微缺失检查。卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)采用BECKMAN ACCESS化学发光法检测。结果:9例患者均以不育就诊,表现为身材高大,喉结不明显,阴毛分布正常或稀少,阴茎正常或短小,除1例伴有Y染色体微缺失者睾丸质地软外,余双侧睾丸质地较硬,睾丸体积<4 ml,精液常规检查离心未见精子,9例患者FSH、LH明显升高,T水平正常值低限或偏低。9例患者染色体核型和FISH检测均为47,XXY,行Y染色体Q带染色均为阳性,其中1例Y染色体偏小FISH示存在缺失,Y染色体微缺失检测显示AZFa、b、c区缺失,其余未检测到缺失,缺失发生率11.11%。8例正常生育男性组染色体核型正常、Y染色体未检测到微缺失。结论:KFS具有典型高促性腺功能低下型性腺功能减退症特点,KFS患者伴有潜在Y染色体微缺失可能,Y染色体微缺失不是KFS患者无精子的主要原因,KFS患者行Y染色体微缺失筛查对于了解病情和行辅助生殖技术是必要的。
Objective: To investigate the clinical phenotype and genetics of Klinefelter’s syndrome (KFS) with azoospermia. Methods: The clinical data of 9 patients with KFS accompanied by azoospermia and 8 normal fertility men were collected. Semen analysis was performed according to WHO guidelines. Peripheral blood lymphocytes were cultured by routine chromosomes and karyotypes were analyzed by G and Q. KFS patients X, Y chromosome fluorescence in situ hybridization (fluorescence in situ hybridization, FISH) test confirmed. Y chromosome microdeletions selected EAA and EMQN recommended six Y chromosome specific tag sequence loci Y chromosome AZFa, AZFb and AZFc microdeletion examination. Follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone (T) were detected by BECKMAN ACCESS chemiluminescence method. Results: Nine patients were treated with infertility, showing tall, obvious Adam’s apple, pubic hair distribution normal or sparse, penis normal or short, in addition to a case of Y chromosome with microdeletions were testicle texture soft, I testis Hard texture, testicular volume <4 ml, semen routine examination of the sperm were not centrifuged, 9 cases of FSH, LH was significantly increased, T level lower limit of normal or low. Nine cases of chromosome karyotype and FISH detection were 47, XXY, line Y chromosome Q-band staining were positive, including 1 Y chromosome smaller FISH showed the absence of Y chromosome microdeletion test showed deletion of AZFa, b, c , The rest did not detect the loss, the incidence of 11.11%. The chromosomal karyotypes were normal in 8 normal fertile men and no deletions were detected in Y chromosome. Conclusion: KFS has the characteristics of hypogonadism with hypogonadism, KFS patients with potential Y chromosome microdeletions, Y chromosome microdeletion is not the main reason of KFS patients without sperm, KFS patients with Y chromosome microdeletion screening It is necessary to understand the condition and perform assisted reproductive technology.