【摘 要】
:
Objective: To report our successful experience on sperm retrieval in ejaculate of nonmosaic Klinefelters syndrome (KS) patients with semen cytology examination.To describe clinical parameters of KS pa
论文部分内容阅读
Objective: To report our successful experience on sperm retrieval in ejaculate of nonmosaic Klinefelters syndrome (KS) patients with semen cytology examination.To describe clinical parameters of KS patients with sperm compared to without sperm.Methods: A total of 151 patients were proven to suffer from Klinefelters syndrome by chromosomal analysis using G-banding.The semen samples were underwent the semen analysis and semen cytology examination.Correlation of patient clinical characteristics: age, testicular volume, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T) levels were assessed for sperm recovery in ejaculate.Results: We succeeded in obtaining spermatozoa in 10 patients (10/151, 6.6%) with semen analysis.After being underwent semen cytology examination, a total of 32 patients (32/151, 21.2%) were found to have sperm or germ cell in ejaculate.The patients with successful sperm retrieval were significantly younger (27.1±3.7 yr) than those with failed attempt (28.9±34.2 yr).The mean serum testosterone level and the mean T/LH ratio of KS patients with successful sperm retrieval were significantly higher than men with sperm and in those without sperm (Testosterone: 3.2±2.1 ng/mL vs 2.7±1.5 ng/mL; T/LH ratio: 0.2.±0.3 vs 0.1±-0.1).Conclusion: semen cytology examination should be performed on identifying sperm and germ cell in ejaculate of KS patients, if no sperm is detected after traditional semen analysis.Serum testosterone level and T/LH ratio reveal an association between impaired Leydig-cell function and impaired spermatogenesis in KS males.We suggest KS patients should be accepted earlier diagnosis and treatment.
其他文献
目的 验证侵袭性牙周炎是否和特定的线粒体基因多态性或点突变相关.方法 本研究根据牙周疾病和状况的国际新分类(1999)纳入了30例侵袭性牙周炎者和30例健康对照者.提取血细胞基因组DNA,采用22对引物对血细胞的线粒体基因编码区进行扩增、测序,将测序结果和修订后的剑桥参考序列进行比对.比对后有6个多态性位点被纳入统计学分析,用卡方检验比较侵袭组和对照组间多态性位点的分布频率,进而用logistic
目的及背景 杜氏肌营养不良症(Duchenne muscular dystrophy,DMD)的发病率高且病情呈残酷的致死性进展,通过产前诊断杜绝患儿出生,是目前减少出生缺陷有效的方法.由于DMD致病基因庞大且临床背景复杂,采用单一的实验方法,进行检测,容易漏检,无法满足产前诊断的要求.本文针对不同临床背景的孕妇,尝试多种检测手段不同方案的组合,建立DMD的个体化产前诊断方案,降低人群的发病率.材
目的 通过对实施妊娠中期羊水细胞检测孕妇的指征及结果的分析,探讨本地区羊水细胞检测的临床应用价值.方法 回顾性分析412例进行孕中期羊膜腔穿刺并收集羊水细胞进行检测的孕妇的病历资料,分析检测的指征及结果.所有病例均进行了羊水细胞核型分析;16例需进行地中海贫血产前诊断的进行了地中海贫血基因产前诊断.结果 412例孕妇中,检测指征按由高到低顺序依次为高龄孕妇;血清学筛查高危;地中海贫血基因携带者;非
目的 探讨传统细胞遗传学技术联合SNP-array(Single Nucleotide Polymorphisms array,SNP-array)在识别胎儿微小额外标记染色体(supernumerary marker chromosome,sSMC)致病性中的临床应用价值。方法 通过常规G显带技术分析胎儿染色体核型,针对发现的sSMC,应用C显带技术分析sSMC,如果sSMC非异染色质,进一步进
Objective: To determine the diagnostic accuracy, the validity, the current limitations and possible solutions of fetal RhD genotyping from maternal blood based on the existing English-written studies.
目的:通过对3002例有不良生育史;原发继发不孕症经妇科、生殖中心、遗传咨询门诊女性患者进行染色体核型分析,探讨染色体全自动扫描仪在Turner综合征低比例嵌合体核型检出率.方法:取患者外周血进行淋巴细胞培养,常规染色体G显带技术,结合自动扫描平台,设定扫描2张片80个中期分裂相,分析计数20~30个中期分裂相,分析5个核型,有异常者分析计数100个核型.结果:3002例患者通过扫描系统分析检出T
Objective: To compare the subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss (RPL) associated with and without chromosome abnormalities.Methods: A retrospective coh
2013年将迎来国际"人类基因组计划(HGP)"正式完成十周年.HGP催生了一门新的学科——基因组学.基因组学的发展将进一步揭示人类基因组的进化特别是那些与适应性相关的基因的进化;揭示人类基因组的变异特别是那些与疾病相关的变异;揭示人体肠道微生物与疾病的关系.
Objective: To investigate the frequencies of AZF microdeletions in 137 infertile males with azoospermia and severe oligozoospermia from Jilin province of China and analyze the relationship between the
Objective: To determine the frequencies and the characteristics of Y chromosome microdeletion in infertile males from northeastern china in order to perform appropriate therapeutic choices.Methods: A