常染色体多态性与男性不育的临床资料分析

目的:探讨常染色体多态性对男性不育的影响。方法:对647例男性不育患者进行染色体核型分析。结果:647例男性不育患者中常染色体多态性21例,占全部受检者的3.25%,高于普通群体染色体多态性发生率(2.6%)。21例常染色体多态性中9号染色体臂间倒位10例,占1.55%(10/647);1、9、16号染色体次缢痕增长11例,占1.70%(11/647)。结论:常染色体多态性可能与男性生殖异常有关,尤其是9号染色体臂间倒位,1、9、16号染色体次缢痕增长,应引起临床医生高度重视。     

染色体多态性与男性生殖异常关系探讨

目的研究染色体多态性与男性生殖异常的关系。方法对2009年1月-2016年1月在该院门诊就诊的2 482例男性遗传咨询者行外周血染色体核型分析和精子染色质结构分析。结果在2 482例男性遗传咨询者中检出染色体多态性核型54例,占2.18%。根据多态性变异分4种类型:1D/G组随体增加6例,占多态性的11.11%;2次缢痕增加(包括1、9、16号染色体)8例,占多态性的14.81%;3 9号染色体臂间倒位9例,占多态性的16.67%;4Y染色体多态性31例,占多态性的57.41%。1 424例不育男性遗传咨询者中检出染色体多态性核型48例,占3.37%;在456例无精症男性遗传咨询者中检出染色体多态性核型8例,占1.62%;在1 526例男性少精弱精遗传咨询者中检出染色体多态性核型32例,占2.10%。Y染色体多态性组男性DNA碎片率和精子畸形率明显高于正常对照组,其双链DNA率、精子密度和精子活率明显低于正常对照组,差异具有统计学意义(P0.05),常染色体多态性组与正常对照组无差异。结论染色体多态性可以导致男性生殖异常,对有不育病史的男性应进行外周血染色体检查和染色质结构分析。     

染色体多态性的生育异常临床效应分析

[目的]探讨染色体多态性与生育异常临床效应之间的关系. [方法]以有异常生育史的个体作为患者组,无异常生育史的正常个体作为正常对照组,通过培养外周血淋巴细胞、常规染色体制备、G显带技术进行核型分析,判断两组中各种染色体多态性的检出率有无差异.[结果]患者组染色体多态性的检出率高于正常组,但两组间染色体多态性检出率的差异不具有统计学意义. [结论]尚不能认为染色体多态性与个体异常生育史之间有必然的联系.     

长春地区1296例不育男性染色体分析

目的:研究染色体异常与男性不育之间的关系。方法:对在2007年3月~2010年3月期间,1 296例因不育前来吉林大学第一医院生殖中心进行遗传咨询的不育患者的外周血进行细胞培养(采用一生骏外周血淋巴细胞培养基),G显带核型分析。结果:1 296例患者中染色体核型异常120例,检出率为9.3%。其中性染色体异常98例,占咨询者的7.6%;常染色体异常22例,占咨询者的1.7%。120例染色体异常患者的核型分析结果显示,91例为47,XXY(其中3例为嵌合:2例核型为46,XY/47,XXY,1例核型为46,XX/47,XXY),所占的比例最多。结论:研究中不育男性的染色体异常比例与国内外报道相一致,且不育患者中染色体异常的比率高于正常人群。因此推荐不育男性进行常规的细胞遗传学检查,尤其是求助于卵胞浆内单精子注射技术(ICSI)等辅助生殖技术的患者。     

男性不育与Y染色体微缺失的关系

目的:探讨男性不育患者的遗传学因素。方法:应用多重PCR的方法对378例男性不育患者Y染色体上的15个STS位点(包括AZFa区:SY82、SY84、SY86;AZFb区:SY124、SY127、SY128、SY133、SY134、SY143;AZFc区:SY239、SY242、SY254、SY255;AZFd区:SY145、SY152)进行检测。结果:378例男性不育患者共检出Y染色体微缺失35例,AZF区段的总缺失率为9.26%(35/378),其中无精子症患者组的AZF缺失率为13.56%(16/118),严重少弱精子症患者组的AZF缺失率为9.63%(13/135),少精子症患者组的AZF缺失率为4.80%(6/125)。结论:在引起男性不育症的原因中,Y染色体微缺失是最重要的遗传性因素之一,男性不育症患者在进行临床治疗或辅助生殖前进行AZF检测,可以减少各种不必要的治疗带来的身心健康问题。     

男性不育患者2406例染色体异常分析

目的:研究染色体异常和基因突变与男性不育的关系。方法:对2008年3月～2010年3月来本院就诊的男性不育患者2406例,按照WHO精液分析诊断标准分组进行染色体核型分析和无精症因子(AZF)基因缺失分析。结果:非梗阻性无精子症1992例,隐匿精子症216例,严重少弱畸精子症76例,少弱畸精子症122例;各组染色体异常率分别为26.46%、36.57%、27.63%、18.85%,其中常染色体异常率分别为4.17%、20.83%、18.42%、18.85%,性染色体异常率分别为22.29%、15.74%、9.21%和1.64%。核型分析结果显示非梗阻性无精子症组克氏症患者占15.56%。AZF基因缺失检测结果显示非梗阻性无精子症、隐匿精子症和严重少弱畸精子症各组AZF基因缺失异常率分别为4.82%、12.5%、9.21%。结论:男性不育患者染色体异常率高于正常人群,AZF基因缺失异常率高于正常人群,对男性不育诊断时有必要进行常规遗传学检查,尤其对是隐匿精子症和严重少弱畸精子症患者在选择卵细胞浆内单精子注射技术时进行遗传学检查。     

人类男性Y染色体变异对男性生育力影响的临床分析

目的:探讨Y染色体异常对男性生育能力的影响。方法:对因不育而就诊的4 238例男性患者进行G显带核型分析。结果:共检出Y染色体异常核型550例,占全部被检者12．98％,其中大Y 染色体异常497例;小Y染色体21例;倒位染色体13例;缺失Y染色体12例;47,XYY 4例;45,XO／ 46,XY嵌合体3例;48,XXYY 1例;环状Y染色体1例;Y染色体的平衡易位46,X,t(Y;17)(q12; q25)1例、46,X,t(Y;3)(q11;p11)1例、46,X,t(Y;14)(q12;q22)1例和1例46,X,t(Y;15) (p11;q13)。结论:Y染色体数目与形态结构的异常对男性生育能力有重要影响。     

男性不育患者Y染色体AZF微缺失和外周血染色体核型分析

目的:分析男性不育患者中Y染色体AZF微缺失和染色体核型异常发生情况.方法:回顾性分析2014年7月-2021年7月来本院诊治的392例少精症或无精症患者,采用多重PCR技术进行Y染色体AZF微缺失检测,同时制备外周血染色体并进行核型分析.结果:392例不育男性中共检出27例(6.9％)不同程度AZF微缺失,其中AZ-...     

染色体多态性与不孕不育及自然流产的关系研究

目的探讨染色体多态性与不孕不育及自然流产的关系。方法选取我院收治的1 540例不孕不育及自然流产患者,同时以至少一胎足月分娩的无异常生育史的人群作为对照组,对各组进行外周血淋巴细胞培养,G显带及核型分析。结果在不孕不育及自然流产组中,染色体多态性检出182例,发生率为11.82%;对照组染色体多态性检出10例,发生率为1.67%。不孕不育及自然流产组中染色体多态性检出率明显高于对照组,两组比较差异有显著统计学意义(P<0.01)。结论染色体多态性与不孕不育及自然流产存在一定的相关性,临床应予以重视。     

Y染色体微缺失与男性不育临床表现的关系

Y染色体是最短的近端着丝粒染色体,是男性特有的染色体。1976年,研究发现Y染色体长臂上存在与精子发生相关的基因,人们把这一区域称作无精子因子,亦称AZF区,从而改变了传统观念对Y染色体功能单一的认识,开创了Y染色体功能研究新领域。1996年将AZF区划分为3个区:AZFa、AZFb、AZF     

CLOCK基因多态性与原发性男性不育相关性

目的 探讨生物钟基因（CLOCK）多态性与原发性男性不育之间的关系。方法 以2005-2010年就诊于江苏省南京医科大学附属医院男性不育门诊的478例患者为病例组,同时选择就诊于其他门诊的有正常生育史的194名男性为对照组。取5 mL外周血检测血清睾酮（T）和促卵泡激素（FSH）水平,PCR检测CLOCK的rs1801260、rs3817444和rs3749474位点。结果 在rs3749474位点携带TT基因型和TC+CC基因型的受试者中病例组血清FSH浓度明显高于对照组（P=0.0266）,携带CC基因型的受试者中病例组血清T浓度明显高于对照组（P=0.0466）;在rs1801260位点携带AA基因型的受试者中病例组血清FSH和T浓度均明显高于对照组（P分别为0.0016、0.0451）;在rs3817444位点携带CC基因型和CA+AA基因型的受试者中病例组血清FSH浓度均明显高于对照组（P分别为0.0016、0.0430）。结论 CLOCK基因多态性与原发性男性不育存在关联。     

Treatment of male infertility

Male factor infertility is a general term that describes a situation in which the inability to conceive is associated with an alteration identified in the male partner. This dysfunction may be associated with low sperm concentration (oligozoospermia), poor sperm motility (asthenozoospermia) or abnormal sperm morphology (teratozoospermia); however, generally, a disturbance of all these variables, oligoasthenoteratozoospermia, is mostly frequent in male subfertility. For many andrological disorders, it is not possible to find a reasonable cause and various uncontrolled treatments have been applied to infertile men, often just on an empirical basis. More recently, after the explosive development of modern assisted reproduction techniques (ARTs), feasible with a single spermatozoon [intracytoplasmic sperm injection (ICSI)], the treatment of male infertility has received new meaning and andrologists are no longer expected to achieve a quantitative increase in sperm number but are instead asked to improve the fertility potential of the single sperm cell in order to achieve better results in both in vitro fertilization and ICSI. Additional prospective studies are needed to better understand the possible role of therapy in ART candidate patients.     

Case-control study of leatherwork and male infertility

OBJECTIVES—To test the hypothesis that leatherwork is associated with male infertility mediated through the development of oligozoospermia. The basis of any association was postulated, at the outset, to be with exposure to the solvents used in leatherwork.
METHODS—All new referrals with infertility presenting in Leicestershire hospital clinics between November 1988 and September 1992 and Kettering District General Hospital from August 1990 were eligible to participate; 88.5% agreed to be interviewed. Exposure to leatherwork and work with solvents was defined by job title. Comparisons were made with fertile controls and in an analysis within men from infertile couples with oligozoospermia as the primary outcome. Effects on sperm motility and deformity were investigated secondarily. Analyses used logistic regression for binary outcomes and multilevel modelling for continuous outcomes.
RESULTS—1906 men were interviewed. Compared with the fertile controls the men from infertile couples were 1.10 times (95% confidence interval (95% CI) 0.46 to 2.63; p=0.99) more likely to be leatherworkers and 1.73 times (95% CI 1.26 to 2.38; p<0.001) more likely to work with solvents. Compared with other men, leatherworkers were 1.20 times (95% CI 0.43 to 3.33; p=0.73) more likely to present with oligozoospermia and 1.65 times (95% CI 0.37 to 7.30; p=0.51) more likely to present with teratozoospermia. Being a leatherworker was associated with only a 6% reduction in sperm concentration; motility and deformity were similarly unaffected by this exposure. Work with solvents did not statistically, nor clinically, increase the risk of oligozoospermia, teratozoospermia, or asthenozoospermia.
CONCLUSIONS—There was little evidence to support the hypothesis that leatherwork is associated with an increased risk of presenting with infertility or oligozoospermia. There was limited evidence that leatherwork is a risk factor for teratozoospermia. Workers with solvents were at an increased risk of presenting with infertility, although this was not mediated through effects on standard measures of semen quality; this finding merits further investigation.


Keywords: leatherwork; solvents; male infertility     

Occupational exposure to solvents and male infertility

OBJECTIVES—To determine whether, in a case-referent study of infertility patients, cases with low motile sperm count were more likely than referents to have had exposure to organic solvents.
METHODS—Occupations of men attending fertility clinics in Canada were assigned codes reflecting probable exposure to organic solvents, at four grades of intensity, using a job exposure matrix previously developed. A case referent design was used, with cases being defined as men with <12×10⁶/ml motile sperm. Information from 656 men in manual work attending a single clinic in Montreal in 1972-91 was used for the main study. A separate analysis was conducted with information for 574 men in manual work attending 10 further clinics across Canada in 1984-7.
RESULTS—In the Montreal series a significant association was found between intensity of exposure to solvents and clinical findings of <12×10⁶/ml motile sperm. Odds ratios (ORs), after allowing for confounding, were 2.07 (95% confidence interval (95% CI) 1.24 to 3.44) for moderate exposure to solvents and 3.83 (95% CI 1.37 to 10.65) for high exposure. In the second series of 568 men, the effect was confirmed at high exposure to solvents (OR 2.90, 95% CI 1.01 to 8.34) but not at moderate exposure (OR 1.01, 95% CI 0.53 to 1.92).
CONCLUSIONS—Exposure to organic solvents is common both at work and in recreational pursuits. The results of this study suggest that efforts should be made to identify the compounds hazardous to male fertility, and if the risk is confirmed, to regulate their use.


Keywords: infertility; solvents; male manual workers     

The social construction of male infertility: a qualitative questionnaire study of men with a male factor infertility diagnosis

Although recent research has highlighted the distressing impact of infertility for men, fertility issues are still routinely seen as a ‘women's issue’ – even when male factor infertility is highlighted. This article reports findings from a qualitative questionnaire study focusing on a sample of men with a male factor infertility diagnosis; an under-researched and marginalised group in the context of reproductive medicine. Our analysis suggests that male factor infertility is viewed by men as a failure of masculinity, as stigmatising and silencing, and as an isolating and traumatic experience. It is also clear that these themes are shaped by wider societal discourses which present men as (unproblematically) fertile, uninvested in parenthood and stoic in their approach to emotional distress. Such norms also ensure that reproduction continues to be presented as a ‘women's issue’ which burdens women and marginalises men. In understanding male factor infertility experiences, the damaging nature of the social construction of male fertility is then more clearly illuminated.     

The search for SNPs,CNVs, and epigenetic variants associated with the complex disease of male infertility

Understanding the genetic basis of idiopathic male infertility has long been the focus of many researchers. Numerous recent studies have attempted to identify relevant single nucleotide polymorphisms (SNPs) through medical re-sequencing studies in which candidate genes are sequenced in large numbers of cases and controls in the search for risk or causative polymorphisms. Two major characteristics have limited the utility of the re-sequencing studies. First, reported SNPs have only accounted for a small percentage of idiopathic male infertility. Second, SNPs reported to have an association with male infertility based on gene re-sequencing studies often fail validation in follow-up studies. Recent advances in the tools available for genetic studies have enabled interrogation of the entire genome in search of common, and more recently, rare variants. In this review, we discuss the progress of studies on genetic and epigenetic variants of male infertility as well as future directions that we predict will be the most productive in identifying the genetic basis for male factor infertility based on our current state of knowledge in this field as well as lessons learned about the genetic basis for complex diseases from other disease models.     

The controversial efficacy of vitamin E for human male infertility

Vitamin E (VE) is major lipophilic chain-breaking antioxidant which protects tissue polyunsaturated fatty acids (PUFA) against peroxidation, a property that could be beneficial in the male reproductive physiology because the membranes of germ cells and spermatozoa are very sensitive to oxidation because of their high content of PUFA. Some of the available data on the efficacy of VE as an oral drug for male infertility or as an additive during in vitro manipulations of spermatozoa were reviewed here, observing that they are often contradictory, possibly because: (1) antioxidant therapy could be ineffective in certain studies not concentrated on men in whom oxidative stress is implicated as an infertility factor, and (2) the VE antioxidant therapy is a double-edged sword strictly depending on the dosage or the in vitro concentration of the vitamin. Thus, further laboratory and clinical studies with better-defined experimental conditions should be performed to establish the in vitro and in vivo efficacy of VE for human male infertility.     

Genetic variation of hormone sensitive lipase and male infertility

Hormone sensitive lipase (HSL) is a triacylglycerol hydrolase and cholesterol esterase that is essential for male fertility. The aim of the study was to investigate the distribution of C-60G polymorphism of HSL gene and alleles in fertile and infertile males living in Hamadan, Iran. In addition, lipase activity was determined in these two groups. The HSL genotype was determined by PCR-RFLP and the lipase activity was detected by turbidometery in 164 fertile and 169 infertile males. A significant difference in HSL genotype distribution was observed between groups (χ2 = 8.1, df = 2, p =? 0.017). Infertile males showed a higher percentage of CC as well as a lower percentage of CG and GG genotype compared with fertile individuals. The presence of CC to CG?+?GG genotype conferred a 2.4-fold risk for male infertility (odds ratio?=?2.4 (1.3 - 4.5), p?=?0.006). In addition, lipase activity was remarkably higher (p < 0.001) in fertile males (94 ± 66 U/L) compared to the infertile subjects (50.6 ± 49 U/L). This suggests that genetic variation of HSL may be a risk factor for male infertility.     

男性泌尿生殖道线索细胞的调查及与不育相关性研究

目的探讨精液中线索细胞与男性不育的关系。方法对957例患者精液,直接涂片显微镜下查找线索细胞,阳性者再作革兰染色及细菌培养确证,同时进行精液参数分析。结果精液线索细胞检出率为23．5％（225／957）与细菌培养符合率为95．1％、精子活率、精子a级、a＋b级活力、密度及低渗肿胀率明显低于阴性组及正常对照组,而精子畸形率、精液pH值明显高于阴性组和正常对照组（P〈0．01）。30例不育者配偶依据Amsel诊断标准确诊为细菌性阴道病（Bv）28例（93．3％）。结论Bv病原体可通过性生活侵犯到男性泌尿生殖道各部位,影响精液质量,是不育的重要因素之一,并黏附于鳞状上皮形成线索细胞而对加德纳菌及短小球杆菌感染致不育的判断具有独特价值。