少精子症、弱精子症111例的染色体分析

目的对我院2000年1月至2001年5月就诊的男性无精子、少、弱精子症患者进行病因分析.方法按WHO精液检查标准进行精液常规检查.结果查出精液质量异常者111例,其中无精症72例,染色体异常29例,占40.3%;少、弱精子症39例,染色体异常9例,占23.1%.结论染色体异常是导致男性精液质量异常、不育的重要病因之一.     

特发性无精子症少精子症患者分子遗传学及血清学的研究进展

由于生精障碍造成男性不育的因素占2%～4%,其中60%是由遗传因素造成.Y染色体微缺失与特发性无精子症少精子症关系的研究,确定了部分与生精过程相关的基因,并研究了部分基因的缺失与患者临床表现的关系.部分无精子症少精子症患者通过ICSI解决了生育问题,但已证实生精基因的缺失可传给其男性后代.因此通过对男性不育患者进行基因的检测,明确不育病因,给患者以明确的遗传咨询,指导生育是必要的.     

男性不育因素分析

目的:分析不孕不育中的男性因素。方法:收集3 777对不孕夫妇的孕产史及不孕不育病因检查结果，对男性不育患者资料进行分析，包括男性生殖专科体格检查、精液常规分析、遗传学检查等。结果:单纯男性因素不育患者1 406例，占总数的37.23％。其中无精子症在男性不育患者中占57.99％，少弱精子症及严重少弱精子症占37.34％。在无精子症及严重少弱精子症患者中，染色体异常表现有数目异常和涉及大多数染色体在内的结构异常。结论:男性因素是不孕症病因中重要的组成部分，影响男性生育的相关基因可能存在于性染色体和大部分常染色体上。     

90例少精子症及无精子症患者染色体核型分析

目的研究男性少精子症及无精子症患者与染色体核型异常的关系。方法对90例经精液常规检测,临床诊断为少精子症或无精子症的患者,抽取外周血进行淋巴细胞培养、制片、核型分析。结果 90例少精子症及无精子症患者的细胞遗传学分析中检出异常核型20例,异常检出率为22.2%。结论染色体异常是造成男性少精子症及无精子症的重要因素,对临床上少精子及无精子患者进行染色体检查非常必要。     

威海地区59例少精子症及无精子症患者的细胞遗传学分析

目的 研究男性少精子症及无精子症患者与染色体异常的关系.方法 按WHO精液检查标准进行精液常规检查,经临床诊断为少精子症及无精子症患者,抽取其外周血,常规进行淋巴细胞培养、制片、核型分析.结果 59例少精子症及无精子症患者的细胞遗传学分析中检出异常核型14例,异常检出率为23.73%.结论 染色体异常是导致少精子症及无精子症的重要原因之一,临床上应重视对该群体的细胞遗传学分析.     

男性不育患者9号染色体异常与精液常规结果关系的探讨

目的探讨男性不育患者9号染色体异常和精液常规结果之间的关系。方法对3638例男性不育症患者的精液常规检查和外周血淋巴细胞染色体结果进行回顾性分析。结果 52例男性9号染色体异常,占不育症患者的1.43%,精子密度、精子活率、A级精子、B级精子与正常对照组没有明显的区别（P〉0.05）。结论 9号染色体异常与男性精液检查结果异常没有直接的关系。     

178例男性不育患者Y染色体AZF微缺失筛查

目的探讨男性不育症患者Y染色体微缺失分子检测临床意义。方法应用多重PCR对178例不育症患者进行Y染色体AZFa、AZFb和AZFe基因微缺失检测。结果41例特发性无精症患者中有10例缺失,占24．3％;34例严重少精子症患者中有4例缺失,占11．7％;其余103例少弱精子症患者中没有检出缺失。结论在男性不育症患者中,Y染色体AZF基因微缺失是特发性无精子或严重少精子症发生的重要原因,基因检测可为正确诊断和合理治疗提供科学依据。     

Y染色体AZF基因缺失与原发性无精子症的相关性研究

原发性无精子症患者除有精子异常，精液检查发现无精子外，其余情况包括睾丸体积、内分泌功能、其他精液检查指标等均正常，即患者出现精子异常的原因不明。原发性无精子症原因极其复杂，除输精管梗阻、腮腺炎病毒感染等明确病因外，研究认为遗传缺陷是其中的重要因素之一，因此有关原发性无精子症的遗传因素分析日益受到重视。分子生物学的研究证实，人类Y染色体长臂上存在着控制精子生成的基因一无精子因子AZF，原发性无精子症患者检测到了不同比率、不同区域的AZF基因缺失，表明Y染色体AZF基因缺失与原发性无精子症密切相关。     

男性不育的遗传病因研究

目的探讨染色体结构与数目异常,以及Y染色体无精子因子AZF微缺失和AZFc区部分缺失与男性不育的关系。方法运用多重PCR检测技术对494例无精子症、严重少精子症、少精子症患者和236例精液正常已生育男性进行AZF微缺失和AZFc部分缺失检测,并对494例男性不育患者进行外周血染色体核型分析。结果在无精子症、严重少精子症和少精子症患者中染色体数目与结构异常的发生率分别为11.86%(21/177)、3.39%(6/177)、2.08%(3/144)。无精子症和严重少精子症患者Y染色体AZF微缺失率明显高于少精子症组,差别有统计学意义(P0.05)。生精障碍组和严重少精子症组与正常对照组b2/b3缺失率差异均有统计学意义,而在各组间gr/gr缺失显示相似的频率。结论无精子症、严重少精子症和少精子症患者中存在较高频率的染色体结构、数目异常与AZF基因微缺失现象,提示染色体结构、数目异常与AZF基因微缺失可能是男性不育的重要遗传原因;Y染色体AZFc区存在多种部分缺失类型,gr/gr缺失可能对生精功能的影响较小,仅是一种基因组多态,b2/b3缺失是男性生精障碍的的风险因素。     

亚甲基四氢叶酸还原酶C677T基因多态性与特发性男性不育症相关性分析

目的研究亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与精液参数相关性,并分析MTHFR C677T基因多态性分布与特发性男性不育症的易感性。方法收集我院2017年4月至2018年9月就诊的特发性男性不育症患者167例,根据WHO《人类精液检查与处理实验室检查手册》第五版要求行精液质量分析;精液质量参数包括:精液体积、精子密度、精子总数、前向运动精子率、畸形率和液化率。根据实时荧光定量聚合酶链式反应(RT-PCR)检测MTHFR C677T基因多态性,探讨MTHFR C677T基因多态性与精液质量的相关性。为进一步明确MTHFR C677T与男性特发性不育症之间的关系,同期收集65例正常生育男性组成对照组,分析MTHFR C677T多态性位点在不育组和对照组中的分布及其与特发性不育症之间的易感性。结果特发性不育症患者组中,与野生基因型(CC)相比,携带突变杂合子(CT)和突变纯合子(TT)基因型患者的前向精子运动率均降低,差异具有显著性(P0.01,P0.05);精液量、精子密度、精子总数、畸形率和液化率在各基因型间比较差异无统计学意义(P0.05)。特发性不育症患者组TT基因型占26.3%,T等位基因频率为47.6%,分别高于对照组的10.7%和32.3%(P0.05,P0.01);Logistic回归分析显示,携带TT基因型的男性发生特发性不育症的危险性是CC型的3.626倍(95%CI:1.452-9.058);按照精液质量检测指标进一步对167例男性特发性不育症患者进行分组,发现携带TT基因型的男性发生弱精子症、畸精子症和弱畸精子症的风险升高,其OR值分别为3.536、4.138和4.082(95%CI:1.377-9.097;95%CI:1.564-10.947;95%CI:1.464-11.383);而携带CT基因型的男性发生弱畸精子症的危险性是CC基因型的2.143倍(95%CI:1.028-4.467)。少精子症、少畸精子症、少弱精子症和少弱畸精子症与MTHFR C667T基因型分布无关(P0.05)。结论 MTHFR C677T多态性与前向精子运动率有关,TT基因型可能是男性患特发性不育症的易感基因。     

Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989).

To estimate the prevalence and main causes of infertility, a multicentre survey was conducted over 1 year (July 1988-June 1989) in three regions of France. All the 1686 couples in these regions, who consulted a practitioner for primary or secondary infertility during this period, were included in the investigation. The prevalence rate of infertility was found to be 14.1%, indicating that one woman out of seven in France will consult a doctor for an infertility problem during her reproductive life. The main causes of female infertility were ovulation disorders (32%) and tubal damage (26%), and of male infertility oligo-terato-asthenozoospermia (21%), asthenozoospermia (17%), teratozoospermia (10%) and azoospermia (9%). Infertility was also found to be caused by disorders in both the male and female partners together; thus in 39% of cases both the man and woman presented with disorders. The woman alone was responsible for infertility in one-third of cases and the man alone in one-fifth. Unexplained infertility was found in 8% of the couples surveyed.     

Possibilities and limitations of techniques of assisted reproduction for the treatment of male infertility

Since relatively few spermatozoa are needed for oocyte fertilization during gamete intra-Fallopian transfer (GIFT) or in-vitro fertilization (IVF), these methods have been applied in couples with infertility due to male causes. Forty-six couples with male factor infertility were enrolled in this study and results were compared with those attained in 48 couples treated with the same techniques for other than male causes. Overall, GIFT resulted in 26% ongoing pregnancies. GIFT seems to be particularly successful when the sperm concentration is 20 x 10(6)/ml or more, but sperm motility and/or morphology are poor. Nine pregnancies occurred out of 26 GIFT cycles in 18 cases selected on this basis. The ongoing pregnancy rate after IVF was 16% per patient. The latter treatment should be attempted in male immune infertility and in cases with a low sperm concentration, with or without abnormal sperm motility and/or morphology. In these circumstances, five pregnancies were attained out of 28 cycles in 14 cases. For similar sperm concentrations, the conception rate per cycle attained with techniques of assisted reproduction was more than twice that attained with conventional treatment of male infertility.     

从不同角度探讨男性不育的原因

全世界有10％-15％的夫妻在结婚一年内未孕。这些病例中,男性因素不育至少占一半。男性不育的原因很多,包括身体发育异常、免疫原因、精子畸形、染色体异常、Y染色体微缺失、基因缺失、基因单核苷酸多态性以及其他原因。本文综述男性不育的每一种因素,其目的是为了帮助临床医师对不育男性病人诊断、遗传咨询以及进一步开展辅助生殖工作。     

The role of varicocele repair in the new era of assisted reproductive technology

Infertility affects 10-15% of couples who are trying to conceive, and half of the cases are due to male infertility. Intracytoplasmic sperm injection is increasingly being used to overcome multiple sperm deficiencies. Due to its effectiveness, some have proposed ICSI as a solution for all cases of male infertility, regardless of the cause. Hence, even men with potentially treatable causes of infertility have sought the aid of assisted reproductive technology, rather than undergo specific therapies to treat their infertility. Varicoceles are the most frequent physical finding in infertile men; indeed, they may be responsible for nearly one-third of cases of male infertility. Varicocele management, however, has always been a controversial issue because very few randomized, controlled studies have been performed to examine varicocelectomy as an infertility treatment. Significant evidence suggests that varicoceles have a harmful effect on the testis and that varicocelectomy can not only prevent progressive decline in testicular function but also reverse the damage. However, the degree to which varicocele repair improves pregnancy rates and the success of assisted reproductive technology remains controversial.     

不同病因不孕症宫腔内人工授精1640周期疗效分析

目的分析不同病因不孕症行夫精宫腔内人工授精(AIH/IUI)的疗效。方法对2007年1月-2007年12月在浙江省妇保院生殖中心门诊1244对不孕症实施治疗1640周期,根据不同的病因分析比较统计临床妊娠率。结果每周期的临床妊娠率为11.10%,每例临床妊娠率为14.63%。原发不孕组妊娠率高于继发不孕妊娠率(18.4%对9.7%),管性因素不孕组临床妊娠率(4.4%)显著低于不明原因(25.08%)、排卵障碍(18.48%)、男性因素(12.59%)和子宫内膜异位症组(12.62%)(P0.01),后四组妊娠率差异无显著性但以不明原因组最高。女方年龄影响妊娠率。结论夫精宫腔内人工授精(AIH/IUI)治疗非输卵管因素引起不孕疗效甚佳。     

Molecular analysis of microdeletions of the Y chromosome in Venezuelan males with idiopathic infertility

Today infertility is a major health problem affecting about 10-20% of couples. A male factor is assumed to be responsible in about 50% of the infertile couples. The origin of reduced testicular sperm function is unknown in about 60-70% of cases. There are several causes of male infertility such as varicocele, spermatic duct obstruction, and endocrine disorders. Micro-deletions in the Yq are known to represent the pathogenic mechanisms for infertile males. Three different non-overlapping regions designated as AZFa, AZFb, and AZFc are located in interval 5-6 of Yq, and are associated with impaired spermatogenesis in humans. To determine the prevalence of Y chromosomal microdeletions in Venezuelan males with idiopathic infertility, chromosomal, seminal, histological and molecular analyses were carried out in 29 Venezuelan males with idiopathic azoospermia or oligoospermia. Y-microdeletions analyses were performed using a multiplex polymerase chain reaction (PCR)-based technique with 22 sequences-tagged-sites (STSs). One of 29 patients (3.4%) had Yq microdeletions on AZFc. The frequency of AZF microdeletions in Venezuelan patients was similar to other populations with different ethnical or geographical origin.     

In-vivo transperitoneal fertilization

We present the technique of in-vivo transperitoneal fertilization (IVTPF) as a first approach to infertility treatment in couples with male subfertility or unexplained factors. The technique is statistically less successful but also less invasive than either gamete intra-Fallopian transfer (GIFT) or in-vitro fertilization - embryo transfer (IVFET) and offers considerable advantages over intrauterine insemination (IUI). The IVTPF technique involves transperitoneal transfer of processed spermatozoa within the pouch of Douglas after induction of ovulation. We report our 4-year experience with IVTPF which includes 136 treatment cycles in 89 couples. Eight pregnancies were achieved in 89 patients (9%) and 136 treatment cycles (7%). Fifty-one patients (57%) received IVTPF for only one treatment cycle; seven of the eight IVTPF pregnancies occurred in this group. An ectopic pregnancy resulted in one of the eight IVTPF pregnancies (13%). The functional quality of the sperm in those couples who achieved pregnancy was statistically superior to those couples who did not conceive. However, pregnancy was also obtained in case of severe oligozoospermia. Based on our experience, we feel IVTPF to be a very reasonable first approach in patients with no pelvic pathology and with infertility secondary to male factors or unexplained causes.     

An update on the clinical assessment of the infertile male. [corrected

Male infertility is directly or indirectly responsible for 60% of cases involving reproductive-age couples with fertility-related issues. Nevertheless, the evaluation of male infertility is often underestimated or postponed. A coordinated evaluation of the infertile male using standardized procedures improves both diagnostic precision and the results of subsequent management in terms of effectiveness, risk and costs. Recent advances in assisted reproductive techniques (ART) have made it possible to identify and overcome previously untreatable causes of male infertility. To properly utilize the available techniques and improve clinical results, it is of the utmost importance that patients are adequately diagnosed and evaluated. Ideally, this initial assessment should also be affordable and accessible. We describe the main aspects of male infertility evaluation in a practical manner to provide information on the judicious use of available diagnostic tools and to better determine the etiology of the most adequate treatment for the existing condition.     

不孕症相关因素及病因分析

目的:探讨与不孕症相关的因素及病因状况。方法:收集4 234对门诊初诊不孕患者年龄、月经和生育史、以及与不孕相关的检查资料进行分析。结果:男、女性不孕患者平均年龄分别为32.1岁和29.6岁，女性高龄不孕患者占13.9%；原发不孕占60.3%，继发不孕39.7%，女方因素与男方因素或双方因素导致的原发或继发不孕构成比有明显差异（P<0.01）；主要病因所占比重：女性输卵管、盆腔病变46%，其次为男性无精子症或少弱精子症36.4%，女性排卵异常10.2%。其中994对(23.5%)存在双方因素不孕。结论:加强女性输卵管、盆腔疾病的预防和男性生精功能障碍的机制研究可能对防治不孕症起重要作用。