男性不育的遗传学病因研究进展

许多非梗阻性无精子症和严重少精子症患者的病因尚不清楚。据估计,其中约有30%的患者是由于染色体畸变或基因突变等遗传学因素引起的。男性不育的遗传学病因有染色体畸变、Y染色体微缺失和基因突变等,其中Klinefelter综合征和Y染色体微缺失最为常见。与男性不育相关的基因突变包括囊性纤维化跨膜介导的调节子(CFTR)基因、雄激素受体(AR)基因、胰岛素样因子3(INSL3)基因和富含亮氨酸重复序列的G蛋白偶联受体8(LGR8)基因。CFTR基因突变可导致囊性纤维化、输精管缺如和梗阻性无精子症。AR基因突变会引起雄激素不敏感综合征和生精损伤。INSL3和LGR8基因突变则与睾丸下降异常和隐睾相关。Meta分析显示,仅有3个遗传多态性与男性不育显著相关,即AZFc区部分缺失、雄激素受体(AR)基因(CAG)n长度和亚甲基四氢叶酸还原酶(MTHFR)基因多态性。本文主要综述了男性不育常见的遗传学病因以及与男性不育相关的遗传多态性研究进展。     

129例原发性男性不育患者的细胞遗传学分析

目前,育龄夫妇中约15%患有不育,其中近50%由男方因素造成.男性生殖是在中枢神经系统、下丘脑-垂体-睾丸性轴系的内分泌激素调节下,通过精子发生、精子成熟、精子运输、精子获能和精子顶体反应等一系列生理活动完成.精子发生受到诸多有序表达的基因控制,染色体结构、数目的畸变可影响这些基因的功能,进而影响精子发生[1].对原发性男性不育患者进行细胞遗传学分析,可明确不育病因,并为运用辅助生殖技术治疗男性不育提供遗传学依据.     

200例男性不育患者染色体核型分析

在男性不育的诸多病因中,染色体异常是较为重要的因素之一[1].本文就200例男性不育患者的染色体进行核型分析,结果报告如下.     

男性不育患者细胞遗传学检测及意义

在临床实践中我们对男性不育患者实施常规的细胞遗传学检测,并辅以聚合酶链反应(PCR)技术和荧光原位杂交(FISH)技术,发现男性不育症中染色体异常除克氏征(klinefeter’s syndrome)外,还有其他类型异常,有些是罕见核型。对提高男性不育的临床诊断和治疗有价值,也对探索和研究细胞遗传学以至某些基因定位是有意义的。 资料和方法 本文作细胞遗传学检测的1 659例男性不育患者,多数为本所遗传咨询门诊就医者,部分为本市一     

男性不育患者精子染色体研究进展

引起男性不育因素很多,大量研究已经表明男性不育与细胞遗传学异常有关。本综述回顾了近年来不育男性精子染色体方面的研究,以探讨精子染色体异常与男性不育之间关系。     

男性不育209例病因分析

本文报告了对２０９例男性不育患者进行遗传学、生殖内分泌、感染性疾病和抗精子免疫等４种导致不育病因研究的结果。并对４种主要病因检测的意义、睾丸不同发育状况与不同类型染色体异常的生殖激素水平变化的特点、解脲支原体感染与抗精子抗体产生的关系以及其它相关问题进行了分析。     

男性不育209例病因分析

本文报告了２０９例男性不育患者进行遗传学，生殖内分泌，感染性疾病和抗精子免疫等４种导致不育病因研究结果。并对４种主要因检测的意义，睾丸不同发育状况与不同类型染色体异常的生殖激素水平变化的特点，解脲支原感染与抗精子抗体产生的关系以及其它相关问题进行了分析。     

男性不育的遗传学改变及可能对策

染色体畸变和基因突变在男性不育中起着重要作用。了解其原因对于预防和治疗男性不育有积极的作用 ,为此本文对男性不育已知的遗传学原因、与生育相关的候选基因、检测方法及防治等有关问题进行了综述。     

Y染色体结构异常与男性不育（附8例报告）

我院泌尿外科近十年来在男性不育的患者中，发现Y染色体异常8例，现报告于后。     

3529例男性不育病因分析和诊治体会

对3529例男性不育者的病因进行分析,主要原因有:无精子、少精子、精液不液化、精子活力和活率低下、阳萎、不射精、粕索静脉曲张以及染色体异常。同时对男性不育的诊治进行讨论。     

367例不育男性的染色体分析

为了研究染色体因素对男性不育症的影响 ,为辅助生殖技术提供指导 ,我们应用染色体 G显带、C显带技术 ,分析了 3 67例男性不育症患者的染色体。结果发现 79例染色体异常 ,异常率为 2 1 .5 %。染色体异常是男性不育症的重要原因 ,染色体检查应列为人工授精和显微授精等辅助生殖技术的常规检查     

2477例不育男子的染色体分析

目的通过2477例不育男性的染色体检查分析,探讨遗传性因素在男性不育症中的重要性。方法采取2477例不育男性的外周血进行染色体核型分析。结果检出染色体异常465例,阳性检出率为18．7%,其中明显异常348例(14．0%),多态等微细变异117例(4．7%)。结论染色体异常是男性不育的重要病因,染色体检查不但有助于明确诊断而且可避免盲目治疗。     

Genetic counselling for infertile men of known and unknown etiology

Of the couples trying to conceive (had frequent, unprotected sexual intercourse for a year or longer) 15% will experience infertility with the annual incidence of infertility estimated at 1.2 couples per 1,000 total in the general population. Male factors contribute to over 50% of the cases with 7% of the male population experiencing infertility. Not being able to conceive a child is emotionally traumatic and frustrating and can affect the person’s self esteem and the couple’s relationship. Major progress has been achieved in identifying the etiology of male infertility and especially the genetic causes. However, in about 40% of the male infertility cases, the etiology remains unknown and both the diagnosis and/or treatment are a challenge. Genetic testing to determine the underlying genetic cause of infertility is not 100% and genes involved are still being discovered. Consequently, negative genetic test results do not rule out a genetic cause. Thus, genetic counselling should include information regarding the genetic etiology, if known, and the treatment options available. Furthermore, when the infertile couple/male is seeking assisted reproductive technology (ART) using intracytoplasmic sperm injection (ICSI), genetic counselling should include information regarding the risk of transmitting the genetic disorder, causing the male infertility, to the offspring. Therefore, the provision of genetic counselling is an integral component in the investigation and treatment of male infertility. This article will discuss the genetic counselling approach in cases with male infertility.     

Effect of bariatric surgery on in vitro fertilization in infertile men with obesity

BackgroundObesity has previously been related to reduced female fertility, with prolonged waiting time to pregnancy among women with a body mass index (BMI) >35 kg/m² but there are few studies investigating the relationship between high BMI, bariatric surgery, and male fertility.ObjectivesThe primary objective of this article was to investigate the effect of bariatric surgery on in vitro fertilization (IVF) outcomes in a cohort of men with morbid obesity who underwent sleeve gastrectomy (SG).SettingUniversity hospital, bariatric surgery unit.MethodsPre- and postsurgery data on patient age, body mass index (BMI), and variables related to male fertility (semen volume, concentration, progressively motile sperm count, and sperm morphology) were collected; assisted reproductive technology outcomes before and after bariatric surgery were measured by the number of metaphase II oocytes; the number of top-quality oocytes and embryos; the number of fertilized oocytes; the number of transferred embryo; the implantation rate; the pregnancy rate; the live birth rate and the miscarriage rate.ResultsThirty-five men with obesity and idiopathic infertility were included in this study. We found a significant increase, after bariatric surgery, in semen volume, total sperm concentration, progressively motile sperm count, and sperm morphology. Considering IVF outcomes, mean number of top-quality oocytes, mean number of fertilized oocytes, mean number of embryos obtained, and top-quality embryos were significantly increased after bariatric procedure.ConclusionBariatric surgery is confirmed to be safe and effective in increasing the outcomes of assisted reproductive technology treatment also in case of infertile men with obesity, both in terms of pregnancy and live birth rate.     

Seminal plasma oxytocin and oxidative stress levels in infertile men with varicocele

This study aimed to assess seminal plasma oxytocin (OT) and oxidative stress (OS) levels in infertile men with varicocele (Vx). A total of 131 men were divided into fertile men (n = 20), fertile men with Vx (n = 17), infertile men without Vx (n = 40) and infertile men with Vx (n = 54). OT, malondialdehyde (MDA) and glutathione peroxidase (GPx) were estimated in seminal plasma. Mean levels of seminal OT, MDA were significantly decreased, and the mean level of GPx was significantly increased in fertile men with/without Vx compared with infertile men with/without Vx. Mean levels of OT, MDA were increased, and mean level of GPx was significantly decreased in Vx grade III cases compared with Vx grades I, II cases and in bilateral Vx cases compared with unilateral Vx. There was significant negative correlation between seminal OT with sperm count, sperm motility, seminal GPx and significant positive correlation with sperm abnormal forms, seminal MDA. It is concluded that seminal OT is significantly decreased in fertile men with/without Vx compared with infertile men with/without Vx. Seminal OT demonstrated significant negative correlation with sperm count, sperm motility, seminal GPx and significant positive correlation with sperm abnormal forms, seminal MDA. Seminal OT is associated with Vx grade and its bilaterality.     

与男性生育相关的遗传模型

基因突变在男性不育中起着重要作用 ,但目前了解较少。因此 ,观察动物模型中相关基因的突变与雄性不育的表型效应 ,可以帮助人类了解男性不育的发病机理。作者从近年来发表的有关文献 ,对以下 5个方面与雄性哺乳动物生育相关的基因进行综述 :①类固醇受体超基因家族 ;②细胞周期基因 ;③DNA修复基因 ;④性决定和性分化基因 ;⑤影响某些蛋白质的基因。     

Virulence characteristics of male genital tract Escherichia coll isolated from semen of suspected infertile men

The role of Escherichia coli isolates from the semen in the etiology of male infertility, was investigated in this study. Several possible virulence factors of E. coli, such as possession of O antigens or certain K antigens (K1, K5), the type of fimbriae, resistance to antimicrobial drugs and adherence studies to various mammalian sperm cells were examined. It was found that out of 181 E. coli isolates 76.4% belonged to four different urinary serotypes: O1, O2, O4 and O6 (5.7%, 7.5%, 17.0% and 46.2%, respectively). The predominant fimbrial phenotype (81.2%) was T1F+/P-, while 15.8% showed also the possession of P fimbriae (T1F+/P+). No isolate was found with the T1F-/P+ phenotype. The possession of antigens K1, K5 was found to be low (12% only). A relatively high level of adherence to different mammalian sperm cells was found among E. coli isolates. 43% of the E. coli isolates were resistant to doxycycline (the drug of choice) and additionally, most of these were resistant also to ampicillin. We suggest that there is a close subpopulation of E. coli which possess certain virulence properties and have the potential to adhere to sperm cells and to colonize on other target tissues in the male genital tract. Such virulent may cause asymptomatic male infertility and may be termed male genital tract (MGT)-E. coli.     

精索静脉曲张不育患者的精浆生化分析

目的 探讨精索静脉曲张不育患者精浆中酸性磷酸酶、果糖、锌和α-糖苷酶水平的变化.方法 分别检测120例精索静脉曲张不育患者、180例非精索静脉曲张不育患者和36例正常男性的精浆中酸性磷酸酶、果糖、锌和α-糖苷酶含量.结果 精索静脉曲张不育组和非精索静脉曲张不育组精浆中酸性磷酸酶含量均显著低于正常对照组（P＜0.01）,但精索静脉曲张不育组和非精索静脉曲张不育组之间的差异无显著性意义（P＞0.05）;各组精浆果糖活性无显著性差异（P＞0.05）;精浆中锌和α-糖苷酶含量随精索静脉曲张程度的增加而降低,且明显低于正常对照组（P＜0.05）,但与非精索静脉曲张不育组之间的差异无显著性意义（P＞0.05）.结论 精索静脉曲张可通过某些因素引起精浆中酸性磷酸酶、锌和α-糖苷酶含量降低,从而造成男性不育.     

Chromosomal variants among 1790 infertile men

BACKGROUND: The largest cytogenetic survey involving infertile men was undertaken to clarify whether chromosomal abnormalities, including autosomal abnormalities, affect semen qualities. METHOD: All male patients who visited an infertility clinic from 1990 to 1998 underwent chromosomal and semen analysis. RESULTS: Chromosomal abnormalities were found in 225 of 1790 patients (12.6%). The most frequent anomaly was Klinefelter syndrome (64 cases). Autosomal anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autosomal anomaly (30 cases) and its incidence was significantly higher than those of normal controls. The seminograms of these patients varied widely, with nine patients having azoospermia and three patients achieving natural pregnancies. It is not yet clear if this karyotype affects spermatogenesis. CONCLUSION: Autosomal anomalies as well as sex chromosomal abnormalities might affect spermatogenesis. Cytogenetic study is important before intracytoplasmic sperm injection.