氧化应激与精索静脉曲张所致男性不育的关系研究进展

不孕不育是当前社会人类面临的一个重大课题,精索静脉曲张是导致男性不育重要的原因,氧化应激是男性不育及精索静脉曲张研究的热门方向,在精索静脉曲张所致男性不育中的作用已经得到广泛的认可.本文综述了氧化应激的作用机制,氧化应激在精索静脉曲张所致男性不育患者血清、睾丸组织和精液中的表现及与VC分级的关系,精索静脉曲张结扎术对氧化应激指标的影响,氧化应激在精索静脉曲张所致男性不育中的作用途径等最新的研究进展.     

氧化应激与精索静脉曲张所致男性不育的关系研究进展

不孕不育是当前社会人类面临的一个重大课题,精索静脉曲张是导致男性不育重要的原因,氧化应激是男性不育及精索静脉曲张研究的热门方向,在精索静脉曲张所致男性不育中的作用已经得到广泛的认可.本文综述了氧化应激的作用机制,氧化应激在精索静脉曲张所致男性不育患者血清、睾丸组织和精液中的表现及与VC分级的关系,精索静脉曲张结扎术对氧化应激指标的影响,氧化应激在精索静脉曲张所致男性不育中的作用途径等最新的研究进展.     

精液中细菌感染与男性不育的关系及其分子生物学检测

精液细菌性感染是男性不育原因之一，但细菌感染在男性不育中有何作用及作用机理如何，目前仍存在不同看法。用分子生物学技术提供了一个更准确和完善的方法检测精液中细菌。本文对其研究进展作一综述     

精索内静脉高位结扎术联合高压氧治疗精索静脉曲张伴精液异常的疗效观察

精索静脉曲张（varicocele，VC）是男性不育常见的原因，WHO在不育症研究中将VC不育症列为首位，约35％的男性不育患者伴有VC。虽然国内外进行了大量研究，但其致睾丸生精功能障碍和男性不育的机制至今仍不十分清楚，缺氧、CO2蓄积、能量代谢障碍可能是VC引起男性不育的主要原因。高压氧（hyperbaric oxygenation，HBO）对慢性缺血、低氧性疾病及微循环障碍性疾病有独特的治疗作用，本研究在经典手术治疗基础上进行高压氧干预，对精液功能改善程度及速度进行研究。     

精液中细菌感染与男性不育的关系及其分子生物学检测

精液细菌性感染是男性不育原因之一，但细菌感染在男性不育中有何作用及作用机理如何，目前仍存在不同看法。用分子生物学技术提供一个更准确和完善的方法检测精液中细菌。本文对其研究进展作一综述。     

白细胞精子症的研究进展

白细胞精子症是男性不育的一个重要原因,目前对精液白细胞的分布、来源和作用尚完全不清楚。精液中增多的白细胞及其产物可对精子功能和精液质量产生影响,其中活性氧(ROS)的增加与男性不育关系密切。白细胞精子症的治疗和预防对改善精液质量有一定作用。     

重庆地区723例男性不育主要病因分析

目的 探讨男性不育发生的病因分布.方法 对重庆地区723例男性不育患者的诊治情况进行回顾性分析.结果 男性不育病因中以精索静脉曲张、先天性异常、泌尿生殖道感染、免疫性因素为主,占33.9%:特发性精子质量异常和正常精液不育的占51.9%.结论 多种原因可引起男性不育,不明原因的男性不育发病机制需要进一步研究.     

精索静脉曲张致男性不育的研究进展

精索静脉曲张（VC）是青年男性泌尿科常见病，是导致男性不育的重要原因，目前对精索静脉曲张致男性不育的机制已进行了不少研究，但仍未完全阐明，VC可能通过睾丸微循环、血管活性物质、氧自由基、一氧化氮、缺氧、免疫及凋亡等多种途径共同作用致男性不育。近年来，细胞分子和遗传学方面的异常成为VC研究的热点，如细胞凋亡、氧化应激和NO等。现结合近几年的研究，就VC致男性不育的发病机制作一综述。     

精液中的细胞因子与男性不育的关系

据统计，不育症的发病率占已婚夫妇的15％。其中男性不育占到50％。世界卫生组织宣布。不育症与心血管病、肿瘤并列，已成为当今影响人类生活和健康的三大主要疾病。引起不育的原因，除了非生物因素外，尚有免疫因素、遗传因素、营养缺乏、心理因素和疾病等。在免疫因素中，精液中的细胞因子在男性不育的发病过程中起着非常重要的作用，近几年来，细胞因子对生殖系统的神经内分泌、睾丸功能、精子发生乃至精子功能的重要调节作用引起了广泛关注。本文对精液中的细胞因子在男性不育中的作用作一综述。     

TDP-43在男性不育中的研究进展

全世界大约有10%~15%的育龄夫妇婚后1年不孕不育。在不育的原因中,男性因素大约占50%。男性不育病因复杂多样,很多目前尚不能明确。近年来,RNA结合蛋白在男性不育中的作用引起人们的关注。反式激活应答DNA/RNA结合蛋白(TDP-43)是一种DNA/RNA结合蛋白,参与睾丸组织中的基因调控,其异常表达可影响男性生育能力,导致男性不育。TDP-43在正常精子与异常精子中的分布与表达量也是不同的,可能是一种男性不育的标志物。本文主要就TDP-43的结构及其在男性不育中的作用进行综述。     

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.     

Medical treatment of male infertility

The majority of male infertility is idiopathic. However, there are multiple known causes of male infertility, and some of these causes can be treated medically with high success rates. In cases of idiopathic or genetic causes of male infertility, medical management is typically empirical; in most instances medical therapy represents off-label use that is not specifically approved by the FDA. Understanding the hypothalamic-pituitary-gonadal (HPG) axis and the effect of estrogen excess is critical for the assessment and treatment of male infertility. The use of certain medical treatment has been associated with an increase in sperm production or motility, and primarily focuses on optimizing testosterone (T) production from the Leydig cells, increasing follicle-stimulating hormone (FSH) levels to stimulate Sertoli cells and spermatogenesis, and normalizing the T to estrogen ratio.     

Genetic causes of male infertility

Summary.  Male infertility has often been ascribed to infections, immunologic factors, chemical insults or malformations. About 10% of infertile males have severe defects in sperm production. Lately, research has focused on possible genetic aetiologies. In this review genetic causes of male infertility are discussed. For pragmatic reasons three groups have been defined. In the first group, disorders of sexual differentiation associated with male infertility are considered. In the second group, male infertility is discussed in a context of some genetic diseases. In the third group, genetic causes for isolated defects of sperm production and function are reported.     

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。     

Vleiotic recombination and male infertility： from basic science to clinical reality？

Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.     

精子特异性表达基因的遗传多态性与男性不育

精子发生需要精子特异基因的表达,这些特异表达基因的遗传多态性可能影响精子的发生,导致男性不育。国内外学者已对精子发生特异表达的一些候选基因进行多态性研究,分析其多态性与不育的相关性及其可能的致病机制,进一步从基因角度阐明不育的病因。本文对于精子发生相关的基因多态性研究进展做一综述。     

Definition and current evaluation of subfertile men

Male infertility affects 10% of reproductive aged couples worldwide and is treatable in many cases. In addition to other well-described etiologies, genetic causes of male infertility are now more commonly diagnosed. Using principles of evidence-based medicine, this review outlines diagnostic and treatments options to inform clinical management. In order of importance, randomized controlled clinical trials, basic scientific studies, meta-analyses, case-controlled cohort studies, best-practice policy recommendations and reviews from peer-reviewed literature were incorporated that provide organized and timely guidelines to the current management of male infertility. The strength of evidence for treatment recommendations is also classified when appropriate.     

Practical approaches to the diagnosis and management of male infertility

Male infertility affects 10% of couples of reproductive age worldwide, and is treatable in many cases. In addition to well-established etiologies, genetic causes of male infertility are now diagnosed more commonly, as our knowledge of genomic medicine advances. Using principles of evidence-based medicine, this review outlines diagnostic and treatment algorithms that guide clinical management. In order of importance, randomized controlled clinical trials, basic scientific studies, meta-analyses, case-controlled cohort studies, best-practice policy recommendations and reviews from peer-reviewed literature were incorporated into algorithms that provide organized and timely guidelines to the current management of male infertility. The strength of the evidence for treatment recommendations is also classified when appropriate.     

Molecular biology of male infertility

About 15% of couples have reduced fertility and in approximately one-half of all cases the reason is male infertility, usually of genetic origin. Thus, in the context of research in genes involved in reproduction and sex determination, genetic anomalies in gametogenesis are being extensively studied. The most frequent pathogenic causes of male infertility are Y-chromosomal microdeletions (8-15%) in the long arm of the Y chromosome, which, by loss of specific DNA segments, leads to loss of vital genes for sperm production. Infertile men, who attend infertility clinics, rise to 15% among those with azoospermia or spermatogenesis problem. The new technique of intracytoplasmic sperm injection has allowed many infertile men to achieve their dreams of fatherhood. However, the spermatogenic defect is genetic anomalies, which might be a potential risk of transmitting this defect to future offspring. Therefore, genetic counseling of all couples with the diagnosis of male infertility is recommended before their enrolment in intrauterine insemination, in vitro fertilization, and intracytoplasmic sperm injection. The important role of genetic abnormalities in the causation of human male infertility is increasingly recognized. While much remains to be learned in this fast-moving field, considerable progress has been made in the clinical delineation of genetic forms of male infertility and in the characterization of the responsible genes and their mutations or deletions. This review should provide insight into the understanding of parthenogenesis of male infertility in the human.     

男性不育研究新进展

70%以上的男性不育病因不明,即使在已知病因的男性不育中,其发病机制尚未完全阐明,因此男性不育诊治有其复杂性与特殊性。自从1992年发明卵细胞胞质内单精子注射(ICSI)治疗男性不育以来,对难治性男性不育取得突破性进展,但对每一男性不育个体选择治疗时,传统治疗方法应受到重视。男性不育诊治程序的规范化、辅助生殖技术的成功率和安全性等研究将成为男性不育发展的主导方向。