两例脆性X综合征患者的精子发生

男性以智力低下为表现型的脆性X综合征将有丧失生育力的可能;而对女性则只是智商较低。至于脆性X智力低下的程度与生育力退变之间的关系如何目前还无法解释。据报道,多数男性携带者有生育力,为此智力低下型脆性X患者的生育力退变就不能简单地解释是获得了突变的结果。本文作者以前研究两例脆性X综合征患者的睾丸组织也发现有间质组织水肿、生育力退变以及精细胞明显变异损伤。对此作者提出:减数分裂后变化是否与第一次减数分裂染色体的     

脑红蛋白在成年男性生殖系统的表达及意义

目的:探讨脑红蛋白(neuroglobin,Ngb)在成年男性生殖系统的表达及其意义。方法:用免疫组织化学SP法观测Ngb在成人男性生殖系统的表达、分布与定位。结果:Ngb在生殖系统内神经节细胞、睾丸间质细胞有较强表达,在睾丸支持细胞、生精细胞、附睾管腔上皮、前列腺腺上皮及精囊黏膜上皮呈弱阳性表达。结论:Ngb在男性生殖系统中分布广泛,其功能值得研究。     

30例男性生殖系统发育异常的细胞遗传学研究

目的应用细胞遗传学技术探讨男性生殖系统发育异常与染色体畸变的关系.方法采用外周血培养制备染色体标本对30例男性生殖系统发育异常患者进行染色体核型分析.结果 30例男性生殖系统发育异常患者中47,XXY 10例;46,XX 1例,46,XY,del(Y)(q11)1例,46,XY,Y=18 1例,结论染色体畸变是男性生殖系统发育异常的重要原因之一,对男性生殖系统发育异常患者进行细胞遗传学检查是很有必要的.     

322例尿道下裂患者的染色体核型分析

正尿道下裂是因尿道发育不良而致尿道异常开口,常合并阴茎弯曲以及其他生殖器畸形,是男性泌尿生殖系统最常见的先天畸形之一。目前,据国内报道,在男性新生儿中尿道下裂的发病率约为0.3%,该病严重影响患儿的生活质量,并造成心理和生理上的影响。本研究通过分析122例尿道下裂男性患儿的临床特征,探讨尿道下裂的表现型及其与其他泌尿生殖系统畸形之间的关系,同时分析表现型与染色体核型异常的关系。1对象与方法     

氧化应激对女性生殖系统的损伤作用

研究表明,氧化应激可造成全身多个器官系统的损伤,包括男性生殖系统,然而,氧化应激对于女性生殖系统的损伤作用却缺乏研究。本文阐述了氧化应激与女性不孕症的相关性,并从卵巢细胞凋亡、卵巢衰老与炎症反应三方面综述了氧化应激对生殖系统损伤作用的机制。     

基因Cdca2敲除对小鼠精子发生和生育力无明显影响

目的 探究睾丸高表达细胞分裂周期相关蛋白2基因(Cdca2)在小鼠精子发生和生育力中的生理功能。方法 通过Q-PCR和Western blot检测Cdca2在小鼠不同组织部位的表达情况;利用CRISPR/Cas9基因编辑技术和Cre-loxP介导的重组系统构建Cdca2组织特异性敲除的小鼠品系;通过苏木精-伊红(HE)染色和形态学分析了解小鼠CDCA2缺失对精子发生的各个阶段生精细胞形态的影响;通过精子全自动检测分析系统检测小鼠CDCA2缺失对精子活率及运动参数的影响;通过生育力测试实验检测CDCA2缺失对雄性小鼠生育能力的影响。结果 Cdca2是一个睾丸高表达的基因;利用CRISPR/Cas9技术和生殖系统特异性Cre的工具鼠,成功获得了Cdca2生殖细胞特异性敲除的小鼠;小鼠CDCA2缺失对精子发生中各阶段生精细胞、精子运动参数及雄性生育能力的影响改变无统计学意义。结论 基因Cdca2对于小鼠精子发生和雄性生育力的维持可能是非必需的。     

环境内分泌干扰物与隔代遗传

环境内分泌干扰物(EDC)可以引起包括生殖系统畸形、生育力下降以及行为学改变等的一系列健康问题。最近动物实验的相关研究发现EDC引起的多种健康问题存在隔代遗传效应。DNA甲基化、组蛋白修饰及非编码RNA(ncRNA)是隔代遗传的主要表观遗传学机制。本文将就EDC引起的隔代遗传效应及其中所涉及的表观遗传学机制作综述。     

精子线粒体DNA损伤与男性不育

精子线粒体DNA与男性生育能力密切相关,由于它缺少组蛋白和DNA结合蛋白的保护,易受活性氧的攻击,造成损伤,增加突变率,这被认为是引起男性不育的重要原因。精子mtDNA突变和数量的检测是评价男性生育力的重要方法。对精子mtDNA损伤的研究有重要意义。     

男性小儿泌尿生殖系统恶性肿瘤19例诊治体会

小儿泌尿生殖系统恶性肿瘤，临床虽不多见，一旦发生将严重威胁小儿的生命。本科自1990年10月至2003年10月，共收治19例男性小儿泌尿生殖系统恶性肿瘤，手术后病理证实为泌尿生殖系统恶性肿瘤，结合文献复习将诊治体会报告如下。     

有机磷农药对精子顶体内透明质酸酶的影响

目的:探讨长期接触有机磷农药对精子透明质酸酶活性的影响.方法:对45例有机磷农药接触阳性组和25例非接触对照组进行精液常规检查,精子透明质酸酶活性采用自制的药盒检测.结果:有机磷农药接触组精子透明质酸酶活性(20.16±16.94) μm,透明质酸酶阳性率(30.35±19.25)％,对照组精子透明质酸酶活性(58.63±16.39) μm,透明质酸酶阳性率(70.56±19.28)％,有机磷农药接触组透明质酸酶活性和透明质酸酶阳性率均较对照组明显偏低.结论:长期接触有机磷农药导致精子透明质酸酶活性减弱,透明质酸酶活性降低会引起男性生育力的下降.因此,长期接触有机磷农药可能是引起男性生育力下降的原因之一.     

Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin

BACKGROUND: The imino sugar N-butyldeoxynojirimycin (NB-DNJ) causes reversible infertility in male mice. This compound may have promise as a male contraceptive, because it is already in clinical use, for a non-reproductive condition. As contraceptives need to be taken for extended periods of time, it was essential to evaluate NB-DNJ for its reproductive effects over a long period of administration. METHODS: We have assessed the imino sugar for its long-term effects on the fertility of male C57BL/6 mice, reversibility and potential cumulative toxicity by monitoring various reproductive and systemic parameters over 12 months. RESULTS: Long-term low-dose (15 mg/kg/day) administration of NB-DNJ was sufficient to maintain infertility in male mice. In contrast to short-term drug treatment, imino sugar exposure for more than 3 months resulted in reduced sperm counts. Male mice that had been administered imino sugar for 6, 10 or 12 months and were then maintained without drug administration regained their fertility within 9 weeks after withdrawal of the drug. Prolonged NB-DNJ intake did not affect reproductive hormone levels, serum biochemistry or animal behaviour. CONCLUSION: Low-dose treatment with NB-DNJ over a long period is an effective approach for the regulation of fertility in a male mammal by non-hormonal means, without causing overt adverse effects.     

Medically assisted reproduction in the presence of chronic viral diseases

Teams practising medically assisted reproduction techniques try to avoid viruses as much as possible. Attitudes towards chronic carriers of viruses are rapidly changing, especially for human immunodeficiency virus (HIV) patients. We focus our attention on the legitimacy of systematic screening before assisted reproductive techniques and the need for specialized approaches including an adapted laboratory for viral hazards as well as the need for a multidisciplinary team. Specificities of HIV, hepatitis C virus (HCV), hepatitis B virus (HBV) carriers and the hypothesis of a reduced fertility potential are discussed. Are male HIV carriers a new indication for assisted reproductive techniques in order to prevent virus transmission? It is largely proven that sperm gradient preparation techniques efficiently decrease viral loads and therefore have a protective effect on contamination risk during assisted reproductive techniques. Although a few thousand assisted reproductive technique cycles were performed in the world for this indication without contamination, it is still too early to demonstrate that this technology is fully safe. Two examples of contaminations during insemination are examined. Many questions remain unresolved, such as the lack of standardized techniques for semen preparation or virus detection or the relative merits of intrauterine insemination or ICSI to prevent HIV contamination during assisted reproductive techniques. The authors plead for well-structured, separate programmes of care linked to research objectives.     

Increased male responsibility and participation: a key to improving the reproductive health

This article examines the role of male responsibility and participation in the enhancement of reproductive health in India. Men are recognized to be responsible for the large proportion of reproductive ill health suffered by their female partners. Lack of knowledge, nonavailability of acceptable contraceptives and lack of services with quality of care deter men from sharing the responsibility in reproductive health matters. Misinformation regarding male sexuality and limited availability of scientific data contributed men's less involvement in reproductive health. Thus, various strategies are implemented to increase men's awareness of reproductive health and the accessibility of products and services. These strategies include: 1) increasing contraceptive options for men; 2) supporting women's contraceptive use; 3) improving sexual behavior and safe sex practices; and 4) narrowing the gender gap for better fertility control. Moreover, extensive research is required in order to understand men's perceptions and needs about fertility regulation and sexual behavior as well as services development.     

Spermatozoal nuclear determinants of reproductive outcome: implications for ART

A male factor is implicated in more than 50% of couples treated with IVF. However, neither the routine testing of male fertility potential nor its treatment address the specific mechanisms by which spermatozoal factors may impact upon reproductive outcome. An important function of spermatozoa is to deliver the paternal genome to the oocyte. Recently, a number of acquired spermatozoal nuclear factors that may have implications on reproductive outcome have been described. These include non-specific DNA strand breaks, numerical abnormalities in spermatozoal chromosome content, Y chromosome microdeletions and alterations in the epigenetic regulation of paternal genome. The exact mechanisms by which these factors affect reproduction are unknown and their implications for assisted reproduction technology outcome need to be further investigated. These recent findings point to the need for novel and more personalized approaches to test and treat male factor infertility.     

The desire for multiple pregnancy in male and female infertility patients

BACKGROUND: It is apparent that many fertility patients consider multiple birth an ideal treatment outcome. We wished to evaluate the desire for multiple birth among patients, and the effect of patient demographics and recognition of the increased fetal risks of multiple pregnancy on this desire. METHODS: This was a prospective questionnaire study completed by 801 male and female infertility patients attending a tertiary level Canadian university fertility clinic. Two logistic regression analyses were performed with desire for multiple birth with next fertility treatment and recognition of the increased fetal risks of multiple pregnancy as the dependent variables. RESULTS: 41% of patients desired a multiple birth. Increasing duration of infertility or previous assisted reproductive treatment increased, and having previous children or recognition of the increased fetal risks decreased, this desire. Patient age or sex did not affect desire for multiple birth. Previous assisted reproductive treatment was associated with increased recognition of the fetal risks of multiple pregnancy. CONCLUSIONS: A significant proportion of fertility patients considers multiple birth an ideal treatment outcome. Recognition of the increased fetal risks of multiple pregnancy significantly reduced this desire. Patient education may play an important role in assisting physicians in the quest to reduce the contribution of assisted reproductive treatment to multiple births and their attending complications.     

The relevance of the peritoneal fluid in endometriosis-associated infertility

Endometriosis, one of the most prevalent gynaecological disorders, may affect fertility. Extensive research has been done in an attempt to understand the pathogenesis of endometriosis and its association with reproductive failure. It has been suggested that the disease affects almost any step of reproduction, but data are mostly controversial so it is difficult to draw clear conclusions from studies that have been done so far. Not only is peritoneal fluid in close proximity to endometriotic lesions, but it is also the environment in which early reproductive events take place. Studies on the peritoneal fluid in endometriosis have provided significant data towards an understanding of this disease. Immunological factors play a key role in determining the occurrence of endometriosis as well as its heterogenous symptoms. Since data also indicate that there are immunological differences between infertile and fertile women with endometriosis, recent studies have been designed to take these differences into consideration. This review will discuss the mechanisms by which endometriosis may affect fertility, and an emphasis will be placed on the relevance of the peritoneal fluid.     

Abnormalities in sex hormones and sexual dysfunction in males with diabetes mellitus: A mechanistic insight

Diabetes is a considerate metabolic disorder that can lead to a series of complications, involving the malfunctioning of the reproductive system of males. It has been observed that there is a gradual rise in male diabetic patients and almost half of the diabetic males have low semen quality and decrease reproductive function. In diabetic conditions, prolonged hyperglycemia leads to oxidative stress, diabetic neuropathy, and insulin resistance. Insulin resistance and its deficiency can impair the hypothalamus, pituitary gland, gonads, and perigonads. This causes a decrease in the secretion of gonadal steroids such as GnRH (gonadotropin-releasing hormone), FSH (follicle-stimulating hormone), LH (luteinizing hormone), and Testosterone. Moreover, it also causes damage to the testicles, spermatogenic and stromal cells, seminiferous tubules, and various structural injuries to male reproductive organs. During spermatogenesis, glucose metabolism plays an important role, because the fundamental activities of cells and their specific features, such as motility and mature sperm fertilization activity, are maintained by glucose metabolism. All these activities can influence the fertility and reproductive health of males. But the glucose metabolism is primarily disrupted in diabetic conditions. Until now, there has been no medicine focusing on the reproductive health of diabetic people. In this chapter, we review the consequences of diabetes on the reproductive system of males and all the pathways involved in the dysfunction of the reproductive system. This will help interpret the effects of DM on male reproductive health.     

Contribution of environmental factors to the risk of male infertility

BACKGROUND: An increasing number of reports suggest that chemical and physical agents in the environment, introduced and spread by human activity, may affect male fertility in humans. We investigated the relationships between exposure to environmental agents and seminal characteristics, and the concentrations of reproductive hormones in the serum of men seeking infertility treatment. METHODS: We studied 225 male partners from consecutively recruited couples, who had their first infertility consultation between 1995 and 1998, in the Litoral Sur region of Argentina, one of the most productive farming regions in the world. RESULTS: A multivariate logistic regression model showed that exposure to pesticides and solvents is significantly associated with sperm threshold values well below the limit for male fertility. We also found that men exposed to pesticides had higher serum oestradiol concentrations, and that men exposed to solvents had lower LH concentrations than non-exposed men. All of these effects were greater in men with primary infertility than in men with secondary infertility. CONCLUSION: We have shown that environmental factors contribute to the severity of infertility, and that this may worsen the effects of pre-existing genetic or medical risk factors.     

Generation and functional characterization of a conditional Pumilio2 null allele

The highly conserved RNA binding protein PUF (Pumilio/FBF) family is present throughout eukaryotes from yeast to mammals, with critical roles in development, fertility and the nervous system. However, the function of the mammalian PUF family members remains underexplored. Our previous study reported that a gene-trap mutation of Pum2 results in a smaller testis but does not impact fertility and viability. Although the gene-trap mutation disrupted the key functional domain of PUM protein–PUM-HD (Pumilio homology domain), but still produced a chimeric Pum2-β-geo protein containing part of PUM2, raising a question if such a chimeric protein may provide any residual function or contribute to the reproductive phenotype. Here, we report the generation of a conditional PUM2 allele, when knocked out, producing no residual PUM2 and hence a complete loss-of-function allele. We also uncovered small but significant reduction of male fertility and viability in the mutants, suggesting requirement of PUM2 for male fertility and viability     

Beeinflussung testikulärer Zellen durch endokrin aktive Umweltchemikalien

In recent years, interest in assessing the relationship between impaired male fertility and environmental factors has increased. Many studies have been published reporting on reproductive dysfunctions in male humans and animals. Especially environmental pollutants with endocrine disrupting activity are discussed as a possible cause of this detrimental development. It was shown that substances with estrogenic and antiandrogenic properties may cause hypospadias, cryptorchidism, reduction of sperm density, and an increase of testicular tumors in animals. Many adverse effects on animal male fertility have been documented for phthalates and chlorinated hydrocarbons. Some of the effects under discussion are receptormediated mechanisms or direct toxic effects. However, it is difficult to transfer these data to the human situation. The data on human reproductive risk are scarce. Therefore, epidemiological studies in environmental and occupational medicine from both exposed and unexposed men have to be collected according to standardized protocols in order to identify or confirm potential reproductive hazards.