Male infertility

published_or_final_versio

Polymorphism of Xenobiotic Detoxification Genes and Male Infertility

Infertility is a multifactorial disease caused by both genetic and environmental factors. It is observed in 10–15% of couples, among which male infertility contributes for half the cases. Thus, identifying underlying causes of male infertility and for proper methods for treating and/or preventing sperm damage is of paramount importance. It is found that one of the factors that has been recently implicated in male infertility is oxidative stress, mediated by reactive oxygen species (ROS) that are produced during the metabolic process, as well as during the exposure to environmental chemical agents and their interaction with tissue-specific enzymes. Several studies have identified genetic variations at different loci, connected with male infertility, that may shed light on some idiopathic cases of seminal fluid abnormalities. In this chapter, we make an effort to decipher the contribution of polymorphisms in xenobiotic detoxification genes in the male infertility development

APHRODITE criteria:addressing male patients with hypogonadism and/or infertility owing to altered idiopathic testicular function

Research question: Can a novel classification system of the infertile male - 'APHRODITE' (Addressing male Patients with Hypogonadism and/or infeRtility Owing to altereD, Idiopathic TEsticular function) - stratify different subgroups of male infertility to help scientists to design clinical trials on the hormonal treatment of male infertility, and clinicians to counsel and treat the endocrinological imbalances in men and, ultimately, increase the chances of natural and assisted conception?Design: A collaboration between andrologists, reproductive urologists and gynaecologists, with specialization in reproductive medicine and expertise in male infertility, led to the development of the APHRODITE criteria through an iterative consensus process based on clinical patient descriptions and the results of routine laboratory tests, including semen analysis and hormonal testing.Results: Five patient groups were delineated according to the APHRODITE criteria; (1) Hypogonadotrophic hypogonadism (acquired and congenital); (2) Idiopathic male infertility with lowered semen analysis parameters, normal serum FSH and normal serum total testosterone concentrations; (3) A hypogonadal state with lowered semen analysis parameters, normal FSH and reduced total testosterone concentrations; (4) Lowered semen analysis parameters, elevated FSH concentrations and reduced or normal total testosterone concentrations; and (5) Unexplained male infertility in the context of unexplained couple infertility.Conclusion: The APHRODITE criteria offer a novel and standardized patient stratification system for male infertility independent of aetiology and/or altered spermatogenesis, facilitating communication among clinicians, researchers and patients to improve reproductive outcomes following hormonal therapy. APHRODITE is proposed as a basis for future trials of the hormonal treatment of male infertility.</p

Insight into epidemiology of male infertility in central India

Background: Approximately 10% to 15% of couples in developing countries are infertile. Male infertility is responsible for 20-43% of infertility cases and contributes to another 12-20% of cases. Azoospermia, oligozoospermia, asthenozoospermia, teratozoospermia, and oligoasthenoteratozoospermia are abnormal sperm parameters causing male infertility. Male infertility is often poorly responsive to primary treatment and often requires supportive secondary measures. The understanding of causes and modifiable risk factors for male infertility would enable their prevention and primary treatment. Aims and objectives of current study was to analyze the epidemiology and clinical factors of male infertility in Central India and identify its risk factors.Methods: 100 male patients attending outpatient for treatment of infertility were evaluated using a questionnaire. Semen samples were collected and spermatozoa were assessed according to WHO 2021 data for semen analysis. The results were tabulated and analyzed.Results: Amongst patients were semen abnormalities, the majority (34%) of patients had oligoasthenoteratozoospermia. All semen abnormalities were most common in the age group 35-45 years and in patients with 5-10 years duration of infertility. All semen abnormalities except azoospermia were most common in people with a monthly income of &gt;2,000-5,000. The majority of the patients had a past history of urogenital tract infection, except oligoasthenospermic males in whom the majority had varicocele. All semen abnormalities were more common among businessmen and also more prevalent among smokers.Conclusions: Couples should be educated about infertility causes and the contribution of male infertility to it. Multifactorial analysis along with clinicopathological analysis should contribute to accurate diagnosis of the cause of male infertility and proposal of adequate measures

Organizing male infertility:Masculinities and fertility treatment

This paper explores how organizations within the fertility treatment sector in the UK discursively construct (cis) male infertility and whether, in so doing, they reinforce or reproduce prevailing institutionalized discourses and practices of masculinity. We seek to address the gender disparity in contemporary understandings of reproductive health in Organization Studies (OS) where women's experience of infertility and its impact is well researched, but only occasionally does this extend to issues of male infertility. Specifically, we build on existing literature in the social sciences and OS on male infertility and expand it by investigating the organizations that treat fertility issues. We examine and discuss how they may inadvertently contribute to this neglect, by reflecting and reproducing the masculine norms that surround male infertility. We employ a thematic analysis to examine texts produced by organizations involved in the fertility sector and find that male infertility is discussed and presented through three intersecting lenses: (a) a hegemonic masculinization of infertility; (b) male infertility as an othering experience; and (c) disembodied masculinity. We highlight how these gendered organizational narratives (re)produce prevailing norms and practices of masculinity, and how an organizational shift within the sector needs to take place if substantial changes toward more caring, relational, and collective approaches to gender and reproductive health are to be achieved

The role of number of copies, structure, behavior and copy number variations (CNV) of the Y chromosome in male infertility

The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30–40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome

Eastern medicine approaches to male infertility.

Male factor is a common cause of infertility and the male partner must be systematically evaluated in the workup of every infertile couple. Various Eastern medical strategies have been tried with variable success. This article describes the clinical effects of Eastern medicine approaches including acupuncture, Chinese herbal medicine, massage, yoga, tai chi, and qi gong, which could improve the sperm parameters and motility, genital inflammatory conditions, as well as immune system disorders, sexual dysfunction, and varicocele. Acupuncture reduces inflammation, increases sperm motility, improves semen parameters, modulates the immune system, and improves sexual and ejaculatory dysfunction in male infertility. The clinical effects may be mediated via activation of somatic afferent nerves innervating the skin and muscle. Chinese herbal medicines may also exert helpful effects in male infertility, and it is worth noting that some herbal drugs may result in male infertility. Massage also exerts positive effects in male infertility. Nevertheless, the mechanisms of clinical effects are unclear. Tai chi, qi gong, and yoga have not been investigated in male infertility, but it has been reported to regulate endocrine and central or autonomic nervous systems. In conclusion, Eastern medical approaches have beneficial on reproductive effects in male infertility. However, future well-designed, randomized, clinical control trials are needed to evaluate the safety, efficacy, and mechanisms of Eastern medical approaches for male infertility.postprin

A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships

Altres ajuts: National Health and Medical Research Council (APP1120356); Netherlands Organisation for Scientific Research (918-15-667); Wellcome Trust (209451); German Research Foundation (DFG, CRU326); National Institutes of Health: Genomics of Spermatogenic Impairment (R01HD078641); Ministerio de Sanidad.Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of clear statements from field leaders as to what constitutes a validated cause of human male infertility (the current paper aims to address this). Fortunately, there has been a significant increase in the number of male infertility NGS studies. These have revealed a considerable number of novel gene-disease relationships (GDRs), which each require stringent assessment to validate the strength of genotype-phenotype associations. To definitively assess which of these GDRs are clinically relevant, the International Male Infertility Genomics Consortium (IMIGC) has identified the need for a systematic review and a comprehensive overview of known male infertility genes and an assessment of the evidence for reported GDRs. Objective and Rationale: In 2019, the first standardised clinical validity assessment of monogenic causes of male infertility was published. Here, we provide a comprehensive update of the subsequent 1.5 years, employing the joint expertise of the IMIGC to systematically evaluate all available evidence (as of 1 July 2020) for monogenic causes of isolated or syndromic male infertility, endocrine disorders or reproductive system abnormalities affecting the male sex organs. In addition, we systematically assessed the evidence for all previously reported possible monogenic causes of male infertility, using a framework designed for a more appropriate clinical interpretation of disease genes. Search Methods: We performed a literature search according to the PRISMA guidelines up until 1 July 2020 for publications in English, using search terms related to 'male infertility' in combination with the word 'genetics' in PubMed. Next, the quality and the extent of all evidence supporting selected genes were assessed using an established and standardised scoring method. We assessed the experimental quality, patient phenotype assessment and functional evidence based on gene expression, mutant in-vitro cell and in-vivo animal model phenotypes. A final score was used to determine the clinical validity of each GDR, across the following five categories: no evidence, limited, moderate, strong or definitive. Variants were also reclassified according to the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines and were recorded in spreadsheets for each GDR, which are available at imigc.org. Outcomes: The primary outcome of this review was an overview of all known GDRs for monogenic causes of human male infertility and their clinical validity. We identified a total of 120 genes that were moderately, strongly or definitively linked to 104 infertility phenotypes. Wider Implications: Our systematic review curates all currently available evidence to reveal the strength of GDRs in male infertility. The existing guidelines for genetic testing in male infertility cases are based on studies published 25 years ago, and an update is far overdue. The identification of 104 high-probability 'human male infertility genes' is a 33% increase from the number identified in 2019. The insights generated in the current review will provide the impetus for an update of existing guidelines, will inform novel evidence-based genetic testing strategies used in clinics, and will identify gaps in our knowledge of male infertility genetics. We discuss the relevant international guidelines regarding research related to gene discovery and provide specific recommendations to the field of male infertility. Based on our findings, the IMIGC consortium recommend several updates to the genetic testing standards currently employed in the field of human male infertility, most important being the adoption of exome sequencing, or at least sequencing of the genes validated in this study, and expanding the patient groups for which genetic testing is recommended

Male Infertility and Its Causes in Human

Infertility is one of the most serious social problems facing advanced nations. In general, approximate half of all cases of infertility are caused by factors related to the male partner. To date, various treatments have been developed for male infertility and are steadily producing results. However, there is no effective treatment for patients with nonobstructive azoospermia, in which there is an absence of mature sperm in the testes. Although evidence suggests that many patients with male infertility have a genetic predisposition to the condition, the cause has not been elucidated in the vast majority of cases. This paper discusses the environmental factors considered likely to be involved in male infertility and the genes that have been clearly shown to be involved in male infertility in humans, including our recent findings

Do Smoking, Heavy Physical Activity, and Overweight, Increase The Risk of Male Infertility? A New Evidence From Surakarta, Central JAVA

Background: Male infertility is a global public health issue. Infertility affects an estimated 15% of couples globally, amounting to 48.5 million couples. Males are found to be solely responsible for 20-30% of infertility cases and contribute to 50% of cases overall. This study aimed to investigate the effects of smoking, heavy physical activity, and overweight on the risk of male infertility. Subjects and Method: This was a cross-sectional study conducted in Sekar infertility clinic, Dr. Moewardi hospital, Surakarta, from January to May 2018. A sample of 120 men was selected by fixed disease sampling. The dependent variable was male infertility. The independent variables were age, smoking, physical activity, and body mass index (BMI). The data were collected by questionnaire and analyzed by a multiple logistic regression. Results: Male infertility was associated with older age (b= 4.96; 95% CI= 1.74 to 14.17; p= 0.003), smoking (b= 2.83; 95% CI= 1.17 to 6.84; p= 0.021), heavy physical activity (b= 2.84; 95% CI= 1.14 to 7.06; p= 0.025), and BMI ≥25 (b= 2.88; 95% CI= 1.06 to 7.85; p= 0.038). Conclusion: Male infertility is associated with age, smoking, heavy physical activity, and BMI ≥25. Keywords: infertility, smoking, physical activity, body mass index, men