Risk Of Infertility Research Articles

Association between the age-adjusted visceral adiposity index (AVAI) and female infertility status: a cross-sectional analysis of the NHANES 2013–2018

BackgroundObesity stands as an essential factor contributing to infertility in women. Early identification of obese individuals leads to favorable results for female infertility. The objective of this research is to assess the association between the age-adjusted visceral adiposity index (AVAI) and female infertility.MethodsThis study was conducted using NHANES data from 2013 to 2018, in which 1,231 women aged 20–45 were selected. Infertility was defined by survey questions. AVAI was calculated using anthropometric and serum data. Covariates included demographics and lifestyle factors. Statistical analysis with R, adjusting for covariates, and assessing nonlinearity and cutoff effects.ResultsThe study of 1,231 women from the NHANES database revealed that 11.94% were diagnosed with infertility. Individuals with higher AVAI scores showed increased age, WC, BMI, and reduced HDL levels, with a positive correlation between AVAI and female infertility (OR = 1.42, 95%CI: 1.26–1.60). AVAI quartiles showed a pronounced relationship with female infertility risk, with the highest quartile showing the greatest risk(OR = 9.35,95% CI: 2.96–29.55). Nonlinear and threshold effects in the relationship between AVAI and female infertility were identified, with an inflection point at -9.70. Subgroup analyses indicated significant interactions between AVAI and educational status and BMI, particularly in women with a BMI below 25 kg/m2, where a high AVAI level was closely related to increased infertility risk(OR = 1.92, 95%CI: 1.44–2.58).ConclusionThe study identifies a strong association between elevated AVAI scores and female infertility risk, especially in women with a BMI under 25 kg/m2. This suggests that AVAI could be a valuable predictor in female fertility assessments.

Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population.

Male infertility is a multifactorial disease due to spermatogenesis impairment, with etiology remaining unknown for roughly one-third of infertile cases. Several studies have demonstrated that genetic variants are male infertility risk factors. CFAP43 and TEX14 are involved in the spermatogenesis process. The present study aimed to assess the association between single-nucleotide polymorphisms (SNPs) in CFAP43 (rs17116635 and rs10883979) and TEX14 (rs79813370 and rs34818467) and idiopathic male infertility in a Vietnamese population. A cohort of 206 infertile men and 195 controls were recruited for the study. CFAP43 and TEX14 SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotypes of randomly selected samples, accounting for 10% of the total, were confirmed using Sanger sequencing. The obtained data were analyzed using statistical methods. The results showed that 4 SNPs (rs17116635, rs10883979, rs79813370, and rs34818467) were in accordance with Hardy-Weinberg Equilibrium (HWE; P > .05). CFAP43 rs10883979 and TEX14 rs79813370 were associated with male infertility. For CFAP43 rs10883979, in the recessive model, the combination AA + AG was associated with male infertility when compared to the GG genotype (OR = 0.26; 95% CI: 0.06-0.85; P = .02). For TEX14 rs79813370, a protective effect against infertility risk was identified in the presence of the T allele of rs79813370 when compared to the G allele (OR = 0.48; 95% CI: 0.32-0.72; P < .001). Our results suggest that CFAP43 rs10883979 and TEX14 rs79813370 are likely associated with male infertility in the Vietnamese population, in which the G allele of rs79813370 may be a risk factor for male infertility.

Maternal Hypertension and Fecundability: A Population-Based Cohort Study.

The association of hypertension and blood pressure control with fecundability among women is not yet elucidated. The purpose of this study was to evaluate the hypothesis that maternal preconception hypertension would be associated with reduced fecundability and that blood pressure control could reduce excess risk. Using the National Free Preconception Checkup Projects in Guangdong Province, China, 1422 couples whose female partners had been diagnosed with hypertension and 997 703 reference couples whose female partners were without hypertension were included in this prospective cohort study. Fecundability was measured by time to pregnancy (TTP) and infertility (TTP >12 months). Compared with women without hypertension, those with controlled hypertension (time ratio, 1.47 [95% CI, 1.24-1.73]) or uncontrolled hypertension (time ratio, 1.59 [95% CI, 1.34-1.90]) were associated with prolonged TTP and increased risk of infertility (relative risk, 1.19 [95% CI, 1.09-1.31]; relative risk, 1.24 [95% CI, 1.14-1.34]). However, using instrumental variable analyses, there was no significant association between blood pressure control and TTP (time ratio, 0.68 [95% CI, 0.34-1.36]; P=0.270) or infertility (relative risk, 0.97 [95% CI, 0.70-1.34]; P=0.849) among women with hypertension. These results were consistent in the propensity score matching and inverse probability of treatment weighting analyses. Maternal hypertension, with or without controlled blood pressure, was independently associated with prolonged TTP and an increased risk of infertility. These findings may provide insights for the implementation of preconception hypertension screening and the design of future trials.

The Causal Effect of Urate Level on Female Infertility: A Mendelian Randomization Study.

This study aimed to investigate the causal relationship between urate level and female infertility using Mendelian randomization (MR) analysis. To identify instrumental variables, we selected independent genetic loci associated with serum urate levels in individuals of European ancestry, utilizing data from large-scale genome-wide association studies (GWAS). The GWAS dataset included information on serum urate levels from 288,649 CKDGen participants. Female infertility data, including different etiologic classifications, consisted of 13,142 female infertility patients and 107,564 controls. We employed four MR methods, namely inverse variance weighted (IVW), MR-Egger, weighted median, and weighted model, to investigate the causal relationship between urate levels and female infertility. The Cochran Q-test was used to assess heterogeneity among single nucleotide polymorphisms (SNPs), and the MR-Egger intercept test was employed to evaluate the presence of horizontal pleiotropy. Additionally, a "leave-one-out" sensitivity analysis was conducted to examine the influence of individual SNPs on the MR study. The IVW analysis demonstrated that elevated serum urate levels increased the risk of female infertility (odds ratio [OR] = 1.18, 95% confidence interval [CI]: 1.07-1.33). Furthermore, serum urate levels were found to be associated with infertility due to cervical, vaginal, or other unknown causes (OR = 1.16, 95% CI: 1.06-1.26), also confirmed by other methods. Heterogeneity among instrumental variables was assessed using Cochran's Q-test (p < 0.05), so a random-effects IVW approach was employed in the effects model. The MR-Egger intercept test indicated no presence of horizontal pleiotropy. A "leave-one-out" sensitivity analysis was conducted, demonstrating that no individual SNP had a substantial impact on the overall findings. In the European population, the urate level is significantly and causally associated with an increased risk of female infertility.

Behavior, attitude, perception, and knowledge regarding fertility preservation among Chinese pediatric oncologists: a survey in China.

Clinical specialists are supposed to inform childhood cancer patients of infertility risk and conduct fertility preservation (FP). However, little is known about whether doctors in China are fully prepared. This study aimed to investigate behavior, attitude, perception, and knowledge regarding FP among pediatric oncological specialists in a nation wide survey, to set the stage for improvements in current clinicalpracticepatterns. This study was conducted on physicians and surgeons specialized in pediatric oncology using a questionnaire through theWeChat platform. The behavior, attitude, perception, and knowledge were assessed by Likert questions and results were quantified to obtainscores. Data were then described and analyzed using R and GraphPad. Totally 373 specialists in pediatric tumors were included in the analysis. Hematologists, oncological surgeons, and reproductive medicine specialists won most trusts to be responsible for FP job. Most respondents did not have habits of delivering FP information or cooperating with FP specialists during treatment though they were well equipped with FP knowledge and desired for uniform national guideline for FP procedures. The severity of illness was regarded as the primary barrier of FP delivery. When a doctor was more educated and experienced, he was more likely to have better performance in FP. The total score, the knowledge score, and the single score concerning frequency of patients' inquiry showed aggregational trend on geographic distribution. Chinese pediatric oncologists demonstrated unsatisfactory practice behaviors based upon this self-reporting survey, although their attitude towards FP was generally positive.

L-Cysteine Upregulates Testosterone Biosynthesis and Blood-Testis Barrier Genes in Cultured Human Leydig Cells and THP-1 Monocytes and Increases Testosterone Secretion in Human Leydig Cells.

Leydig cells are the primary source of testosterone or androgen production in male mammals. The blood-testis barrier (BTB) maintains structural integrity and safeguards germ cells from harmful substances by blocking their entry into the seminiferous tubules. L-cysteine is essential to the production of glutathione, a powerful antioxidant crucial to protecting against oxidative stress-induced damage. Animal studies have demonstrated the protective effect of L-cysteine in preventing testicular damage caused by chemicals or radiation. This study examines whether L-cysteine enhances the expression of testosterone biosynthesis and the BTB genes in human Leydig cells and THP-1 monocytes. The Leydig cells and THP-1 monocytes were treated with L-cysteine for 24 h. RNA was extracted following treatment, and the gene expression was analyzed using quantitative RT-PCR. Testosterone levels in the cell supernatant were measured using an ELISA kit. L-cysteine treatment in Leydig cells significantly upregulated the expression of CYP11A1 (p = 0.03) and the BTB genes CLDN1 (p = 0.03), CLDN11 (p = 0.02), and TJP1 (p = 0.02). Similarly, L-cysteine significantly upregulated the expression of CYP11A1 (p = 0.03) and CYP19A1 (p < 0.01), and the BTB genes CLDN1 (p = 0.04), CLDN2 (p < 0.01), CLDN4 (p < 0.01), CLDN11 (p < 0.01), and TJP1 (p = 0.03) in THP-1 monocytes. Further, L-cysteine supplementation increased the testosterone secretion levels in human Leydig cells. The findings suggest that L-cysteine supplementation could be used as an adjuvant therapy to promote the integrity of the BTB genes, testosterone biosynthesis and secretion, and the maintenance of testicular functions, which in turn mitigates the risk of male infertility.

Environmental arsenic exposure and reproductive system toxicity in male and female and mitigatory strategies: a review.

Environmental Arsenic (As) exposure is one of the main health challenges in different area of the world. As is a significant factor responsible to the reproductive system toxicity in both male and female. In this study, the most important effects mechanisms and biomarkers related to environmental exposure to As and the reproductive system toxicity, and infertility risk are reviewed in male and female. The results showed that the most important As-induced reproductive system toxicity in the male were alteration in the quantity and quality of semen, testicular toxicity, oxidative stress, testosterone reduction, and sperm apoptosis. For female were oxidative stress, spontaneous miscarriage, reproductive cycle disruption, decrease in the estradiol, progesterone, and testosterone levels and impair fecundity. The main mechanisms of reproductive system toxicity caused by As exposure in male were, genotoxic effects, reduction of glutathione, disruption of sex hormones, sperm flagellum formation impairment, inhibition of spermatogenesis, disruption of cell signaling pathways, and metabolites disruption. For female were abnormal signaling in gene expression, hormonal homeostasis, As-accumulation in placental tissue and creation of reactive oxygen, disruption in the neurotransmitters balance, and sex hormones disruption. The suitable biomarkers for As-induced reproductive toxicity in male were changes in testosterone, one-carbon and lipid metabolism, noncoding RNAs, and steroid hormone homeostasis, and for female was human chorionic gonadotropin (hCG) changes. Finaly, taking selenium, zinc, silymarin, vitamins (C and E) and phytonutrients can be effective in reducing the As-induced reproductive system toxicity and infertility risk.

Exploring the correlation between homocysteine, red blood cell folate and MTHFRC677T genotypes with female infertility.

Aim: To investigate the association between serum homocysteine (HCY) levels, red blood cell folate (RCF) levels, methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and infertility.Materials & methods: Serum HCY and RCF levels and C677T polymorphism of MTHFR gene were analyzed in 149 infertile patients and 223 women of normal reproductive age with healthy childbirth history.Results: The HCY level of MTHFR C677T TT genotype infertility patients was higher than that of women of normal reproductive age, while the RCF level was not significantly different between the two groups.Conclusion: Serum HCY levels increased in infertility patients, and the MTHFR C677T TT genotype in childbearing-aged women are associated with a higher risk of infertility. The results showed that HCY level and MTHFR C677T genotype were closely related to infertility.

Association between Serum Glycated Hemoglobin Levels and Female Infertility: A Cross-Sectional Survey and Genetic Approach.

Female infertility affects a significant portion of the population, and recent studies suggest a potential link between glycemic control and reproductive health. This study investigates the association between serum glycated hemoglobin (HbA1c) levels and female infertility, utilizing data from the NHANES 2017-2020 and Mendelian randomization (MR) analysis. A cross-sectional study was conducted with 1578 women aged 20-45 who attempted pregnancy for at least one year. Serum HbA1c levels were analyzed in relation to infertility status, with multivariable logistic regression models adjusting for covariates such as age, body mass index, race/ethnicity, education, marital status, hypertension, and hyperlipidemia. Higher HbA1c levels were significantly associated with increased infertility risk. Each 1% increase in HbA1c was linked to higher odds of infertility (adjusted OR: 1.40, 95% CI: 1.15-1.69, p = 0.003). HbA1c levels ≥ 6.5% showed the strongest association. MR analysis employed single-nucleotide polymorphisms as instrumental variables to assess the causal relationship between HbA1c and infertility, confirming a causal relationship between higher genetically predicted HbA1c levels and infertility (OR: 1.82, 95% CI: 1.33-2.49, p = 0.00018). Sensitivity analyses supported the robustness of these findings. Elevated HbA1c levels are associated with an increased risk of female infertility, suggesting the importance of glycemic control in reproductive health management.

Long term exposure to road traffic noise and air pollution and risk of infertility in men and women: nationwide Danish cohort study

ObjectiveTo investigate associations between long term residential exposure to road traffic noise and particulate matter with a diameter <2.5 µm (PM2.5) and infertility in men and women.DesignNationwide prospective cohort study.SettingDenmark.Participants526...

Association between a body shape index and female infertility: a cross-sectional study

BackgroundThe relationship between A Body Shape Index (ABSI) and female infertility is not well understood. ABSI, a novel anthropometric measure, is gaining recognition for its ability to more accurately capture visceral fat characteristics than traditional metrics like BMI. This study aims to explore the association between ABSI and female infertility, considering its potential applications in medical screening and risk assessment.MethodsThis cross-sectional study analyzed data from the NHANES from 2013 to 2020. Female infertility was assessed through reproductive health questionnaires, and ABSI was calculated using waist circumference, BMI, and height. Weighted logistic regression models and trend tests were used to evaluate the association between ABSI and female infertility. Restricted cubic splines (RCS) were employed to explore potential nonlinear relationships. Subgroup analyses were conducted to examine the consistency of the association across various demographic and health-related factors. Sensitivity analyses were also performed, including the exclusion of participants with missing covariate data, the application of propensity score matching, and restricting the analysis to women aged 20–45 years.ResultsThe study included 3,718 participants, 433 of whom were diagnosed with infertility. Higher ABSI was associated with an increased risk of female infertility (OR = 1.56, 95% CI: 1.21-2.00, P = 0.001), as demonstrated by weighted logistic regression and trend tests. Women in the highest ABSI quartile had a significantly higher prevalence of infertility compared to those in the lowest quartile (OR = 1.73, 95% CI: 1.27–2.37, P = 0.001). RCS curves indicated a linear positive relationship between ABSI and infertility risk, with a critical value at 0.079. Subgroup and sensitivity analyses confirmed the stability of these findings.ConclusionThis study demonstrates a positive linear relationship between ABSI and the risk of female infertility. The use of a simple, non-invasive ABSI measurement could facilitate the early identification of high-risk individuals in large-scale screenings, potentially helping to prevent or reduce the incidence of infertility.

Positive Selection Drives the Evolution of the Structural Maintenance of Chromosomes (SMC) Complexes.

Structural Maintenance of Chromosomes (SMC) complexes are an evolutionary conserved protein family. In most eukaryotes, three SMC complexes have been characterized, as follows: cohesin, condensin, and SMC5/6 complexes. These complexes are involved in a plethora of functions, and defects in SMC genes can lead to an increased risk of chromosomal abnormalities, infertility, and cancer. To investigate the evolution of SMC complex genes in mammals, we analyzed their selective patterns in an extended phylogeny. Signals of positive selection were identified for condensin NCAPG, for two SMC5/6 complex genes (SMC5 and NSMCE4A), and for all cohesin genes with almost exclusive meiotic expression (RAD21L1, REC8, SMC1B, and STAG3). For the latter, evolutionary rates correlate with expression during female meiosis, and most positively selected sites fall in intrinsically disordered regions (IDRs). Our results support growing evidence that IDRs are fast evolving, and that they most likely contribute to adaptation through modulation of phase separation. We suggest that the natural selection signals identified in SMC complexes may be the result of different selective pressures: a host-pathogen arms race in the condensin and SMC5/6 complexes, and an intragenomic conflict for meiotic cohesin genes that is similar to that described for centromeres and telomeres.

Association between the composite dietary antioxidant index and infertility: the national health and nutrition examination survey 2013–2020

BackgroundThe use of antioxidant-rich foods to treat female infertility has received significant attention in recent years. The aim of this study was to investigate the potential correlation between the composite dietary antioxidant index (CDAI) and female infertility.MethodsThe participants in the cross-sectional data were women between the ages of 20 and 45 who had complete CDAI-related data and infertility information, which were taken from the National Health and Nutrition Examination Survey (NHANES) conducted between 2013 and 2020. The independent association between CDAI and infertility was investigated using multivariate logistic regression analysis. Trends between the two variables were examined using smoothed curve fitting, and subgroup analysis and interaction tests were conducted.ResultsThe prevalence of infertility was 12.57% of the 3,259 participants included in the study; individuals in higher CDAI quartiles tended to have a lower percentage of infertility. The risk of infertility was 44% lower among individuals in the highest quartile of the CDAI compared to those in the lowest quartile (OR = 0.56, 95%CI: 0.36–0.85, P = 0.0072), and the test for trend was also significant (P for trend = 0.0235). Smoothed curve fitting showed a negative non-linear relationship between CDAI and infertility. Subgroup analysis and interaction tests showed that there was an interaction of BMI in the relationship between CDAI and infertility risk (P for interaction = 0.0497) and that education, PIR, marital status, smoking status, hypertension, diabetes, age at menarche, ever having been treated for pelvic infection, ever having used female hormones, and ever been pregnant had no significant dependence on this negative association (all P for interaction > 0.05).ConclusionThere was a negative non-linear correlation between CDAI and infertility among reproductive-aged women in the US. The risk of infertility may be reduced by increasing the intake of antioxidant-rich foods.

Decoding the pathogenesis of spermatogenic failure in cryptorchidism through single-cell transcriptomic profiling

Cryptorchidism, commonly known as undescended testis, affects 1%-9% of male newborns, posing infertility and testis tumor risks. Despite its prevalence, the detailed pathophysiology underlying male infertility within cryptorchidism remains unclear. Here, we profile and analyze 46,644 single-cell transcriptomes from individual testicular cells obtained from adult males diagnosed with cryptorchidism and healthy controls. Spermatogenesis compromise in cryptorchidism links primarily to spermatogonium self-renewal and differentiation dysfunctions. We illuminate the involvement of testicular somatic cells, including immune cells, thereby unveiling the activation and degranulation of mast cells in cryptorchidism. Mast cells are identified as contributors to interstitial fibrosis via transforming growth factor β1 (TGF-β1) and cathepsin G secretion. Furthermore, significantly increased levels of secretory proteins indicate mast cell activation and testicular fibrosis in the seminal plasma of individuals with cryptorchidism compared to controls. These insights serve as valuable translational references, enriching our comprehension of testicular pathogenesis and informing more precise diagnosis and targeted therapeutic strategies for cryptorchidism.

Factors Influencing the Timing of Ovarian Tissue Cryopreservation in Young Girls.

The aim of this study was to identify pitfalls in ovarian tissue cryopreservation protocol from referral to surgical procedure and to analyze factors associated with chemotherapy exposure of the cryopreserved tissue and decreased ovarian function in a cohort of young girls at high risk of infertility. The study population comprised 200 girls eligible for ovarian tissue cryopreservation between 2002 and 2020 at the Children's Hospital of the University Central Hospital of Helsinki (Finland). Analyses included evaluation of the proportion of patients who underwent ovarian tissue cryopreservation, factors associated with patient selection and timing of ovarian tissue cryopreservation, and ovarian function during long-term follow-up in relation to oncological treatments. Lack of counselling was identified as the major reason for not receiving ovarian tissue cryopreservation. A longer interval from scheduling gonadotoxic therapy to cryopreservation correlated with a higher exposure to alkylating agents of the ovarian tissue. The long-term ovarian function was mainly influenced by age at the time of gonadotoxic treatment. Current selection criteria for ovarian tissue cryopreservation should be implemented in order to stratify patients at risk of infertility and timely identify those at higher risk, especially in relation to age and pubertal stage. Efforts to increase healthcare providers' awareness and facilitate guided timing in relation to the treatment protocols are needed to guarantee early access to ovarian tissue cryopreservation for all patients at high risk of infertility.

LAPAROSCOPIC DIAGNOSIS OF ENDOMETRIOSIS-ASSOCIATED INFERTILITY

The purpose of the study – to generalize the laparoscopic manifestations of genital andextragenital endometriosis in women with infertility, followed by the determination of itsbelonging to international classifications of pathology for the possibility of choosing fullfledged methods of influencing the focus of the disease.Materials and methods. The study was conducted in two stages: a detailed analysis ofscientific studies on the issue of classification of endometriosis R-AFS, Enzian, EFI witha generalization of the main search criteria during laparoscopy; a study based on themedical center «Yuzko» in Chernivtsi, in which 42 women who contacted about infertilitytook part. In the practical part of the work, clinical and paraclinical methods of diagnosis,laparoscopic revision were used, followed by the formation of diagnoses according to themain classifiers of endometriosis, determination of the fertility index and generalizationof the form of endometriosis as a cause of infertility.Research results. Endometriosis is a chronic pathology of the female reproductive system,which often leads to infertility and is accompanied by various clinical manifestations inthe form of pain and menstrual dysfunction. For the purpose of a complete diagnosis ina specific case, an important stage is the determination of the depth and stage of developmentof the endometrioid focus based on the results of laparoscopy according to the classificationproposed by the American Fertility Society (R-AFS classification), Enzian, followed bythe determination of the fertility index (EFI) in order to choose individual managementtactics of each patient. A study was conducted at Yuzko Medical Center, in which 42 womenof various ages who complained of infertility took part. In the course of laparoscopicoperations, various methods of removing endometrioid foci were implemented depending onthe specific clinical case, after which the stage of endometriosis was determined according to the Enzian, R-AFS classification, and a conclusion was formed about the directdependence of the risk of infertility and the depth of the spread of endometriosis foci.Conclusion. The stage and depth of endometriosis plays a decisive role in the developmentof female infertility, which requires careful diagnosis according to modern classificationsand the implementation of a specific treatment program with the aim of developinga natural pregnancy or successful embryo transfer during in vitro fertilization.

Infertility Among Healthcare Professionals: A Comprehensive Review

Introduction: Infertility globally poses significant physical, emotional, social, and economic challenges. Despite extensive research on infertility in the general population, there needs to be more understanding regarding its prevalence and effects on healthcare professionals. This article addresses this gap by providing a comprehensive overview of infertility in the healthcare industry, highlighting its unique aspects and implications. Methods: The search strategy for this literature review yielded 1,323 studies from the following databases: PubMed, Google Scholar, and ScienceDirect. After duplicate removal and screening of the articles using the authors’ inclusion and exclusion criteria, 54 full-text articles were assessed for eligibility. Of these, 21 articles included surveys, cross-sectional, and cohort studies, followed by reviews. Results: Female healthcare workers, especially emergency physicians and surgeons, face higher infertility risks due to occupational stressors, with 76% of female surgeons utilising assisted reproductive technology for conception, well above the general population. Sleep deprivation from shift work exacerbates infertility, while long hours increase pregnancy complications. Hazards like radiation and chemicals contribute to menstrual disorders and congenital anomalies. Gender disparities persist, impacting career and lifestyle choices among otolaryngologists. Discussion: Infertility poses challenges for healthcare professionals, with a limited understanding of male infertility. Female surgeons often delay pregnancy due to training, relying on assisted reproductive technologies. Gender differences in divorce and childbirth rates highlight unique challenges females face, including infertility. Long work hours and occupational hazards further complicate fertility issues. Sleep deprivation affects reproductive hormones, impacting fertility across all ages. Conclusion: Studies indicate that female surgeons face heightened pregnancy risks, underscoring the need for job changes to prioritise parenthood. Career pressures affect female physicians’ decisions to start families, potentially perpetuating gender inequities. Further research on male infertility is crucial for addressing healthcare industry challenges.

Association of Functional Genetic Variations in Uric Acid Transporters with the Risk of Idiopathic Male Infertility: A Genetic Association Study and Bioinformatic Analysis.

Uric acid plays an important role in sustaining and improving sperm morphology, viability, and motility. It is known that SLC2A9 and ABCG2 protein are the main urate transporter and genetic variations in these genes could be associated with the levels of serum uric acid. This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) SLC2A9-rs16890979, SLC2A9-rs3733591, ABCG2-rs2231142, and ABCG2-rs2231137 with male infertility. Additionally, the correlation of these SNPs with the uric acid level in seminal plasma of infertile men was examined. Subsequently, an in silico analysis was performed. In a case-control study, 193 infertile and 154 healthy controls were recruited. After semen sample collection, the uric acid level of seminal plasma was measured by a commercial kit. After genomic DNA extraction from sperm samples, SNPs genotyping was performed by PCR-RFLP method. Lastly, the effects of SNPs on the SLC2A9 and ABCG2 gene function were evaluated by bioinformatics tools. The genetic association study revealed that there are significant associations between rs16890979, rs3733591, rs2231142, and rs2231137 genetic variations and increased risk of male infertility. Also, these variations were associated with oligozoospermia and teratozoospermia, and sometimes with asthenozoospermia. Also, we found that four studied SNPs could be associated with a decreased level of uric acid of seminal plasma in teratozoospermia and asthenozoospermia. Bioinformatic analysis revealed that the mentioned polymorphisms could affect molecular aspects of SLC2A9 and ABCG2 genes. In this preliminary study, the rs16890979, rs3733591, rs2231142, and rs2231137 genetic variations could be considered as genetic risk factors for male infertility by interfering with the uric acid level of seminal plasma.

Potential for Offspring with Varicocele and Pcos

Infertility affects a significant portion of couples worldwide, with 30% of cases attributed to male factors, 30% to female factors, 30% to both partners, and 10% to unknown causes. This study focuses on two common causes of infertility: varicocele in men and Polycystic Ovary Syndrome (PCOS) in women. Varicocele, characterized by the enlargement of veins within the scrotum, disrupts spermatogenesis by increasing testicular temperature, leading to poor sperm quality. PCOS, affecting 5-10% of women of reproductive age, is marked by excessive androgen levels, irregular menstruation, and obesity, significantly raising the risk of infertility. Through case studies and literature review, this research highlights the potential for individuals with varicocele or PCOS to achieve pregnancy with appropriate treatment. The study aims to explore the specific examination and treatment processes required for these conditions and to provide insights into improving fertility outcomes for affected individuals.

Male infertility risk and plasma lipidome: a Mendelian randomization study.

In recent years, the decline in sperm quality in men has become a global trend. There is a close relationship between sperm quality and pregnancy outcome. There is a large body of literature supporting the role of plasma lipidome in male infertility, while the complex mechanisms between them and male infertility are still less clear. Systematic study of the causal relationship between plasma lipidome and MI can help to provide new therapeutic ideas and targets for male infertility. In this study, we used a two-sample Mendelian randomization analysis based on Genome-wide association studies pooled data of 179 causal relationships between plasma lipidome and male infertility. We used employed the inverse variance weighted method as the main analysis to assess causality between exposure and outcome, in addition to MR-Egger, Weighted median as complementary methods, and tests for multiplicity and heterogeneity. We identified 13 plasma lipidome comprising 4 types of plasma lipidome that were associated with male infertility. Among these, 9 plasma lipidome were found to be protective factors, while 4 were risk factors. Notably, the largest proportion of these plasma lipidome were triglyceride types, with Sphingomyelin (d40:1) exhibiting the strongest association with male infertility. These findings contribute to the current better understanding of male infertility and provide new perspectives on the underlying etiology of male infertility as well as prevention and treatment strategies. In addition, clinical trial validation is needed to assess the potential of these plasma lipidome as biomarkers.