Systems Biology in Reproductive Medicine最新文献

{"title":"A novel homozygous variant of <i>AURKC</i> causes macrozoospermia in a Chinese family.","authors":"Jian Zhang, Yijia Zhao, Liwen Deng, Yuchun Wu, Rong Li, Binbin Wang","doi":"10.1080/19396368.2025.2599832","DOIUrl":"10.1080/19396368.2025.2599832","url":null,"abstract":"<p><p>Macrozoospermia is a rare cause of male infertility characterized by a high proportion of sperm with large, irregular heads. In this study, we identified a novel homozygous Aurora kinase C (<i>AURKC</i>) missense variant (c.253G > A (p.Glu85Lys)) in a Chinese infertile man using whole-exome sequencing. Segregation of the <i>AURKC</i> c.253G > A variant within the family was confirmed by Sanger sequencing, and In silico prediction tools suggested that the variant is pathogenic. Sperm ultrastructural abnormalities in the patient were further examined using transmission electron microscopy. Our findings identify a novel pathogenic <i>AURKC</i> variant associated with macrozoospermia, providing potential value for genetic diagnosis and clinical management.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"72 1","pages":"67-72"},"PeriodicalIF":2.2,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145960253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Embryology and clinical outcomes after sperm preparation using microfluidic sperm sorting versus density gradient centrifugation.","authors":"Hanna Balakier, Iryna Kuznyetsova, Banafshe Gholamhoseini, Aizul Chaudary, Samantha Yee, Clifford L Librach","doi":"10.1080/19396368.2026.2662259","DOIUrl":"10.1080/19396368.2026.2662259","url":null,"abstract":"<p><p>This retrospective study aims to compare laboratory and clinical outcomes of a microfluidic sperm sorting device (ZyMōt) versus a standard density gradient centrifugation (DGC) technique in ICSI cycles using autologous or donor oocytes. A total of 1,091 cycles utilizing ZyMōt and 1,176 cycles employing DGC method were included to investigate fertilization rates, blastocyst developmental rates, embryo euploidy, clinical pregnancy/live birth rates (CPR/LBR) after single embryo transfer. The ZyMōt group yielded lower DNA fragmentation and higher motility in spermatozoa compared to DGC method. Fertilization was increased (81.0% vs.78.7%; P =0.003), and the proportion of day 5 blastocysts was significantly greater using ZyMōt than the DGC method (25.6 % vs. 18.3.1%; P <0.001). The hierarchical multivariate regression models revealed that ZyMōt sperm processing contributed significantly to increased blastulation rates than the DGC method ß = 0.11, P<0.001), after adjusting for female age, male age, and infertility diagnosis. Sperm processed by ZyMōt did not enhance blastocyst euploidy rates in all stratified ages (20-40 years old). However, the cumulative CPR per retrieval using euploid embryos were noticeably higher in ZyMōt versus DGC cohorts in both oocyte donor (82.0% and 59.6%; P= 0.0042) and non-donor (73.6% and 64.5%; P = 0.0152) groups. Similarly, LBR in ZyMōt were improved significantly in both donor and non-donor groups (68.0% versus 49.7%; P= 0.0252, and 62.6% versus 52.3%; P = 0.0099, respectively). Our findings demonstrate that ZyMōt offers several advantages over the conventional DGC approach, resulting in enhanced fertilization rates, significantly increased blastocyst developmental potential and improved clinical outcomes.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"72 1","pages":"252-267"},"PeriodicalIF":2.0,"publicationDate":"2026-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147875619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic alterations in infertile men seeking assisted reproduction: associations with semen quality.","authors":"Vinícius Contrucci Dantas Segarra, Lívia Nardi Lopes, Bárbara Gasparini Bernardes, Rita Luiza Peruquetti","doi":"10.1080/19396368.2025.2590751","DOIUrl":"10.1080/19396368.2025.2590751","url":null,"abstract":"<p><p>Male infertility accounts for approximately half of all infertility cases and is often linked to chromosomal abnormalities. While numerical and structural rearrangements are well recognized, the clinical significance of chromosomal polymorphisms remains unclear. To characterize the spectrum of cytogenetic alterations - including polymorphisms, structural rearrangements, and numerical changes - in men presenting with infertility and to assess their incidence on men with semen abnormalities. In this retrospective observational study, peripheral blood samples from 62 patients with detected cytogenetic alterations were collected at Genos Laboratory (Unimed Diagnostic Center) in Bauru, Brazil, between January 2015 and June 2020. Semen analysis reports for these patients were retrieved from the Fertility Clinic in Bauru, Brazil. Following specialist evaluation, a final cohort of 38 men diagnosed with infertility was analyzed. Results: Chromosomal polymorphisms were the most frequent alteration (77.4%), followed by structural rearrangements (17.7%) and numerical changes (4.8%). Among polymorphism carriers, 58% exhibited at least one abnormal semen parameter, most commonly asthenozoospermia (42%), teratozoospermia (38%), and oligozoospermia (33%). The 46,XYqh⁺ variant predominated (50%), with half of these cases demonstrating semen abnormalities. Double polymorphisms (46,XY9qh⁺ and 46,XY22ps⁺; <i>n</i> = 8) were uniformly associated with oligozoospermia and teratozoospermia. Structural alterations - pericentric inversion of chromosome 9 and Robertsonian translocation rob(13;14)(q10q10) - were found in 11 patients; 72% of these also had semen abnormalities. Numerical alterations were rare but associated with abnormal semen parameters in 66% of cases. Chromosomal polymorphisms, though traditionally viewed as benign, were frequently detected in compromised semen quality in this cohort. Structural and numerical rearrangements, while less common, were detected in a higher proportion of abnormal semen parameters. These findings underscore the value of comprehensive cytogenetic screening in the evaluation of male infertility.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"589-597"},"PeriodicalIF":2.2,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling the role of miRNAs in Diminished Ovarian Reserve: an in silico network approach.","authors":"Costanza Cimini, Angela Taraschi, Marina Ramal-Sanchez, Alessia Colosimo, Carlo Di Carlo, Ramses Belda-Perez, Luca Valbonetti, Giulia Capacchietti, Nicola Bernabò, Barbara Barboni","doi":"10.1080/19396368.2024.2434268","DOIUrl":"10.1080/19396368.2024.2434268","url":null,"abstract":"<p><p>MicroRNAs (miRNAs) have acquired an increased recognition to unravel the complex molecular mechanisms underlying Diminished Ovarian Reserve (DOR), one of the main responsible for infertility. To investigate the impact of miRNA profiles in granulosa cells and follicular fluid, crucial players in follicle development, this study employed a computational network theory approach to reconstruct potential pathways regulated by miRNAs in granulosa cells and follicular fluid of women suffering from DOR. Available data from published research were collected to create the FGC_MiRNome_MC, a representation of miRNA target genes and their interactions. 365 hubs were identified within the network, representing potential key regulators, and 210 nodes that act as both hubs and bottlenecks (H&BN nodes), suggesting that they may control the information flow within the network. GO enrichment analysis of the 210 H&BN nodes revealed their involvement in fundamental cellular processes relevant to ovarian function. In particular, the cluster analysis identified several shared pathways between cluster 1 and cluster 2 involved in the RAS/MAPK pathway, which plays a critical role in cell proliferation, differentiation and survival. These findings suggest that miRNAs play a significant role in DOR and highlight the potential of the RAS/MAPK pathway as a target for further investigation. Additionally, the genes identified as both hubs and bottlenecks revealed interesting connections to reproductive health in KO mice models. This <i>in silico</i> approach provides valuable insights into potential biomarkers and therapeutic targets for age-related reproductive disorders.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"2-12"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative assisted reproductive technologies in human and veterinary medicine: implications for reproductive success.","authors":"Sabine Kölle","doi":"10.1080/19396368.2025.2564146","DOIUrl":"10.1080/19396368.2025.2564146","url":null,"abstract":"<p><p>Assisted reproductive technologies (ART) have been widely and successfully used in both humans and livestock. However, only in humans and cattle have <i>in vitro</i> fertilization (IVF), <i>in vitro</i> embryo culture (IVC), and embryo transfer (ET) developed into large commercial sectors. The major differences between human and animal ART include the rationale of the treatment and the patient groups. While ART is used to treat infertility in humans, veterinary ART aims to maximize genetic gain and minimize generation intervals. Human ART is filled with societal, cultural, and emotional challenges, whereas veterinary ART aims to optimize economic success. While human ART deals with selected patients, including older individuals, veterinary ART focuses on young animals and a wide variety of species with different reproductive traits. Both human and veterinary ART face the shared challenge of establishing reliable tools to assess sperm fertilizing ability, evaluate oocyte developmental capacity, and support early embryo-maternal communication, which is pivotal for successful pregnancy. A holistic approach and comprehensive understanding of the underlying mechanisms and technologies across species could provide valuable insights for increasing ART success rates in both humans and animals.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"485-503"},"PeriodicalIF":2.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics integration and precision medicine in chronic prostatitis: from molecular mechanisms to clinical translation.","authors":"Ke Zhang, Haoyang Dong, Tingsong Bian","doi":"10.1080/19396368.2025.2586609","DOIUrl":"https://doi.org/10.1080/19396368.2025.2586609","url":null,"abstract":"<p><p>Chronic prostatitis (CP) imposes a considerable global disease burden, with notable regional disparities in China and significant associated healthcare costs. Traditional classification systems, particularly type III subtypes, are hindered by high symptom heterogeneity and low treatment response rates. Recent advances in multi-omics approaches have elucidated the molecular mechanisms underlying CP, including genomic and epigenetic regulation, transcriptomic and immune microenvironment interactions, metabolomic and microbiome interplay, as well as proteomic and neural remodeling. Precision diagnostic techniques are evolving, integrating multi-omics biomarkers, imaging, and functional assessments for molecular subtyping and clinical translation. Targeted therapeutic strategies are emerging, focusing on immune microenvironment modulation, neuro-immune cross-intervention, and microbiome modulation. However, challenges in clinical translation remain, including technical bottlenecks in integrating dynamic multi-omics data and limitations of animal models. To address these issues, complementary strategies between real-world evidence and traditional randomized controlled trials are proposed. Looking forward, future directions include the development of AI-driven multimodal high-precision diagnostic systems and innovative combination therapies involving targeted, immunotherapeutic, and neuro-stimulatory approaches.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"618-629"},"PeriodicalIF":2.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reproductive microbiota in humans: characterization and role in infertility.","authors":"Rebecca Poole, Dallas Soffa, Kyle Hickman, Olivia Ognibene, Matthew Stuehr","doi":"10.1080/19396368.2025.2511323","DOIUrl":"https://doi.org/10.1080/19396368.2025.2511323","url":null,"abstract":"<p><p>Advancements in next generation sequencing technologies, including 16S rRNA amplicon sequencing, have vastly expanded our understanding of reproductive microbiota and its role in fertility. For example, in humans, the bacterial genus of <i>Lactobacillus</i> is the overwhelmingly dominant commensal bacterium within reproductive tissues and fluids, such as the vagina, and is an indicator of fertility in women. Shifts away from <i>Lactobacillus</i> allow for opportunistic pathogenic bacteria to inhabit the reproductive tract and result in dysbiosis and infertility. The goal of this review is to explore human reproductive microbiota including bacteria that commensally inhabit reproductive tissues and fluids as well as opportunistic pathogenic bacteria that can result in dysbiosis, infertility, and disease. Continued exploration of the microbiome and its association with reproductive health will aid in the development of targeted therapeutic strategies to positively modulate bacteria and improve fertility.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"229-245"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating male infertility through testicular biopsy: outcomes, predictive parameters, and surgical innovation.","authors":"Maria Filiponi, Athanasios Zachariou","doi":"10.1080/19396368.2025.2551006","DOIUrl":"10.1080/19396368.2025.2551006","url":null,"abstract":"<p><p>Advancements in the management of male infertility, particularly azoospermia, have significantly improved with the evolution of testicular biopsy techniques. This review explores the clinical applications and outcomes of three primary methods: testicular sperm aspiration (TESA), testicular sperm extraction (TESE), and microdissection TESE (mTESE). TESA remains a practical, minimally invasive solution for obstructive azoospermia, offering high success rates. However, its limited effectiveness in non-obstructive azoospermia (NOA) highlights the need for more refined approaches. mTESE has emerged as the preferred method in NOA cases due to its microsurgical precision, higher sperm retrieval rates, and reduced damage to testicular tissue. Multiple factors influence the success of these procedures, including patient age, testicular volume, hormone levels, and underlying histopathology. The identification of reliable predictive biomarkers such as follicle-stimulating hormone (FSH), inhibin B, anti-Müllerian hormone (AMH), and TEX101 has enhanced patient selection and procedural planning. Additionally, imaging techniques and metabolite profiling are emerging as valuable non-invasive tools for predicting outcomes. The integration of AI and machine learning into clinical practice further supports individualized treatment strategies by improving predictive accuracy and intraoperative decision-making. Despite clinical success, ethical and psychosocial considerations remain central to the comprehensive care of affected individuals. Financial constraints and unequal access to specialized reproductive services also pose challenges. Future efforts should prioritize the development of validated predictive models, the expansion of biomarker research, and the implementation of standardized clinical protocols. A multidisciplinary, patient-centered approach will be essential in optimizing outcomes for men facing infertility due to azoospermia.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"402-415"},"PeriodicalIF":2.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of male contraceptive efficacy of <i>Caesalpinia pulcherrima</i> (L.) sw. in human and rat: an <i>ex-vivo</i> study.","authors":"Pampa Lohar, Dibya Pal, Tanusree Mondal, Shibani Das, Puja Das, Debidas Ghosh","doi":"10.1080/19396368.2025.2455059","DOIUrl":"10.1080/19396368.2025.2455059","url":null,"abstract":"<p><p>The study focused on the spermicidal and anti-androgenic effects of aqueous-ethanolic (60:40) extract of Caesalpinia pulcherrima leaves (AEECPL) in human and rat samples from the viewpoint of its contraceptive efficacy through ex-vivo study. Six fertile adult males were selected randomly for semen collection. Parallelly sperm samples were collected by epididymal washing from six rats. Testes, epididymis, and liver were dissected from rats. Biological samples were divided into control, 1, 2, and 4 mg/ml of AEECPL exposed groups. Relevant spermiological, steroidogenic enzymes, oxidative stress, and metabolic toxicity sensors were evaluated. All the spermiological sensors were decreased significantly in dose and duration-dependent manners, and the number of comet positive spermatozoa were increased in dose-dependent mode in AEECPL exposed groups against the control both in human and rat. Activities of Δ5,3β-hydroxysteroid dehydrogenase (HSD), 17β-HSD in testis, kinetics of superoxide dismutase both in testis and epididymis were significantly decreased along with the elevation in the level of thiobarbituric acid reactive substances in AEECPL exposed groups. Activities of glutamate oxaloacetate transaminase, glutamate pyruvate transaminase, acid phosphatase, and alkaline phosphatase in above mentioned tissues showed no significant difference among the control and AEECPL exposed groups, indicating its non-toxic effects on reproductive and metabolic tissues. The results presenting the prominent contraceptive preventing potentiality of the said extract both in human and rat. The optimal effect was noted at 2 mg/ml dose. In-depth investigations are required through in-vivo studies on animal model to know the genomic mode of action for the execution of male contraceptive activity.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"43-53"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of polycystic ovary syndrome using machine learning with SFS and Boruta feature selection: an explainable AI approach.","authors":"Monali Ramteke, Shital Raut","doi":"10.1080/19396368.2025.2560839","DOIUrl":"https://doi.org/10.1080/19396368.2025.2560839","url":null,"abstract":"<p><p>Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder affecting numerous women of reproductive age, characterized by a variety of clinical and biochemical features. Accurate classification and diagnosis of PCOS remains challenging due to the heterogeneous nature of its manifestations. This study introduces a robust machine learning framework that combines a voting ensemble model with two distinct feature selection techniques, Sequential Forward Selection (SFS) and Boruta, to enhance the accuracy in classifying PCOS. We also utilized Explainable Artificial Intelligence (XAI) techniques, such as Shapley Additive Explanations (SHAP), Local Interpretable Model-agnostic Explanations (LIME), Partial Dependence Plot (PDP), AnchorTabular, and Permutation Importance, to interpret the ensemble model. These methods provide essential insights into the significance of key features for predicting PCOS patients. Results show that the proposed ensemble learning model achieved optimal performance with the feature selection technique used. Specifically, the proposed voting ensemble classifier and features picked by SFS had the highest accuracy among all models. This method can help in PCOS diagnosis and support early intervention.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"439-460"},"PeriodicalIF":2.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}