Journal of Assisted Reproduction and Genetics最新文献_第2页

Congenital complex uterine anomalies carry complex complications: an evaluation of ART outcomes. 先天性复杂子宫异常携带复杂的并发症：ART结果的评估。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-10-02 DOI: 10.1007/s10815-025-03652-w

Keizra Mecklai, Emily Weidenbaum, Elise Heisler, David McCulloh, M Elizabeth Fino, Christopher Eswar, Jennifer Blakemore

{"title":"Congenital complex uterine anomalies carry complex complications: an evaluation of ART outcomes.","authors":"Keizra Mecklai, Emily Weidenbaum, Elise Heisler, David McCulloh, M Elizabeth Fino, Christopher Eswar, Jennifer Blakemore","doi":"10.1007/s10815-025-03652-w","DOIUrl":"https://doi.org/10.1007/s10815-025-03652-w","url":null,"abstract":"Purpose: To examine assisted reproductive technology (ART) outcomes in patients with congenital complex uterine anomalies (CUA) as well as the impact of surgical repair on these outcomes.Methods: This retrospective cohort study analyzed 46 patients with CUA who underwent 130 embryo transfer cycles at a large academic fertility center from 2000 to 2024. Outcomes were compared between patients who underwent surgical repair and those who did not.Results: The overall live birth and ongoing pregnancy rate after fresh or frozen embryo transfer was 36.9% (48/130). Cesarean section was the most common mode of delivery (61.7%). Pregnancy complications occurred in 38.3% of live births. Live birth and ongoing pregnancy rates did not differ significantly between patients with and without surgical repair (32.6% vs. 39.2%, p = 0.57).Conclusions: Patients with complex uterine anomalies experience lower live birth rates compared to the center's average and face a high risk of pregnancy complications. Surgical repair of CUA does not significantly improve ART outcomes. Personalized counseling regarding goals and risks is crucial for CUA patients undergoing ART.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The silent crisis: investigating the impact of environmental pollutants on embryo-fetal development: a narrative review of the Group of Special Interest for Environment of the Italian Society of Fertility and Sterility and Reproductive Medicine. 无声的危机：调查环境污染物对胚胎-胎儿发育的影响：意大利生育、不育和生殖医学学会环境特别关注小组的叙述审查。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-10-01 DOI: 10.1007/s10815-025-03653-9

Alessandra Alteri, Stefano Canosa, Andrea Di Nisio, Carlo Foresta, Valerio Pisaturo

{"title":"The silent crisis: investigating the impact of environmental pollutants on embryo-fetal development: a narrative review of the Group of Special Interest for Environment of the Italian Society of Fertility and Sterility and Reproductive Medicine.","authors":"Alessandra Alteri, Stefano Canosa, Andrea Di Nisio, Carlo Foresta, Valerio Pisaturo","doi":"10.1007/s10815-025-03653-9","DOIUrl":"https://doi.org/10.1007/s10815-025-03653-9","url":null,"abstract":"Purpose: Environmental pollution is a growing global concern, yet its effects on reproductive health remain poorly understood. While numerous epidemiological studies have identified strong associations between exposure to pollutants and adverse reproductive outcomes, the precise biological mechanisms underlying these effects remain elusive.Methods: A comprehensive literature search was performed by two reviewers using the US National Library of Medicine (NCBI Pubmed) up to August 15, 2025.Results: Chemical and physical contaminants, including endocrine-disrupting chemicals (EDCs), particulate matter (PM), heavy metals, and heat stress (HS), have been implicated in disrupting of essential reproductive processes, such as gametogenesis, fertilization, implantation, and embryogenesis. Despite accumulating evidence, the complexity of these interactions has hindered the development of targeted interventions and effective regulatory policies.Conclusions: This review argues that investment in reproductive environmental research is not only necessary but urgent. The pervasive nature of pollution and its potential long-term consequences on fertility and pregnancy outcomes warrant an intensified focus on mechanistic studies, improved environmental monitoring, and the integration of toxicological data into reproductive medicine. It is imperative to prioritize research that can provide the necessary insights to mitigate these threats. This paper highlights the knowledge gaps, emphasizing the need for a multidisciplinary approach that combines epidemiology, toxicology, and molecular biology to inform policies and safeguard reproductive health.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pre-incubation with levocarnitine alleviates vitrification and thawing damage in mouse oocytes. 左卡尼汀预孵育可减轻小鼠卵母细胞玻璃化和解冻损伤。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-30 DOI: 10.1007/s10815-025-03681-5

Shutian Jiang, Jing Zhang, Xueyi Jiang, Yu Tao, Jing Yang, Kanru Zhao, Nannan Li, Luping Feng, Haoran Shen, Yao Wang

{"title":"Pre-incubation with levocarnitine alleviates vitrification and thawing damage in mouse oocytes.","authors":"Shutian Jiang, Jing Zhang, Xueyi Jiang, Yu Tao, Jing Yang, Kanru Zhao, Nannan Li, Luping Feng, Haoran Shen, Yao Wang","doi":"10.1007/s10815-025-03681-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03681-5","url":null,"abstract":"Background: Vitrification of mammalian oocytes is an important means of preserving female reproductive capacity. However, existing technical solutions cannot guarantee recovery rate, fertilization, and developmental potential of vitrified oocytes. Recognized consequences include energy consumption during vitrification and thawing processes, and damage to organelles caused by the formation of ice crystals. In this study, we explore whether incubating with levocarnitine (LC) before vitrification can improve its warming outcomes.Results: Supplementing 2 mg/mL LC can significantly improved recovery rate of warmed oocytes (p < 0.01) and shortened morphological recovery time (p < 0.001). Gene difference analysis showed that supplementing LC altered gene expression related to energy metabolism, autophagy, and cytoskeleton. Further experimental testing showed that supplementing LC increased adenosine triphosphate (ATP) levels (p < 0.05), decreased reactive oxygen species (ROS) levels (p < 0.001), and maintained the stability of the spindle chromosome structure. On this basis, both lipid oxidation (p < 0.01) and autophagy levels (p < 0.0001) in oocytes decreased, and the quality of embryos developed from warmed oocytes was improved (p < 0.05).Conclusion: Supplementation of LC to mouse oocytes before vitrification can improve their warming outcomes, which is related to the changes in lipid droplet distribution in oocytes caused by LC by improving lipid metabolism.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of sperm DNA fragmentation in reproduction: a SWOT analysis. 精子DNA片段化在生殖中的作用：SWOT分析。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-27 DOI: 10.1007/s10815-025-03645-9

Joaquín Llácer, Antonio Requena, Miguel Ángel Checa, José Bellver, Ernesto Bosch, Juan José Espinós, Francisco Fábregues, Ana Isabel Ortega, Juan Fontes, Juan Antonio García-Velasco

{"title":"The role of sperm DNA fragmentation in reproduction: a SWOT analysis.","authors":"Joaquín Llácer, Antonio Requena, Miguel Ángel Checa, José Bellver, Ernesto Bosch, Juan José Espinós, Francisco Fábregues, Ana Isabel Ortega, Juan Fontes, Juan Antonio García-Velasco","doi":"10.1007/s10815-025-03645-9","DOIUrl":"https://doi.org/10.1007/s10815-025-03645-9","url":null,"abstract":"Background: Male factors account for up to 50% of infertility cases worldwide. Among the various etiologies, sperm DNA damage has received increasing attention through extensive research on sperm function tests. However, recommendations for its routine inclusion in infertility assessment remain unclear, and the clinical scenarios where such testing may be beneficial are still uncertain.Objective: To evaluate the implications of sperm DNA damage testing and treatment in reproductive medicine.Study design: A SWOT (Strengths, Weaknesses, Opportunities, and Threats) analysis was conducted to assess the screening and management of sperm DNA fragmentation (SDF) in infertile men. Evidence from the reviewed literature was graded according to Oxford criteria for clinical studies to ensure objectivity.Results: SDF may contribute to certain cases of male infertility; however, reproductive outcomes are strongly influenced by additional factors, particularly oocyte quality and the method of conception. The absence of standardized cut-off values and low reproducibility across available assays represent major limitations. These weaknesses restrict the clinical utility of SDF testing, potentially increase healthcare costs, and may lead to inappropriate treatments.Conclusion: SDF testing may provide insights into male infertility, but its clinical application is currently limited. Well-designed randomized controlled trials are needed to clarify its role and to establish evidence-based recommendations for its integration into assisted reproductive protocols.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel mutations in transducin-like enhancer of split 6 cause infertility in women with embryonic arrest. 分裂6的传导蛋白样增强子的新突变导致胚胎骤停妇女不孕。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-27 DOI: 10.1007/s10815-025-03651-x

Jifan Tan, Yue Jiang, Ching Wan, Kehan Zhu, Yan Xu, Yanwen Xu, Jia Huang

{"title":"Novel mutations in transducin-like enhancer of split 6 cause infertility in women with embryonic arrest.","authors":"Jifan Tan, Yue Jiang, Ching Wan, Kehan Zhu, Yan Xu, Yanwen Xu, Jia Huang","doi":"10.1007/s10815-025-03651-x","DOIUrl":"https://doi.org/10.1007/s10815-025-03651-x","url":null,"abstract":"Purpose: Embryonic arrest is a major cause of failure in assisted reproductive technologies. This study investigates the genetic basis of embryonic arrest in three unrelated patients and explores associated mechanisms.Methods: Whole exome sequencing (WES) was used to identify mutations in the transducin-like enhancer of split 6 (TLE6) gene. Embryonic development was monitored using time-lapse monitoring, and immunofluorescence quantified TLE6 expression. WES and whole genome sequencing (WGS) further analyzed mutation sites. Mini-gene assays were utilized to assess the impact of these mutations on gene expression.Results: TLE6 mutations were found 3.19% of infertile individuals with embryonic arrest, with arrest consistently occurring before the third cleavage division. Immunofluorescence analysis revealed reduced TLE6 protein expression in embryos. Four novel TLE6 mutation sites were identified: a homozygous splicing mutation (c.1386 + 1G > A), a compound heterozygous mutation consisting of a frameshift (c.859 dup), a splicing (c.51G > A), and a frameshift mutation (c.1589dup). Mini-gene assays revealed an exon 14 deletion due to c.1386 + 1G > A mutation and an exon 2 deletion due to c.51G > A mutation. In one proband, WES identified only a heterozygous variant (c.1589dup), whereas WGS additionally detected a heterozygous variant (NC_000019.9:g.2976171A > C) in the 2 kb upstream region of TLE6, suggesting potential regulatory roles.Conclusion: This study identifies 4 novel TLE6 mutations associated with early embryonic arrest, thereby expanding the mutation spectrum in patients with TLE6 mutations and providing insights for genetic counseling. Additionally, this study highlights the limitations of WES and suggests that WGS could be used to complement and extend the findings of WES.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145175589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations. 接受者父母是否有权获得配子捐赠者的原始基因组数据？临床、法律和伦理方面的考虑。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-27 DOI: 10.1007/s10815-025-03666-4

Shiri Shkedi-Rafid, Aviad Raz, Maya Sabatello, Barbara Prainsack, Roy Gilbar

{"title":"Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations.","authors":"Shiri Shkedi-Rafid, Aviad Raz, Maya Sabatello, Barbara Prainsack, Roy Gilbar","doi":"10.1007/s10815-025-03666-4","DOIUrl":"https://doi.org/10.1007/s10815-025-03666-4","url":null,"abstract":"Background: Genomic sequencing yields vast amounts of data, and the access of patients and research participants to their raw genomic data raises ethical and practical dilemmas.Purpose: This paper aims to examine a challenging, underexplored question: whether gamete donors' raw data should be provided to recipient parents.Methods: Using a clinical case, we explore the key ethical, legal, and clinical implications of such access, weighing the advantages, disadvantages, and potential alternatives.Results: Ethical implications include the feasibility of meaningful informed consent from donors for complex genetic testing, sometimes years after donation; privacy considerations; the type of medical information recipients can or should hold on donors; potential conflicts of interest between the donor and the child; and the potential for raised costs and commercial interests. Clinical implications involve the implementation of systems of storing donors' raw data and devices of re-contacting past donors. Legal aspects include the informed consent of gametes donors to disclose their raw data to recipient parents and privacy protections, including their right to keep their raw data in confidence.Conclusion: We advocate a cautious approach that favors clinically mediated access over unrestricted parental access.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of luteinizing hormone in the management of female infertility: A French Delphi consensus. 促黄体激素在女性不孕症治疗中的作用：法国德尔菲共识。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-26 DOI: 10.1007/s10815-025-03647-7

Isabelle Cédrin-Durnerin, Julie Labrosse, Claire Castello Bridoux, Valérie de Buyst, Ségolène Paillet, Muriel Lubrano, Théo Cerceau, Stéphane Bouée, Bruno Salle, François Olivennes, Laetitia Jacquesson

{"title":"The role of luteinizing hormone in the management of female infertility: A French Delphi consensus.","authors":"Isabelle Cédrin-Durnerin, Julie Labrosse, Claire Castello Bridoux, Valérie de Buyst, Ségolène Paillet, Muriel Lubrano, Théo Cerceau, Stéphane Bouée, Bruno Salle, François Olivennes, Laetitia Jacquesson","doi":"10.1007/s10815-025-03647-7","DOIUrl":"https://doi.org/10.1007/s10815-025-03647-7","url":null,"abstract":"Purpose: To clarify clinical practice with regard to LH requirements and identify patient profiles that could benefit from luteinizing hormone (LH)-follicle-stimulating hormone co-treatment.Methods: In a Delphi survey, a scientific advisory board elaborated 28 statements on the role of luteinizing hormone (LH) in folliculogenesis (n = 7 statements), the utility of LH for follicular development prior to ovulation induction/intrauterine insemination protocols (n = 3), the utility of LH for follicular development prior to agonist or pretreated antagonist protocols in IVF (n = 6), the source and type of LH activity (n = 3), and patient profiles (n = 9). These statements were reviewed and clarified by two pilot experts. A panel of 26 French ART experts voted in two rounds. Full consensus and consensus were defined respectively as 100% and > 66% agreement. Statements could be reformulated between the two rounds of voting.Results: A full consensus or a consensus was reached for 24 of the 28 statements. All the statements concerning the pathophysiological role of LH in folliculogenesis achieved a consensus. The experts endorsed the basic science and emphasized the need to consider inter-individual variability in the clinic. Recombinant human LH was considered to optimize outcomes in a range of patient profiles: a suboptimal ovarian response to IVF stimulation, desensitization following a long agonist protocol, advanced maternal age (> 35), polymorphisms, low body mass index, and women with hypogonadotropic hypogonadism.Conclusions: This Delphi consensus from a representative group of French experts provided real-world guidance on LH's crucial importance in folliculogenesis and the patient profiles for which LH is beneficial.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145175636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How far is the clinic? Urbanicity and sociodemographic variation in the distance to assisted reproductive technology clinics in the USA. 诊所有多远？美国城市和社会人口统计学差异对辅助生殖技术诊所的影响。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-26 DOI: 10.1007/s10815-025-03680-6

Katherine Tierney, Kathleen Baker

{"title":"How far is the clinic? Urbanicity and sociodemographic variation in the distance to assisted reproductive technology clinics in the USA.","authors":"Katherine Tierney, Kathleen Baker","doi":"10.1007/s10815-025-03680-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03680-6","url":null,"abstract":"Purpose: To quantify the drive time distance to ART clinics overall and by sociodemographic groups and urbanicity for US women ages 15-50.Methods: Retrospective cross-sectional population-based study. Publicly reported locations of ART clinics (2021) (n = 451), sociodemographic data from the American Community Survey (2020), and geographic boundaries from the US Census (2020) were used to conduct descriptive analyses and urbanicity-stratified multilevel multivariable logistic regression analyses.Results: In total, 41.9% of women ages 15-50 in the USA were more than 30 min from an ART clinic. Results varied by urbanicity, with 33.9%, 98.7%, and 98.9% of women in metropolitan, micropolitan, and rural tracts more than 30 min from an ART clinic, respectively. Similar variation in the proportion of women in proximity to ART clinics was observed jointly with urbanicity and sociodemographic indicators. Urbanicity-stratified multivariable multilevel models testing the association between tract sociodemographic and population density characteristics and drive time distance to an ART clinic also showed variation across models. For metropolitan areas, positive associations between geographic proximity and a higher proportion of the tract that were Black, Asian, Other race, Hispanic, foreign-born, and with a bachelor's degree or higher were observed. By contrast, few or no significant associations with race, ethnicity, or nativity were observed in micropolitan or rural areas.Conclusions: Geographic barriers to ART care are widespread but are not fully aligned with observed disparities in treatment utilization, suggesting this barrier may not function as a primary barrier for all underserved groups. Further, urbanicity is an important and understudied component of geographic access to ART.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel CCDC188 variants cause acephalic spermatozoa syndrome with poor intracytoplasmic sperm injection outcome. 新型CCDC188变异可引起头型精子综合征，伴胞浆内单精子注射效果差。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-26 DOI: 10.1007/s10815-025-03659-3

Xiaoyu Yang, Yu Wang, Kexin Yu, Mingfei Xiang, Jingjing Zhang, Zongliu Duan, Yiru Zhou, Xiaomin Zha, Honglin Li, Fengsong Wang, Yunxia Cao, Fuxi Zhu

{"title":"Novel CCDC188 variants cause acephalic spermatozoa syndrome with poor intracytoplasmic sperm injection outcome.","authors":"Xiaoyu Yang, Yu Wang, Kexin Yu, Mingfei Xiang, Jingjing Zhang, Zongliu Duan, Yiru Zhou, Xiaomin Zha, Honglin Li, Fengsong Wang, Yunxia Cao, Fuxi Zhu","doi":"10.1007/s10815-025-03659-3","DOIUrl":"https://doi.org/10.1007/s10815-025-03659-3","url":null,"abstract":"Purpose: To identify novel CCDC188 variants in acephalic spermatozoa syndrome (ASS) patients and investigated the potential effect on the outcome of intracytoplasmic sperm injection (ICSI).Methods: Sixteen patients diagnosed as ASS by morphological analysis were recruited in the first half of 2023. Whole exome sequencing (WES) and Sanger sequencing were performed to identify the genetic cause and define the hereditary mode, using genomic DNA extracted from peripheral blood. Morphological characteristics of sperm were revealed by hematoxylin and eosin (H&E) staining and transmission electron microscopy (TEM). Pathogenicity of variants was evaluated in silico, and further confirmed in vitro and vivo by western blotting (WB), reverse transcript-polymerase chain reaction (RT-PCR), quantitative real-time PCR (qPCR), and immunofluorescence (IF). ICSI was performed with a standard operation procedure as the treatment strategy.Results: Two novel variants in CCDC188 (NM_001365892.2: c.481C > T[p.Gln161*] and c.1022 + 1G > A[p. K325Afs*110]) were identified in two unrelated infertile men. Morphological analysis displayed the typical ASS phenotype of patients' sperm. The depletion of CCDC188 protein was observed accompanied with SUN5 and PMFBP1 in patients' sperm. Notably, a poor ICSI outcome occurred after a sperm head and a detached tail from one patient were simultaneously microinjected, caused by fertilization failure and abnormal embryo development.Conclusions: Our results broadened the variant spectrum of CCDC188. We firstly reported a poor outcome of one proband after ICSI treatment, which suggested the role played by CCDC188 in male infertility might involve not only spermatogenesis but also fertilization and early embryonic development.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dynamics of YAP localization and transcript activity in human oocytes and granulosa cells across early-stage folliculogenesis: an exploratory investigation. 早期卵泡形成过程中人类卵母细胞和颗粒细胞中YAP定位和转录活性的动态：一项探索性研究。

IF 2.7 3区医学

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-26 DOI: 10.1007/s10815-025-03668-2

Jordan H Machlin, Kate Potocsky, Robin E Kruger, Jason Spence, Vasantha Padmanabhan, Ariella Shikanov

{"title":"Dynamics of YAP localization and transcript activity in human oocytes and granulosa cells across early-stage folliculogenesis: an exploratory investigation.","authors":"Jordan H Machlin, Kate Potocsky, Robin E Kruger, Jason Spence, Vasantha Padmanabhan, Ariella Shikanov","doi":"10.1007/s10815-025-03668-2","DOIUrl":"https://doi.org/10.1007/s10815-025-03668-2","url":null,"abstract":"Purpose: The transcription factor yes-associated protein (YAP) has been implicated in the regulation of murine follicle activation at the level of granulosa cells (GCs); however, less is known about its role in human folliculogenesis. This study aimed to explore the localization dynamics of YAP in the nucleus and cytoplasm of oocytes and granulosa cells in human ovarian follicles.Methods: YAP nuclear localization and mRNA expression of its gene target, connective tissue growth factor (CCN2), were investigated in oocytes and GCs across primordial, transitioning primordial, primary, and secondary follicles in human ovarian cortical tissue cultured up to 48 h. Slow-frozen and thawed human ovarian cortex squares (10 × 10 × 1 mm) were cut into smaller tissue strips (1 × 5 × 1 mm), and these strips were either fixed immediately (Timepoint 0) or cultured for 6, 24, or 48 h (n = 3 per timepoint). We analyzed oocytes and GCs from a total of 562 human follicles-112 primordial, 373 transitioning primordial, 65 primary, and 12 secondary.Results: Within each timepoint, YAP nuclear localization in GCs showed significantly greater abundance at the primary stages compared to the primordial stages but remained unchanged in oocytes. Furthermore, CCN2 mRNA expression in GCs increased significantly between the primordial and secondary stages of folliculogenesis, indicating YAP is transcriptionally active in granulosa cells of growing follicles.Conclusion: Our findings provide the important insight that YAP activity in granulosa cells could be a key regulator within human follicles transitioning from primordial to primary stages, a role that is likely conserved between humans and mice.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0