Journal of Assisted Reproduction and Genetics最新文献

{"title":"Intracytoplasmic sperm injection utilization relative to reported male factor infertility prevalence and its association with preimplantation genetic testing use: a national clinic-level study.","authors":"Jonathan Desposorio, Nicholas M Stansbury","doi":"10.1007/s10815-026-04034-6","DOIUrl":"https://doi.org/10.1007/s10815-026-04034-6","url":null,"abstract":"<p><strong>Purpose: </strong>Intracytoplasmic sperm injection (ICSI) is frequently used in assisted reproductive technology practice beyond cycles with reported male factor infertility (MFI). We conducted a hypothesis-generating clinic-level analysis to characterize the relationship between reported ICSI utilization and MFI prevalence and to evaluate the association of their descriptive differential with preimplantation genetic testing (PGT) utilization. Live birth rate (LBR) per transfer was examined as a secondary exploratory outcome.</p><p><strong>Methods: </strong>We conducted a retrospective, hypothesis-generating ecological analysis of publicly available 2021-2022 Centers for Disease Control and Prevention clinic-level data. The ICSI-MFI differential was defined as the reported ICSI utilization percentage minus the reported MFI percentage and was interpreted as a descriptive index because the component variables used nonidentical denominators and populations. Spearman correlation evaluated associations involving PGT utilization, and LBR per transfer was compared across data-derived ICSI utilization tiers as a secondary exploratory analysis. Clustering-aware and clinic-volume-weighted sensitivity analyses were performed.</p><p><strong>Results: </strong>Median reported ICSI utilization was 87.8% (IQR, 70.9%-94.3%), compared with a median reported MFI percentage of 27.7% (IQR, 19.0%-36.0%). The ICSI percentage was numerically higher than the MFI percentage in 97.9% of clinic-years. The ICSI-MFI differential demonstrated a modest positive correlation with PGT utilization (Spearman rho = 0.312, p < 0.001), and raw ICSI utilization was also positively correlated with PGT utilization (rho = 0.231, p < 0.001). In the secondary LBR analysis, an unweighted difference across ICSI tiers (p = 0.003) did not persist after accounting for clinic-level clustering, either through a random intercept model (p = 0.058) or clinic-volume weighting with clinic-clustered standard errors (p = 0.070).</p><p><strong>Conclusion: </strong>At the clinic level, the reported ICSI utilization percentage was frequently and substantially higher than the reported MFI percentage, although these measures had nonidentical denominators and cannot identify nonindicated ICSI use in individual cycles. PGT utilization demonstrated a modest positive association with the descriptive ICSI-MFI differential, but the ecological data do not establish causation or the underlying laboratory mechanism. These findings should be interpreted as a hypothesis-generating assessment of contemporary practice patterns.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149074848","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}

{"title":"Reproductive endocrinology and infertility exposure and medical student interest in obstetrics and gynecology specialty: a narrative review.","authors":"Shannon Wasley, Navid Esfandiari","doi":"10.1007/s10815-026-04042-6","DOIUrl":"https://doi.org/10.1007/s10815-026-04042-6","url":null,"abstract":"<p><p>Clinical rotations and clerkship experiences during medical school, including Obstetrics and Gynecology (OBGYN), play a significant role in shaping specialty choice. Reproductive medicine is becoming an increasingly important component of women's health with advances in assisted reproductive technologies, fertility preservation, and infertility care. Despite these developments, exposure to Reproductive Endocrinology and Infertility (REI) during medical education remains inconsistent, potentially limiting awareness of this evolving subspecialty. This review synthesizes the available literature on REI educational experiences, mentorship initiatives, and clinical exposure during medical school and their association with student interest in OBGYN and reproductive medicine careers. Available evidence suggests that structured REI curricula, clinical experiences, and mentorship are associated with greater student knowledge, awareness of career pathways, and interest in reproductive medicine. Although the evidence remains limited, expanding REI exposure may broaden awareness of the diversity of the field of OBGYN and has the potential to strengthen recruitment into reproductive medicine.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149074932","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}

{"title":"Fresh versus frozen-thawed testicular sperm for intracytoplasmic sperm injection in men with non-obstructive azoospermia: a systematic review and meta-analysis.","authors":"Samet Senel, Antonios Koudonas, Abdullah Said Sezgin, Abdullah Al-Mitwalli, Philippa Sangster, Mert Emre Erden, İlker Teke, Burcin Karamustafaoglu Balci, Murat Dursun","doi":"10.1007/s10815-026-04040-8","DOIUrl":"https://doi.org/10.1007/s10815-026-04040-8","url":null,"abstract":"<p><strong>Introduction: </strong>The optimal use of fresh versus frozen-thawed testicular sperm for intracytoplasmic sperm injection (ICSI) in men with non-obstructive azoospermia (NOA) remains controversial. Although cryopreservation facilitates asynchronous ICSI cycles, concerns persist regarding its potential adverse effects on sperm quality and reproductive outcomes. This systematic review and meta-analysis aimed to compare ICSI outcomes using fresh and frozen-thawed testicular sperm in men with NOA.</p><p><strong>Methods: </strong>A systematic search of PubMed Central, Web of Science, and Scopus was performed for studies published between January 1995 and May 2026. Comparative studies evaluating ICSI outcomes using fresh versus frozen-thawed surgically retrieved testicular sperm in NOA patients were included. Outcomes assessed were fertilization rate (FR), cleavage rate (CR), good embryo rate, implantation rate (IR), clinical pregnancy rate (CPR), and live birth rate (LBR). Pooled risk ratios (RRs) with 95% confidence intervals (CIs) were calculated using fixed- or random-effects models according to heterogeneity.</p><p><strong>Results: </strong>Thirty-six studies comprising 5086 ICSI cycles were included. Fresh testicular sperm was associated with significantly higher FR (RR = 1.08, 95% CI 1.02-1.14; p = 0.0069) and LBR (RR = 1.13, 95% CI 1.03-1.23; p = 0.0067) compared with frozen-thawed sperm. No significant differences were observed in CR (RR = 1.01, 95% CI 0.98-1.03), good embryo rate (RR = 1.07, 95% CI 0.99-1.15), IR (RR = 1.00, 95% CI 0.81-1.23), or CPR (RR = 1.10, 95% CI 1.00-1.21; p = 0.054). No significant publication bias was detected.</p><p><strong>Conclusion: </strong>In men with NOA undergoing ICSI, the use of fresh testicular sperm is associated with improved fertilization and live birth rates compared with frozen-thawed sperm. Nevertheless, embryo development, implantation, and clinical pregnancy outcomes appear comparable between the two approaches. These findings support the preferential use of fresh sperm when feasible, while confirming that cryopreserved sperm remains an effective alternative when fresh sperm utilization is not possible.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149074818","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}

{"title":"Predictive value of fresh and post-selection total motile sperm count on embryo quality and success rate of intracytoplasmic sperm injection in cycles with donated oocytes: a retrospective multi-center study.","authors":"Andrea Crafa, Rossella Cannarella, Ana Navarro-Gomezlechon, Rosa María Pacheco-Rendón, Rosita Condorelli, Sandro La Vignera, Aldo E Calogero, Nicolás Garrido","doi":"10.1007/s10815-026-04026-6","DOIUrl":"https://doi.org/10.1007/s10815-026-04026-6","url":null,"abstract":"<p><strong>Purpose: </strong>The study aims to evaluate whether fresh and post-selection total motile sperm count (TMSC) can be associated with embryo quality and cumulative live birth rate (CLBR) in intracytoplasmic sperm injection (ICSI) cycles. By focusing specifically on cycles using donated oocytes, the researchers aimed to minimize the confounding influence of female fertility factors.</p><p><strong>Methods: </strong>This multicenter retrospective observational cohort study analyzed data from 862 couples undergoing ICSI with donated oocytes between January 2008 and December 2023 across 15 clinics in Spain. Patients were categorized into five distinct groups based on their fresh and post-selection TMSC values (ranging from less than 1 million to over 20 million). The primary outcome was CLBR, while secondary outcomes included fertilization rates, embryo quality, and pregnancy rates.</p><p><strong>Results: </strong>While initial, unadjusted analyses showed some differences in fertilization rates and CLBR across the fresh TMSC groups, these associations lost statistical significance after adjusting for key confounding variables. Once adjustments were made for donor and male age, body mass index (BMI), sperm selection techniques, and WHO manual editions, neither fresh nor post-selection TMSC demonstrated any consistent, clinically meaningful relationship with fertilization, embryo quality, pregnancy outcomes, or CLBR.</p><p><strong>Conclusions: </strong>In ICSI cycles using donor eggs, neither fresh nor post-selection TMSC was independently associated with reproductive outcomes once confounding factors are accounted for. Consequently, clinicians should recognize the limited prognostic value of conventional semen parameters such as TMSC when counseling couples and assessing reproductive outcomes in donor-oocyte ICSI cycles.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149061440","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}

{"title":"CFAP58-deficient human sperm show radial spoke-doublet microtubule interface abnormalities and successful fertilization by ICSI.","authors":"Gang Ni, Xun Xia, Yudie Guo, Zhijun Dai, Qingsong Xie, Mengting Xie, Chuan Xu, Yunxia Cao, Rong Hua, Xiansheng Zhang, Xiaoqing Ni","doi":"10.1007/s10815-026-04036-4","DOIUrl":"https://doi.org/10.1007/s10815-026-04036-4","url":null,"abstract":"<p><strong>Background: </strong>Multiple morphological abnormalities of the flagella (MMAF) are a recessive cause of male infertility characterized by severe flagellar defects. CFAP58 is a known MMAF-associated gene, but its underlying molecular mechanism remains unclear.</p><p><strong>Objectives: </strong>To define the molecular function of CFAP58 and how its loss leads to MMAF.</p><p><strong>Materials and methods: </strong>Whole-exome sequencing was performed to identify pathogenic variants in three unrelated infertile men. Sperm motility, protein expression, localization, and ultrastructure were evaluated using CASA, western blotting, immunofluorescence, and transmission electron microscopy. Intracytoplasmic sperm injection (ICSI) was performed to assess fertilization capacity.</p><p><strong>Results: </strong>Three novel CFAP58 loss-of-function variants were identified. CFAP58-deficient sperm displayed classic MMAF phenotypes with severely impaired motility. Ultrastructural analysis showed disruption of the \"9 + 2\" axoneme, loss of the central pair, and disorganization of accessory structures. Mechanistically, CFAP58 may contribute to the structural connection between radial spokes (RS) and doublet microtubules (DMTs); its absence leads to RS damage and axonemal instability. Notably, despite profound structural defects, fertilization and pregnancy were successfully achieved through ICSI using CFAP58-deficient sperm. DISCUSSION AND CONCLUSION: CFAP58 deficiency is associated with RS-DMT interface abnormalities and defective flagellar assembly, potentially contributing to MMAF. However, the retained fertilization competence of these sperm through ICSI underscores that assisted reproductive technology constitutes an effective therapeutic strategy for affected patients.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149061379","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}

{"title":"Regulating the future of procreation: a proposed comprehensive framework for in vitro gametogenesis (IVG) in Israel.","authors":"Orit Golan, Alexis Heng Boon Chin","doi":"10.1007/s10815-026-03987-y","DOIUrl":"https://doi.org/10.1007/s10815-026-03987-y","url":null,"abstract":"<p><p>In vitro gametogenesis (IVG) is a novel reproductive technology that promises to derive functional human gametes from both embryonic and reprogrammed somatic cells. Currently, this technology is still in the experimental stages, but is approaching clinical viability, which necessitates the development of robust regulatory frameworks for its application in human reproduction. As assisted reproductive technologies (ART) are widely utilized in Israel and heavily subsidized by the state, it would be timely to propose a comprehensive framework for incorporating IVG within the nation's fertility treatment landscape. This requires careful integration of Israeli civil law with the administrative regulations established by the nation's Ministry of Health, while carefully navigating the profound cultural and religious sensitivities of the country's major populations, specifically the Jewish and Sunni Muslim communities. Here, we evaluate the application of IVG across a spectrum of reproductive scenarios: overcoming primary and age-related female infertility, facilitating transgender and intersex parenthood, enabling posthumous reproduction, the mass production of donor gametes, same-sex, solo-, and multiplex-parenthood, as well as the prevention of genetic diseases and the controversial prospect of genetic enhancement. Rooted in Israel's strong pro-natalist ethos, the proposed framework suggests that therapeutic applications of IVG aligning with traditional family structures and the imperative to heal will be integrated into the existing public health infrastructure. A nuanced, centralized oversight mechanism that balances the right to parenthood with ethical boundaries is thus proposed, ensuring that the clinical translation of IVG respects both the diverse moral and religious landscapes of Israeli society and the fundamental rights of the child.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149025021","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}

{"title":"Fragmentomic features of cell-free DNA in human spent blastocyst medium and their potential for non-invasive embryo ploidy assessment.","authors":"Shaochong Lin, Shuang Tian, Kun Sun, Xiaomei Zhou, Manling Luo, William S B Yeung, Dandan Cao, Yuanqing Yao","doi":"10.1007/s10815-026-04033-7","DOIUrl":"https://doi.org/10.1007/s10815-026-04033-7","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize the fragmentomic features of cell-free DNA (cfDNA) in spent blastocyst medium (SBM) and their association with embryonic chromosomal status.</p><p><strong>Methods: </strong>One hundred fifty SBM samples were obtained from 43 preimplantation genetic testing for aneuploidy (PGT-A) cycles in 39 patients. Fragmentomic features of SBM cfDNA, including fragment size, fragment end, end-motif, and nucleosome occupancy, were compared between euploid and aneuploid embryos.</p><p><strong>Results: </strong>SBM cfDNA exhibited characteristic nucleosomal and 10-bp periodicity in its fragment-size profile. Fragment-end analysis revealed a pronounced G-end preference, and end-motif deconvolution suggested an oxidative stress-associated cleavage pattern. Coverage analysis around transcription start sites (TSSs) showed that SBM cfDNA promoter coverage was associated with gene expression, with higher coverage at TSS regions of lowly expressed genes than at those of highly expressed genes. TSS coverage profiles also differed between euploid and aneuploid embryos, with differentially covered genes enriched in biological processes related to embryonic development and cytokinesis. An exploratory TSS coverage-based prediction model showed good discrimination, reasonable calibration and a higher estimated net benefit in this cohort.</p><p><strong>Conclusions: </strong>This study advances our understanding of the origin and fragmentation patterns of SBM cfDNA. The distinct promoter coverage profiles in SBM cfDNA from embryos with different chromosomal statuses support the development of a fragmentomics-based approach for non-invasive embryo assessment. Further studies in larger independent cohorts are needed to confirm the robustness and generalizability of these findings.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149025032","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}

{"title":"Identifying potential factors influencing family-building perspectives in adults with SCD.","authors":"Tanvi Karkare, Monica Stanwick, Anyssa Young, Robert Cronin, Nives Quaye, Ashley Ebersole, Susan Creary, Leena Nahata","doi":"10.1007/s10815-026-04027-5","DOIUrl":"https://doi.org/10.1007/s10815-026-04027-5","url":null,"abstract":"<p><strong>Purpose: </strong>The study aimed to identify factors influencing family-building perspectives among adults with sickle cell disease (SCD) overall and by sex, and to examine attitudes toward discussing SCD genetic transmission with partners and doctors by sex and relationship status.</p><p><strong>Methods: </strong>We conducted a secondary analysis of survey data from 91 adults with SCD (aged 21-39) receiving care at The Ohio State University Wexner Medical Center. Participants completed a survey assessing their sociodemographic information, factors influencing family-building perspectives, and attitudes regarding SCD genetic transmission. Inductive content analysis identified themes in open-ended survey responses. Descriptive statistics summarized quantitative data, and chi-square tests analyzed differences by sex and relationship status.</p><p><strong>Results: </strong>Five themes emerged: 1) concerns about personal health and pregnancy, reported primarily by females; 2) lack of resources (i.e., finances and familial support); 3) concerns about genetic transmission; 4) desire for a large family; and 5) indifference or low desire for children. Most participants reported being comfortable discussing SCD with partners (86%) and doctors (89%), with no differences by sex or relationship status. Among dating/partnered individuals, 65% reported their partner did not know their sickle cell trait status. Forty-five percent of participants received SCD genetic counseling, and 12% of those reported it influenced their family-building perspectives.</p><p><strong>Conclusions: </strong>Family-building perspectives in adults with SCD may be influenced by multiple factors such as personal health, lack of resources, and concerns for genetic transmission. Further research to understand how to optimize counseling practices is crucial to allow individuals with SCD to achieve their family-building goals.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149024994","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}

{"title":"Novel and recurrent TUBB8 variants cause irreversible meiotic spindle defects and refractory ART failure in Chinese women with oocyte maturation arrest.","authors":"Xin-Jie Zhuang, Yue Li, Ying Lian, Xin Qiu, Na-Na Liu, Ying Wang, Rong Li, Ping Liu","doi":"10.1007/s10815-026-04025-7","DOIUrl":"https://doi.org/10.1007/s10815-026-04025-7","url":null,"abstract":"<p><strong>Purpose: </strong>Oocyte maturation arrest (OMA) is a major monogenic cause of unexplained female infertility and recurrent assisted reproductive technology (ART) failure. TUBB8, which encodes an oocyte-specific β-tubulin isoform essential for acentrosomal spindle assembly, represents the most common genetic etiology of metaphase I (MI) arrest. This study aimed to identify pathogenic TUBB8 variants and characterize their clinical phenotypes and molecular mechanisms in Chinese women with unexplained recurrent OMA.</p><p><strong>Methods: </strong>Six unrelated Chinese women with primary infertility and persistent OMA were enrolled. Whole-exome sequencing and Sanger sequencing were performed to identify and validate TUBB8 variants. Inheritance patterns, oocyte morphology, spindle integrity, and clinical ART outcomes were systematically evaluated. Three-dimensional structural modeling was used to predict the functional impact of the identified variants.</p><p><strong>Results: </strong>Five heterozygous missense variants were identified: c.292G > A (p.Gly98Arg), c.731G > A (p.Gly244Asp), c.735G > C (p.Gln245His), c.845G > C (p.Arg282Pro), and c.880 T > C (p.Phe294Leu). All variants mapped to evolutionarily conserved, functionally essential domains and were predicted to be deleterious. All patients exhibited normal ovarian reserve and endocrine profiles but uniform, irreversible MI arrest: 85.4% of retrieved oocytes arrested at MI, with only 5.7% reaching metaphase II. Polarization microscopy revealed absent or severely disorganized spindles. Despite ICSI combined with artificial oocyte activation, the fertilization rate was only 6.3%, with no blastocyst formation or clinical pregnancy. Structural modeling suggested that these variants may interfere with GTP hydrolysis, lateral protofilament interactions, and C-terminal hydrophobic networks, thereby exerting dominant-negative effects on spindle assembly.</p><p><strong>Conclusions: </strong>This study expands the pathogenic mutational spectrum of TUBB8 and confirms that novel and recurrent TUBB8 missense variants cause irreversible MI arrest and complete ART refractoriness in Chinese women. Our findings support routine TUBB8 genetic screening as a valuable diagnostic tool for unexplained recurrent OMA, facilitating early diagnosis, avoidance of futile ART cycles, and personalized reproductive counseling.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149001863","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}

{"title":"Integrated analysis of autophagy-related lncRNAs and oxidative DNA damage reveals molecular signatures of severe sperm abnormalities.","authors":"Ebru Etem Önalan, Sebnem Nur Keke Urhan, Ahmet Karakeci, Berna Ozdem, Ilay Buran Kavuran","doi":"10.1007/s10815-026-04005-x","DOIUrl":"https://doi.org/10.1007/s10815-026-04005-x","url":null,"abstract":"<p><strong>Purpose: </strong>Autophagy is a critical intracellular degradation pathway involved in cellular homeostasis and spermatogenesis. Long noncoding RNAs (lncRNAs) regulate autophagy-related signaling; however, their role in male infertility remains unclear. This study aimed to evaluate the association between autophagy-related lncRNAs, oxidative DNA damage, and sperm abnormalities in infertile men.</p><p><strong>Methods: </strong>A total of 120 men were included: 30 fertile controls, 30 with asthenospermia (AS), 30 with teratospermia (TS), and 30 with oligoasthenoteratozoospermia (OATS). Expression levels of autophagy-related lncRNAs and protein-coding genes were quantified using real-time PCR. LC3 protein expression was assessed by Western blot, and sperm 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels were measured by ELISA. Statistical analyses included ANOVA, correlation analysis, and receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>Autophagy-related lncRNAs (H19, HOTAIR, MALAT1, NBR2, HULC, and ROR) and key autophagy markers (ATG7 and LC3) were significantly upregulated predominantly in the OATS group compared with controls and other groups (p < 0.05). LC3 protein levels were also significantly increased in OATS. Sperm 8-OHdG levels were significantly elevated in both AS and OATS groups. Correlation analyses revealed significant associations between hormone levels (FSH, LH, and prolactin) and lncRNA expression, particularly in the OATS group. ROC analysis demonstrated moderate discrimination for OATS versus other groups (AUC = 0.754) and excellent discrimination for OATS versus controls (AUC = 0.902).</p><p><strong>Conclusion: </strong>Dysregulation of autophagy-related lncRNAs and increased oxidative DNA damage are strongly associated with severe sperm abnormalities. The observed molecular alterations may represent either contributors to sperm dysfunction or adaptive responses to oxidative stress. Combined evaluation of these markers showed promising discriminatory performance, although validation in larger independent cohorts is required before clinical application.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982832","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}