Reproductive Sciences最新文献

{"title":"The Role of PRMT5 in Embryonic Developmental Arrest: Insights from IVF-ET Discarded Human Embryos.","authors":"Ningyu Sun, Shifeng Li, Kai Li, Ping Yin, Xiufang Zhong, Yuanyuan Chen, Lu Lu, Yun Li, Yuanyuan Wu, Hua Yan, Wuwen Zhang","doi":"10.1007/s43032-025-01957-w","DOIUrl":"https://doi.org/10.1007/s43032-025-01957-w","url":null,"abstract":"<p><p>Embryonic developmental arrest is a critical factor affecting the success rate of in vitro fertilization and embryo transfer (IVF-ET), and protein arginine methyltransferase 5 (PRMT5) plays a crucial role in early embryonic development. However, the mechanisms by which PRMT5 regulates embryonic development remain largely unexplored. Following the acquisition of informed consent from the patients, human embryos discarded from the IVF process were collected as experimental material. Real-time quantitative polymerase chain reaction (qRT-PCR) and confocal analysis were employed to quantify the levels of PRMT5 mRNA and protein at different developmental stages of early embryos, as well as to assess changes in H4R3me2s methylation levels. Furthermore, PRMT5 knockdown was performed in developmentally arrested embryos to observe its impact on further embryonic development. The results demonstrated a significant increase in both PRMT5 mRNA and protein levels in arrested embryos compared to control embryos. Additionally, a significant increase in the methylation level of H4R3me2s was observed in arrested embryos. The knockdown of PRMT5 has the potential to rescue some of the developmentally arrested embryos. In conclusion, the results of this study indicate that overexpression of PRMT5 leads to developmental arrest in early embryos, which can be partially rescued by knocking down the PRMT5 protein.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086233","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":"Inner Cell Mass Grade and Earlier Blastulation Are Associated with Pregnancy Outcomes in Euploid Embryos.","authors":"Yuqi Bian, Sharon H Zhao, Maxwell Edwin Shramuk, Jacob M Schauer, Joan Riley, Allison Komorowski, Lia Bernardi","doi":"10.1007/s43032-025-01971-y","DOIUrl":"https://doi.org/10.1007/s43032-025-01971-y","url":null,"abstract":"<p><p>To assess the relationship between blastulation, ICM (inner cell mass) quality, TE (trophectoderm) quality, embryo sex, or embryo sex selection and live birth among euploid embryos. Single-center retrospective cohort analysis of patients who underwent single frozen embryo transfer (FET) following autologous IVF with preimplantation genetic testing for aneuploidy from 2020-2021. Blastocysts underwent trophectoderm biopsy with ICM and TE grading before vitrification. The associations between live birth (LB) and patient/embryo characteristics were assessed with mixed-effect multivariable logistic regression. In 768 euploid FET cycles with available live birth data, 404 cycles (52.6%) resulted in live birth. A significantly lower odds of LB was seen with vitrification on days 6 and 7 compared to day 5 (aOR 0.81, 95% CI 0.70-0.95) and in embryos with lower ICM quality compared to those with quality 1, the highest of three quality grades and indicative of tightly packed cells (aOR 0.75, 0.62-0.90). Embryo sex was known in > 90% of transferred embryos, with 355 (50.8%) female and 344 (49.2%) male. In 161 (21.0%) cycles where embryo sex was used to select embryo for transfer with 84 (52.2%) male and 77 (47.8%) female, embryo sex and embryo sex selection were not significantly associated with the odds of LB. Prioritizing embryos for transfer with better ICM quality and earlier blastulation may provide the highest chance of LB. Trophoblast quality at vitrification, embryo sex, and embryo sex selection were not associated with the odds of LB, but these factors may influence patient and physician decision-making.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034056","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 Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.","authors":"Digumarthi V S Sudhakar, Shagufta A Khan, Rupin Shah, Vijay Kulkarni, Vikas Dighe, Deepak Modi, Rahul K Gajbhiye","doi":"10.1007/s43032-025-01964-x","DOIUrl":"https://doi.org/10.1007/s43032-025-01964-x","url":null,"abstract":"<p><p>The genetic etiology is unknown for 30-40% of men with congenital bilateral absence of the vas deferens (CBAVD) and 70% of those with congenital unilateral absence of the vas deferens (CUAVD). The study aimed to investigate the genetic etiology of CBAVD/CUAVD, both with and without renal anomalies, in individuals who are negative for CFTR pathogenic variants. We included 19 cases of congenital absence of vas deferens (CAVD) that were negative for CFTR variants on Sanger sequencing. Whole-exome sequencing (WES) was performed in 16 men with CAVD. Targeted resequencing was carried out in a total of 19 CAVD cases [16 CAVD cases for which WES was performed and an additional 3 CBAVD cases without renal anomalies]. A novel, hemizygous ADGRG2 pathogenic variant (c.1706 C > T; p.T569I) was identified in two men with CBAVD without renal anomalies. Additionally, we detected pathogenic variants in AR, NCKPAL1, FSHR, and SLC26A4 genes in CBAVD without renal anomalies. Pathogenic variants were detected in FREM1, WNT2B, and TBX6 genes in CBAVD men with renal abnormalities. No variants were detected in CUAVD with renal anomalies. In addition to a novel pathogenic variant in the ADGRG2 gene, we report novel candidate genes AR, NCKPAL1, FSHR, and SLC26A4, for CBAVD. We identified variants in the FREM1, WNT2B, and TBX6 genes in CBAVD with renal anomalies. ADGRG2 testing could be useful for appropriate genetic counselling for the X-linked transmission of the molecular defect in CFTR-negative CBAVD. We recommend whole-exome sequencing for genetic screening of CBAVD for CFTR, ADGRG2, and other candidate genes prior to undergoing Intracytoplasmic sperm injection (ICSI).</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024179","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":"Circ_0070987 Promotes Pyroptosis of Ovarian Granulosa Cells in Polycystic Ovarian Syndrome Through the miR-139-5/CDH1 Axis.","authors":"Rui Huang, Miao Gao","doi":"10.1007/s43032-025-01966-9","DOIUrl":"https://doi.org/10.1007/s43032-025-01966-9","url":null,"abstract":"<p><p>PCOS refers to an endocrine and metabolic disorder that affects female individuals of reproductive age. Our study explores the potential mechanism of circ_0070987 on PCOS in regulating pyroptosis of ovarian GCs, providing new evidence for PCOS treatment. PCOS cell model was established. The expression of circ_0070987, line ELF2, miR-139-5p and CDH1 was detected. Cell viability was measured. The expression of IL-1β, IL-18, NLRP3, cleaved Caspase-1, GSDMD-N, and CDH1 was analyzed. Circ_0070987 was downregulated to verify its effect on pyroptosis. The binding of miR-139-5p to circ_0070987 and CDH1 was verified by dual-luciferase report assay. The role of circ_0070987 in pyroptosis of ovarian GCs in PCOS through the miR-139-5p/CDH1 axis was validated. After DHT treatment, cell viability of SVOG was decreased, and the expression of IL-1β, IL-18, circ_0070987, NLRP3, cleaved Caspase-1 and GSDMD-N was increased. DHT-induced pyroptosis of ovarian GCs was inhibited upon circ_0070987 downregulation. Mechanistically, circ_0070987 negatively regulated miR-139-5p, which targeted and inhibited CDH1. Inhibitory effect of circ_0070987 downregulation on pyroptosis of ovarian GCs in PCOS was reduced after miR-139-5p downregulation or CDH1 overexpression. In conclusion, circ_0070987 inhibits miR-139-5p expression and upregulates CDH1 expression, thus promoting pyroptosis of ovarian GCs in PCOS.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001334","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":"C/EBP-β/MeCP2/Wnt Axis Participates in the Testicular Injury in Rats Under Simulated Microgravity Conditions.","authors":"Pan Ge, Si-Yu Wang, Xiang Zhang, Yan-Qi Yang, Mo-Qi Lv, Ying Sun, Jian Zhang, Xiao-Ting Wang, Ming Liu, Dang-Xia Zhou","doi":"10.1007/s43032-025-01965-w","DOIUrl":"https://doi.org/10.1007/s43032-025-01965-w","url":null,"abstract":"<p><strong>Background and objective: </strong>As space exploration advances, the effects of the microgravity environment on testicular injury and spermatogenic function in astronauts have attracted widespread attention, but the underlying mechanisms remain unclear.</p><p><strong>Methods: </strong>In this study, testicular morphometry and Johnsen score were used to evaluate the degree of testicular injury. Then the upstream transcription factors of MeCP2 were verified using the dual-luciferase reporter assay. Finally, the expression of C/EBP-β, MeCP2, and Wnt4/β-Catenin protein was detected to clarify the regulatory pathway.</p><p><strong>Results: </strong>Under microgravity conditions, MeCP2 expression was significantly reduced in rat testes and was positively correlated with testicular morphometric indices. Subsequently, the dual-luciferase reporter assay revealed that C/EBP-β directly bound to the promoter sequence of MeCP2, initiating its transcriptional activity. Meanwhile, the expression of C/EBP-β, Wnt4, and β-Catenin was reduced in the testes under microgravity conditions.</p><p><strong>Conclusions: </strong>In conclusion, our study proposed that C/EBP-β regulated MeCP2, consequently, inhibited the Wnt4/β-Catenin pathway activity, thereby participating in microgravity-induced testicular injury.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006569","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":"Regulatory Interplay of p53, AMPK, and mTOR in Decidualization: Implications for Reproductive Competence and Cancer Biology.","authors":"Hiroshi Kobayashi, Hiroshi Shigetomi, Miki Nishio, Mai Umetani, Shogo Imanaka, Hiratsugu Hashimoto","doi":"10.1007/s43032-025-01970-z","DOIUrl":"https://doi.org/10.1007/s43032-025-01970-z","url":null,"abstract":"","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001395","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":"Construction and Validation of a Novel Prognostic Model Based on Cervical Cancer-Related Genes.","authors":"Daoyang Zou, Xiuhong Wu, Xi Xin, Tianwen Xu","doi":"10.1007/s43032-025-01973-w","DOIUrl":"https://doi.org/10.1007/s43032-025-01973-w","url":null,"abstract":"<p><strong>Background: </strong>Cervical cancer (CC) is the fourth most frequently diagnosed cancer and the fourth leading cause of cancer-related deaths in women worldwide, however, the treatment options for advanced CC are limited. Therefore, there is an urgent need in the clinic for reliable prognostic models to guide clinical decision-making.</p><p><strong>Methods: </strong>We conducted differential gene expression analysis on cervical cancer samples and normal samples to obtain differentially expressed genes (DEGs). We used WGCNA analysis to identify the most relevant module associated with cervical cancer and intersected with DEGs to obtain cervical cancer-related genes. We then constructed a protein-protein interaction (PPI) network using these genes and identified core genes using the Hubba plugin in Cytoscape software. Subsequently, we built a prognostic model using the identified cervical cancer-related genes in combination with the TCGA database. GSE44001 was used to verify the accuracy of the model. We performed a single-gene survival analysis on the genes involved in model construction.</p><p><strong>Results: </strong>We obtained 52 cervical cancer-related genes and 22 core genes (DNA2, CEP55, GINS1, RFC4, KIF14, GINS2, MYBL2, KIF4A, RAD54L, KNTC1, SPAG5, MELK, CENPE, MCM2, NCAPH, MCM5, ASPM, HELLS, DTL, FOXM1, TOP2A, CDC45). We successfully constructed a prognostic model using cervical cancer-related genes. The comprehensive analysis showed that the constructed prognostic model could effectively predict the prognosis of cervical cancer patients, with AUC values of 0.858, 0.802, and 0.797 for 1, 3, and 5 years in the training group, respectively. The results were consistent in the validation using the GSE44001 dataset. Single-gene survival analysis showed that APOD was an independent prognostic biomarker for cervical cancer.</p><p><strong>Conclusion: </strong>APOD is a prognostic biomarker for cervical cancer, and the prognostic model constructed by identified cervical cancer-related genes can successfully distinguish the prognosis of patients with cervical cancer.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001296","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":"Genome Editing for Fertility: Unlocking the Promise of CRISPR/Cas9 in Addressing Male Infertility - A Narrative Review.","authors":"Naina Kumar","doi":"10.1007/s43032-025-01972-x","DOIUrl":"https://doi.org/10.1007/s43032-025-01972-x","url":null,"abstract":"<p><p>Male infertility remains a significant global reproductive health challenge, frequently attributed to genetic mutations impairing spermatogenesis and sperm function. This narrative review aims to explore the genetic and molecular underpinnings of male infertility and evaluate the emerging role of Clustered Regularly Interspaced Short Palindromic Repeats-CRISPR-associated protein 9 (CRISPR/Cas9) genome editing as a diagnostic and therapeutic tool, while addressing its associated ethical, technical, and safety considerations. A Comprehensive literature search was conducted across PubMed, Scopus, Web of Science databases, covering studies published between September 1992 and April 2025. Keywords included \"male infertility,\" \"genetic causes of male infertility,\" \"genome editing,\" \"CRISPR/Cas9 and male infertility,\" \"genome editing in male reproduction,\" \"ethical concerns of CRISPR,\" and \"future fertility treatments.\" Eligible studies focused on genetic correction strategies, spermatogonial stem cell applications, off-target effects, mosaicism, and ethical implications of gene editing. The review synthesizes current knowledge on genetic and epigenetic etiologies of male infertility. It discusses the therapeutic potential of CRISPR/Cas9 in correcting these defects and restoring fertility in preclinical models. Critical challenges, including off-target gene editing, germline mosaicism, long-term safety, and ethical debates surrounding human germline modification, were examined. The review also considers future advancements in genome editing and artificial sperm development. CRISPR/Cas9 represents a transformative platform in reproductive medicine with promising implications for treatment of genetically linked male infertility. However, its clinical translation demands rigorous validation, transparent ethical deliberation, and robust regulatory frameworks. Future innovations combining genome editing, regenerative biology, and precision diagnostics may revolutionize fertility care, but must proceed with caution to ensure safety, efficacy, and ethical integrity.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966577","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":"Transhymenal Vaginoscopic Resection of a Large Polypoid Cervical Endometriosis in an Adolescent Girl: Case Report and Literature Review.","authors":"Diaa Abdelhalim","doi":"10.1007/s43032-025-01934-3","DOIUrl":"10.1007/s43032-025-01934-3","url":null,"abstract":"<p><p>Cervical endometriosis is an uncommon site and a distinctive entity of this enigmatic disease. It has a different clinical presentation, more difficult diagnosis and dissimilar management approach. Endometriosis of the cervix can be classified into superficial, deep and polypoid.Superficial cervical endometriosis may appear on cervical smears as atypical glandular cells and may present with intermenstrual spotting or postcoital bleeding. It is usually treated by colposcopic loop excision or cryocautery. Patients with deep cervical endometriosis complaint mainly of chronic pelvic pain and treated like traditional deep infiltrating endometriosis of the pelvis. The polypoid form frequently presents with abnormal vaginal bleeding and treated by polypectomy in most of the cases.The case presented in this report was a presexual 13-year-old adolescent girl with a large polypoid cervical endometriosis (9 cm in maximum dimension) who presented with abnormal vaginal bleeding. Complete resection of the polyp was performed in two sessions of transhymenal vagino-resectoscopy. Diagnosis was only confirmed by histopathological examination. This was a rare example of the possible role of hysteroscopy in the management of some forms of endometriosis.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"2964-2969"},"PeriodicalIF":2.5,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660006","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 Performance and Obstetric Outcomes after Hysteroscopic Metroplasty for T Shaped Uterus.","authors":"Elif Aylin Taşkın, Kübra Dilbaz, Didem Demir, Berna Dilbaz, Yaprak Engin Üstün","doi":"10.1007/s43032-025-01951-2","DOIUrl":"10.1007/s43032-025-01951-2","url":null,"abstract":"<p><p>The aim of this retrospective cohort study is to investigate the impact of hysteroscopic metroplasty for T-shaped uterus on reproductive and obstetric outcomes in patients admitted to our infertility clinic for unexplained infertility or history of miscarriage and were operated for T-shaped uterus.Hospital records of consecutive patients who underwent hysteroscopic metroplasty for T shaped uterus between February 2021 and December 2022 were reviewed and 37 eligible patients were enrolled. These were nulliparous women between 18 and 40 years of age with T-shaped uteri and either history of abortion(s) or otherwise unexplained infertility period of at least 1 year. Patients who were pregnant at the first interview were called once more.During our follow-up period, 25 pregnancies, 1 of which was extrauterine, occurred in 23 patients (Clinical Pregnancy Rate: 64.9%). Six of 24 intrauterine pregnancies ended as abortion (25.0%), and 18 as live birth (Live Birth Rate (LBR) per pregnancy: 75.0%). LBRs per women in subgroups with and without previous history of miscarriage were 70.0% and 73.3%, respectively (p > 0.05).Hysteroscopic metroplasty for T shaped uterus may improve clinical pregnancy, live birth and abortion rates in infertile population with and without previous pregnancy loss. Prospective randomized controlled studies (with a nonsurgical follow up group) with larger sample sizes and longer follow up periods also considering the severity of the dysmorphism will be beneficial to clarify the issue.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"2997-3004"},"PeriodicalIF":2.5,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144837496","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}