Reproductive Biology and Endocrinology最新文献

{"title":"Mice lacking NF-ĸB1 undergo premature ovarian aging.","authors":"Carolina Lliberos, Seng H Liew, Yasmin Lewis, Nadeen Zerafa, Darcy Ellis, Ashley Mansell, Steve Gerondakis, Karla Hutt","doi":"10.1186/s12958-026-01574-5","DOIUrl":"10.1186/s12958-026-01574-5","url":null,"abstract":"<p><p>Female fertility declines dramatically with age, primarily due to the loss of oocyte number and quality. This physiological event leads to ovarian dysfunction and infertility, irregular cycles and ultimately menopause. Despite its significance, the factors that underlie the natural process of age-related follicle loss, or those that promote premature ovarian aging, remain unknown. Here we show that low levels of chronic inflammation in mice lacking the nuclear factor kappa B transcription factor NF-ĸB1 (Nfkb1^-/-) coincide with accelerated depletion of the ovarian reserve, characteristic of premature ovarian aging. While Nfkb1^-/- mice enter adult life with normal numbers of primordial follicles, as females age, the primordial follicle pool is depleted more rapidly than in age-matched wild-type controls. Similarly, mice hemizygous for Nfkb1 (Nfkb1^±) also exhibit an early loss of the ovarian reserve and a decrease in the number of corpora lutea, consistent with reduced ovulation. Loss of NF-ĸB1 was accompanied by elevated serum cytokine and intra-ovarian inflammatory levels. Overt ovarian fibrosis was not observed in aging Nfkb1^-/- mice, indicating that fibrosis may not the mechanism underlying premature follicle depletion. Collectively, these data suggest that loss of NF-ĸB1 and chronic low-grade inflammation may accelerate the age-associated depletion of follicles, leading to early loss of fertility and premature menopause.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13556056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148332339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of celiac disease with menstrual and hormonal disturbances: a systematic review and meta-analysis.","authors":"Michail Delis, Elpida Emmanouilidou-Fotoulaki, Eirini Iordanidou, Achilleas G Tsimperidis, Olga Giouleme, Dimitrios G Goulis, Theodoros Theodoridis","doi":"10.1186/s12958-026-01572-7","DOIUrl":"10.1186/s12958-026-01572-7","url":null,"abstract":"<p><strong>Background: </strong>Disturbances in the female reproductive system are known extraintestinal manifestations of celiac disease (CD). However, the reliability of the existing literature is limited by small study populations and heterogeneous study designs. This study is the first systematic review and meta-analysis to synthesize all available evidence and provide a comprehensive evaluation of the association between CD and female menstrual and hormonal parameters.</p><p><strong>Methods: </strong>A systematic literature search was conducted in PubMed, Scopus, and Cochrane Central databases using keywords related to CD, menstrual characteristics, and hormonal markers. Studies published until August 2025 were included.</p><p><strong>Results: </strong>Our analysis demonstrated a significantly higher mean age at menarche in girls with CD compared with controls [pooled mean difference (MD): 0.64 years, 95% confidence interval (CI): 0.32 to 0.95, p = 0.0007), as well as an increased risk of abnormal uterine bleeding [pooled odds ratio (OR): 2.11, 95% CI: 1.23 to 3.63, p < 0.05] and amenorrhea (pooled OR: 4.03, 95% CI: 1.11 to 14.65, p = 0.0394). Menopausal age was not found to be earlier in women with CD (pooled MD: -1.31 years, 95% CI: -3.02 to 0.40, p = 0.1053). Adherence to a gluten-free diet was not associated with age at menarche when adherent and non-adherent patients were compared (pooled MD: 0.56 years, 95% CI: -0.72 to 1.83, p = 0.260). Furthermore, none of the evaluated biochemical hormonal markers (FSH, LH, estradiol, prolactin, and AMH) differed significantly between women with CD and controls.</p><p><strong>Conclusion: </strong>This systematic review and meta-analysis reinforces the existing evidence that CD may adversely affect several aspects of menstrual health in women without significantly impacting biochemical hormonal markers.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148302713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis-dependent metabolic reprogramming of follicular fluid.","authors":"Csilla Kurdi, Dávid Hesszenberger, Dávid Csabai, Anikó Lajtai, Ágnes Lakatos, Krisztina Gödöny, Péter Mauchart, Ákos Várnagy, Gábor L Kovács, Tamás Kőszegi","doi":"10.1186/s12958-026-01579-0","DOIUrl":"10.1186/s12958-026-01579-0","url":null,"abstract":"<p><strong>Background: </strong>The follicular fluid (FF) microenvironment plays a critical role in oocyte maturation and embryo development, reflecting local ovarian activity and systemic metabolic status. While metabolic alterations in FF have been described in different diseases, comparative analyses across different infertility-related disorders remain limited.</p><p><strong>Objective: </strong>This study aimed to characterize and compare amino acid profiles in FF from patients undergoing in vitro fertilization (IVF) with insulin resistance (IR), endometriosis (EM), thyroid dysfunction (TD) and to identify disease-specific metabolic signatures.</p><p><strong>Methods: </strong>We analyzed 171 FF samples using targeted ultra-high-performance liquid chromatography. The twenty proteogenic amino acids were quantified and analyzed using univariate and multivariate statistical analyses, including Kruskal-Wallis testing with post-hoc correction, generalized linear modeling adjusted for BMI, principal component analysis (PCA) and pathway enrichment analysis.</p><p><strong>Results: </strong>PCA revealed that the global amino acid composition of FF was largely conserved across all groups. However, disease status had a statistically significant but moderate effect on the overall amino acid profile (PERMANOVA, R²=0.081, p = 0.001). After adjusting for BMI, IR was associated with decreased glycine and arginine levels and TD was associated with lower histidine, tryptophan and lysine concentrations. In contrast, EM was characterized by a selective increase in the histidine content. Pathway analysis revealed alterations in branched-chain amino acid (BCAA) metabolism in IR group and broader disruptions in central amino acid metabolism in TD group. Multivariate and ROC analyses indicated limited discriminative performance of individual amino acids (AUC ≤ 0.71), suggesting that metabolic alterations are subtle and distributed across multiple pathways.</p><p><strong>Conclusions: </strong>FF amino acid composition is tightly regulated but distinct disease-specific metabolic alterations can be detected in IR, EM and TD. These changes are independent of BMI and reflect coordinated alterations in the metabolism of different amino acids rather than strong individual biomarkers. These results show the sensitivity of the follicular environment to overall metabolic health and support the idea of using multivariable metabolic patterns to better understand reproductive dysfunction.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148284313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retraction Note: Evaluation of safety margins of chenopodium album seed decoction: 14-day subacute toxicity and microbicidal activity studies.","authors":"Shrabanti Kumar, Shampa Biswas, Sukdeb Banerjee, Nirup B Mondal","doi":"10.1186/s12958-026-01577-2","DOIUrl":"10.1186/s12958-026-01577-2","url":null,"abstract":"","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":"24 1","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13270654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148259375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does obesity affect serum anti-müllerian hormone or inhibin B levels in polycystic ovary syndrome? Results of a systematic review and meta-analysis.","authors":"Mei Jiang, Tao Huang, Daoyuan Jia, Ling Huang","doi":"10.1186/s12958-026-01576-3","DOIUrl":"10.1186/s12958-026-01576-3","url":null,"abstract":"<p><strong>Background: </strong>Anti-Müllerian hormone (AMH) and inhibin B (INHB) are validated ovarian reserve biomarkers with key roles in polycystic ovary syndrome (PCOS) pathogenesis. Serum AMH has specific diagnostic value for PCOS, yet their differential expression and clinical significance in obese versus non-obese PCOS phenotypes remain unclear. To fill this gap, we performed the first systematic review and meta-analysis comparing serum AMH and INHB levels between obese and non-obese women with PCOS, and explored heterogeneity sources.</p><p><strong>Methods: </strong>Thirty-eight observational studies (n = 15,003) were systematically retrieved and quality-assessed via the Newcastle-Ottawa Scale (NOS), with all scoring ≥ 7. Meta-analyses calculated pooled standardized mean differences (SMDs) for AMH and INHB levels, with subgroup analyses stratified by geographic region, BMI category, and age. Meta-regression analyzed the effects of these factors on AMH levels; sensitivity analyses and publication bias assessments verified result robustness.</p><p><strong>Results: </strong>Obese PCOS women had significantly lower serum AMH (SMD: -0.16; 95% CI: -0.29 to -0.02; P=0.02; I²=86%) and INHB (SMD: -0.98; 95% CI: -1.60 to -0.36; P=0.002; I²=90%) than non-obese counterparts. Meta-regression found no significant associations between AMH levels and geography (P=0.6516), BMI (P=0.2598), or age (P=0.5353). Subgroup analyses showed the most pronounced AMH differences in BMI ≤28 kg/m² (P=0.01) and ≥18-year-old (P=0.02) subgroups, with reduced heterogeneity here. AMH results were stable in sensitivity analysis, while INHB findings relied on a single study; funnel plot asymmetry suggested potential publication bias for AMH studies.</p><p><strong>Conclusion: </strong>Obesity correlates with markedly reduced AMH and INHB in PCOS, indicating metabolic impacts on ovarian reserve biomarkers. These findings highlight the need for weight-stratified interpretation of such markers and further investigation into obesity-related mechanisms in PCOS.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13495322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How endometrial thickness affects pregnancy and perinatal outcomes: a retrospective study of 16,566 frozen-thawed single blastocyst transfer cycles.","authors":"Luyang Zha, Lin Yu, Chenlu Zhang, Huahua Jiang, Dijia Bai, Zhaojin Du, Yaxin Guo","doi":"10.1186/s12958-026-01575-4","DOIUrl":"10.1186/s12958-026-01575-4","url":null,"abstract":"<p><strong>Background: </strong>Endometrial thickness (EMT) is widely monitored in assisted reproductive technology as a marker of implantation potential, yet its precise association with pregnancy and perinatal outcomes in frozen embryo transfer (FET) cycles remains controversial.</p><p><strong>Methods: </strong>This retrospective cohort study evaluated 16,566 single blastocyst FET cycles from a single center. Cycles were categorized into five distinct EMT groups: ≤7 mm, (7,8] mm, (8,9] mm, (9,10] mm, and > 10 mm. Generalized linear mixed-effects models with inverse probability treatment weighting were used to assess pregnancy and perinatal outcomes for singleton live births (LBs). Additionally, the modifying effects of maternal age and body mass index (BMI) on the associations between EMT and outcomes were evaluated through statistical interactions.</p><p><strong>Results: </strong>Compared to the reference group of (8-9] mm, an EMT of ≤ 7 mm was significantly associated with lower odds of live birth (LB) (aOR: 0.428, 95% CI: 0.353-0.519, p < 0.001), higher odds of miscarriage (aOR: 1.660, 95% CI: 1.231-2.238, p < 0.001) and preterm birth (PTB) (aOR: 1.919, 95% CI: 1.075-3.426, p < 0.05), and shortened gestational age (adjusted β: -0.505 weeks, 95% CI: -0.743 to - 0.266, p < 0.001). Conversely, an EMT > 10 mm was significantly associated with improved odds of LB (aOR: 1.254, 95% CI: 1.108-1.420, p < 0.001) without an increase in adverse perinatal outcomes. Tests for statistical interactions revealed that an EMT of (9,10] mm was associated with an increased risk of miscarriage in women aged ≥ 35 years (aOR = 1.47, 95% CI 1.12-1.94, p < 0.01), and maternal BMI appeared to modify the impact of EMT on birth weight.</p><p><strong>Conclusions: </strong>In FET cycles, an EMT ≤ 7 mm was associated with lower odds of LB and increased odds of PTB, whereas an EMT approaching 10 mm was associated with higher odds of LB. Clinically, our findings suggest that a thin endometrium alone may not necessarily warrant the cancellation of an embryo transfer. Given that maternal age and BMI potentially modulate the effects of EMT on clinical outcomes, individualized FET protocols might be beneficial.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13474672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148219207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal selection of ovarian stimulation protocol for infertile women with diminished ovarian reserve based on Bologna and POSEIDON criteria: a network meta-analysis.","authors":"Ting Zhu, Jie Zhang, Xiaoyu Zhang, Yutian Zhou, Chaoyi Wang, Yi Qian, Jinyong Liu, Dan Zhou, Juan Jiang, Yan Meng","doi":"10.1186/s12958-026-01573-6","DOIUrl":"10.1186/s12958-026-01573-6","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Patients with diminished ovarian reserve (DOR) present a significant challenge in assisted reproductive technology due to their poor ovarian response and lower pregnancy rates. Although multiple ovarian stimulation protocols are available, the optimal regimen for DOR patients remains uncertain, largely due to population heterogeneity and inconsistent outcome reporting.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Purpose: &lt;/strong&gt;To compare the efficacy of five commonly used controlled ovarian stimulation protocols, including GnRH agonist, GnRH antagonist, mild stimulation, progestin-primed ovarian stimulation (PPOS), and double ovarian stimulation (DOS), in patients with DOR, using a network meta-analysis stratified by Bologna and POSEIDON criteria.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This was a systematic review and network meta-analysis including randomized controlled trials and retrospective cohort studies identified through searches of PubMed, Cochrane Library, Web of Science, and Embase from inception to November 2024. The analysis involved studies comparing various controlled ovarian hyperstimulation (COH) regimens in DOR patients. The included studies enrolled women diagnosed with DOR based on Bologna or POSEIDON criteria. The primary outcome was live birth rate at the first embryo transfer (ET) cycle, while secondary outcomes included the number of oocytes retrieved, clinical pregnancy rate at first ET, cumulative live birth rate, and cycle cancellation rate. Network meta-analyses were performed using STATA V.14.0 and R V.4.3.2 to compare outcomes across different stimulation protocols within stratified patient groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;In the Bologna group, the double ovarian stimulation (DOS) protocol demonstrated significantly higher effectiveness in terms of live birth rates. Additionally, it yielded higher oocyte counts and clinical pregnancy rates, while also resulting in lower cycle cancellation rates. However, under the POSEIDON criteria, the results varied. For patients categorized in POSEIDON group 3, the GnRH agonist protocol achieved the highest live birth rate, significantly outperforming mild stimulation (OR 7.69, 95% CI: 3.57-16.67) and GnRH antagonist (OR 1.97, 95% CI: 1.36-2.85). The GnRH agonist protocol also led in oocyte retrieval, cumulative live birth rate, and clinical pregnancy rate, and showed a lower cycle cancellation risk. In contrast, for POSEIDON group 4 patients, no significant differences in live birth rates, clinical pregnancy rates or cycle cancellation risk were observed among protocols. While DOS resulted in higher oocyte retrieval than other protocols, GnRH agonist showed a higher cumulative live birth rate than GnRH antagonist (OR 1.25, 95% CI: 1.04-1.50).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;This analysis highlights the importance of individualized stimulation protocols based on patient stratification. For DOR patients, especially those classified using POSEIDON criteria, tailoring ovaria","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13459166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148176184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacodynamic interaction analysis of dydrogesterone, progesterone, and estradiol in combination-progestin HRT frozen embryo transfer: a prospective clinical cohort study.","authors":"Tanja K Eggersmann, Noemi Hamala, Roman Alexander Friedrich Hiller, Marion Depenbusch, Askan Schultze-Mosgau, Philippos Edimiris, Dunja Baston-Buest, Alexander P Bielfeld, Jan-Steffen Kruessel, Sören von Otte, Wiebe Junkers, Sascha Tauchert, Reinhard Vonthein, Georg Griesinger","doi":"10.1186/s12958-026-01569-2","DOIUrl":"10.1186/s12958-026-01569-2","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;In anovulatory hormone replacement therapy frozen embryo transfer (HRT-FET) cycles, reproductive success depends entirely on exogenous sex-steroid supplementation. Inadequate progesterone exposure remains a clinically relevant challenge, affecting up to one-third of patients receiving micronized vaginal progesterone (MVP) monotherapy. Combination regimens incorporating oral dydrogesterone (DYD) alongside MVP have been proposed to address this limitation. Critically, the absence of immunoassay cross-reactivity between DYD and progesterone enables simultaneous quantification of both progestins within a single patient - a methodological opportunity not yet exploited in outcome research. Using high-performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS), we investigated the independent and joint associations of DYD, dihydrodydrogesterone (DHD), progesterone (P), and estradiol (E2) with clinical outcomes in a combination-progestin HRT-FET regimen, establishing a novel pharmacodynamic interaction framework for HRT-FET protocol optimization.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This nested analysis included 111 women undergoing anovulatory HRT-FET within a prospective multicenter cohort (NCT03507673). Patients received oral estradiol (2 mg tid) followed by MVP (400 mg bid) and DYD (10 mg tid) from days 13-15. Serum and plasma samples collected on the day of FET were analyzed using HPLC-MS/MS for DYD and DHD, and immunoassay for P and E2. Clinical pregnancy and live birth were assessed as primary outcomes. Stratified and interaction analyses were performed to explore combined hormone-level effects.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Hormone concentrations showed broad interindividual variability with weak inter-analyte correlations (r ≤ 0.33), confirming pharmacodynamic independence of the two progestin pathways. No statistically significant independent association with live birth was observed for any single analyte. However, interaction analyses revealed consistent gradient patterns: live birth rates were highest when both DYD and P concentrations were elevated (67%) and lowest when both were in the lower range (27%). Analogous patterns were observed for DYD-E2 and P-E2 combinations, suggesting additive and substitutive pharmacodynamic interaction effects. Given the hypothesis-generating nature of this study, the sample size is appropriate for the exploratory interaction framework established here.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;This study introduces simultaneous dual-progestin quantification as a methodological platform for pharmacodynamic interaction research in HRT-FET. Exploratory interaction patterns between both progestins and estradiol suggest clinically relevant additive effects, while patterns between the two progestins are compatible with potential substitutive dynamics that can only be evaluated within combination regimens without analytical cross-reactivity. These findings provide a mechanistic fr","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced genetic diagnosis in early pregnancy loss: an integrated approach using CNV-Seq and STR genotyping.","authors":"Zhiying Zhang, Chunying Ren, Yuhui Wang, Jia Peng, Yuanhang Zhu, Yueli Wu, Chongyang Zhu, Xueyin Cui, Yaming Liu, Jian Zhao, Kenny A Rodriguez-Wallberg, Ling Liu","doi":"10.1186/s12958-026-01570-9","DOIUrl":"10.1186/s12958-026-01570-9","url":null,"abstract":"<p><strong>Purpose: </strong>Chromosomal abnormalities are a leading cause of early pregnancy loss (EPL). While copy number variation sequencing (CNV-seq) is gradually applied in clinical practice, its sensitivity for detecting triploidy and uniparental disomy (UPD) remains limited. This study aimed to evaluate whether integrating CNV-seq with short tandem repeat (STR) genotyping could improve diagnostic performance in EPL.</p><p><strong>Methods: </strong>In this study, 572 EPL samples were examined using CNV-seq combined with STR genotyping to detect chromosomal abnormalities, including triploidy and UPD, and to explore STR-based approaches for identifying the origin of abnormal chromosomes. Selected results were validated using karyotyping, CMA, MLPA, or FISH when necessary.</p><p><strong>Results: </strong>Chromosomal abnormalities were identified in 313 cases (54.7%), including autosomal aneuploidies (52.4%), CNVs (13.4%), sex chromosome aneuploidies (11.5%), multiple trisomies (3.5%), and mosaicism (3.5%). STR genotyping identified 38 additional cases (35 triploidy, 3 UPD) missed by CNV-seq, elevating the overall diagnostic yield by 6.6% (p < 0.05). Parental origin analysis revealed distinct distribution patterns: 69,XXY triploidies were predominantly of paternal origin (80.8%), whereas 69,XXX cases were mostly maternal (88.9%); all detected UPD cases were paternally derived. Among 134 common autosomal aneuploidies, maternal meiotic errors accounted for 91.8% of occurrences.</p><p><strong>Conclusion: </strong>The combination of CNV-seq and STR genotyping significantly improves the detection efficiency of triploidy, mosaicism, and other complex chromosomal anomalies, compensating for crucial limitations of conventional CNV-seq. Further STR-based parental tracing facilitates the identification of chromosomal aberration origins and reveals error formation patterns, thereby providing robust evidence for clinical etiological interpretation of early pregnancy loss.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13307679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148056550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endometriosis disrupts oocyte metabolism and cortical granule function, impairing fertilization.","authors":"Omar G Klinsky, Paula A Wetten, Julio E Romani, Emilia C Abraham, Marcela A Michaut","doi":"10.1186/s12958-026-01571-8","DOIUrl":"10.1186/s12958-026-01571-8","url":null,"abstract":"<p><strong>Background: </strong>Endometriosis is a chronic inflammatory disease strongly associated with reduced oocyte quality and subfertility, yet the underlying cytoplasmic defects remain poorly understood.</p><p><strong>Methods: </strong>Using a surgically induced autologous mouse model, we examined whether endometriosis alters oocyte metabolism, cortical granule (CG) biology, actin architecture, SNARE-regulated exocytosis, fertilization, and early embryonic activation.</p><p><strong>Results: </strong>Endometriosis markedly increased intracellular reactive oxygen species and altered quinacrine-positive acidic vesicular compartments in ovulated oocytes. Although CG localization was preserved, endometriotic oocytes failed to undergo strontium chloride-induced CG exocytosis. These defects correlated with a significantly thickened cortical F-actin cytoskeleton and a substantial reduction in α-SNAP and NSF levels-two essential regulators of SNARE complex disassembly and membrane fusion. Functionally, endometriotic oocytes exhibited decreased fertilization rates without evidence of polyspermy, while their ability to undergo TPEN-induced parthenogenetic activation and second polar body extrusion remained unchanged.</p><p><strong>Conclusions: </strong>These findings demonstrate that endometriosis impairs multiple aspects of cytoplasmic maturation-metabolic homeostasis, actin remodeling, and CG exocytotic machinery-ultimately reducing sperm-oocyte fusion efficiency while preserving early embryonic activation capacity. This mechanistic insight provides a foundation for understanding how endometriosis compromises oocyte competence.</p>","PeriodicalId":21011,"journal":{"name":"Reproductive Biology and Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13386785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148016972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}