Journal of Assisted Reproduction and Genetics最新文献

{"title":"Biallelic FSIP2 variants are associated with sperm defective chromatin condensation beyond MMAF and acrosomal abnormalities.","authors":"Junyan Chen, Yisi Sun, Tong Zhou, Jing Zhou, Minmin Hua, Miao Liu, Xiaorong Shen, Jianan Tang, Xuemei Wang, Huijuan Shi, Yongning Lu, Aijie Xin","doi":"10.1007/s10815-026-04017-7","DOIUrl":"https://doi.org/10.1007/s10815-026-04017-7","url":null,"abstract":"<p><strong>Purpose: </strong>Biallelic variants in FSIP2 have been associated with multiple morphological abnormalities of the sperm flagella (MMAF) and acrosomal defects. This study aimed to characterize the genetic, sperm phenotypic, and reproductive features of infertile men carrying homozygous FSIP2 variants, with particular attention to sperm nuclear ultrastructure and chromatin condensation.</p><p><strong>Methods: </strong>Two infertile men with severe sperm morphological abnormalities were enrolled. Whole-exome sequencing and Sanger sequencing were performed to identify candidate variants. Sperm morphology, FSIP2 expression, acrosomal status, nuclear ultrastructure, and chromatin condensation were evaluated using routine semen analysis, immunofluorescence staining, transmission electron microscopy, and chromomycin A3 (CMA3) staining. Intracytoplasmic sperm injection outcomes were reviewed.</p><p><strong>Results: </strong>Two homozygous FSIP2 variants were identified in two men with primary infertility, including a frameshift variant, NM_173651.3: c.2519delA, p.(Asn840Metfs*43), and a missense variant, NM_173651.3: c.17798C > T, p.(Ser5933Phe). The missense variant, previously reported in a compound heterozygous context, was identified here in a homozygous state. Spermatozoa from both patients exhibited typical MMAF phenotypes and markedly reduced or absent FSIP2 signals. Acrosomal loss or abnormal acrosomal localization was also observed. Notably, spermatozoa from both patients showed prominent intranuclear vacuoles and increased CMA3 staining, suggesting defective chromatin condensation. After ICSI, both couples achieved fertilization, and one couple achieved a live birth.</p><p><strong>Conclusions: </strong>These findings suggest an expansion of the genotypic and phenotypic spectrum of FSIP2-associated male infertility. In the two cases studied, biallelic FSIP2 variants were associated with classical MMAF and acrosomal abnormalities, as well as with abnormal nuclear ultrastructure and increased CMA3 staining indicative of impaired chromatin condensation. However, further studies are needed to establish whether these nuclear features represent a direct consequence of FSIP2 deficiency.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857180","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":"Follicular kisspeptin-VEGF axis in polycystic ovary syndrome and ovarian hyperstimulation syndrome.","authors":"Oya Korkmaz, Seda Karabulut, Pelin Macit","doi":"10.1007/s10815-026-04014-w","DOIUrl":"https://doi.org/10.1007/s10815-026-04014-w","url":null,"abstract":"<p><strong>Purpose: </strong>Polycystic ovary syndrome (PCOS) and ovarian hyperstimulation syndrome (OHSS) are characterized by excessive follicular activity and profound alterations in the ovarian microenvironment. Kisspeptin and vascular endothelial growth factor (VEGF) play central roles in the regulation of folliculogenesis, angiogenesis, vascular permeability, and ovarian responsiveness. This study aimed to compare follicular fluid levels of Kisspeptin-1, Kisspeptin-54, and VEGF among women with PCOS, women who developed OHSS, and normoresponder controls, and to investigate their associations with established markers of ovarian response.</p><p><strong>Methods: </strong>In this retrospective cross-sectional study, 90 women undergoing IVF treatment were stratified into three groups: normoresponder controls (n = 30), women with PCOS (n = 30), and patients who developed OHSS (n = 30). Follicular fluid samples were collected at the time of oocyte retrieval. Concentrations of Kisspeptin-1, Kisspeptin-54, and VEGF were quantified using validated enzyme-linked immunosorbent assay (ELISA) methods. Clinical, hormonal, and embryological parameters were collected and analyzed using group comparisons, correlation analyses, and multivariable logistic regression models.</p><p><strong>Results: </strong>Follicular fluid concentrations of Kisspeptin-1, Kisspeptin-54, and VEGF differed significantly among study groups (all p < 0.001), demonstrating a progressive increase from normoresponder controls to women with PCOS and those who developed OHSS. Kisspeptin-54 and VEGF exhibited strong positive correlations with established indicators of ovarian response, including AMH, AFC, trigger-day estradiol levels, total oocyte yield, MII oocyte count, and the number of good-quality embryos (r = 0.41-0.78, all p < 0.001). In multivariable logistic regression analyses, Kisspeptin-54 (OR = 1.031) and VEGF (OR = 1.008), together with AFC, AMH, trigger-day estradiol, and total oocyte count, remained significantly associated with OHSS occurrence (all p < 0.01).</p><p><strong>Conclusions: </strong>Follicular fluid levels of Kisspeptin-1, Kisspeptin-54, and VEGF are significantly elevated in ovarian hyperresponse conditions and exhibit strong associations with key indicators of ovarian stimulation outcomes. These findings suggest that Kisspeptin-54 and VEGF reflect the biological features of ovarian hyperresponsiveness and may serve as complementary biomarkers of the follicular microenvironment, rather than clinically actionable predictors of OHSS.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148850439","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":"The outcomes of surrogate pregnancy using donor egg compared to surrogate's egg: a systematic review.","authors":"Phoebe Barry, Elizabeth Choong, Catherine Meads, Susan Bewley","doi":"10.1007/s10815-026-04003-z","DOIUrl":"https://doi.org/10.1007/s10815-026-04003-z","url":null,"abstract":"<p><strong>Purpose: </strong>Surrogacy is either gestational (GS) using donor egg or traditional (TS) using surrogate's own egg. GS is increasing, partly from assumptions over less difficulty in transferring the baby to intended parents. This systematic review investigates obstetric outcomes in GS vs TS and vs surrogate's own spontaneous conceptions (SC), comparing genetically unrelated embryos versus genetically related embryos.</p><p><strong>Methods: </strong>Included were studies with historical or concurrent GS to TS or to SC comparisons, reporting any obstetric outcomes. MEDLINE, Embase, Global Health, and PsycINFO databases were searched to October 2024, 34 specialist surrogacy researchers' publications assessed. Citations, data extraction, and quality assessment were conducted in duplicate. Results tabulated, and random-effects meta-analysis using relative risks (RR) conducted (Cochrane Revman software version 5.4.1).</p><p><strong>Results: </strong>From 937 records, eight studies were included, four each in singleton pregnancies comparing GS to TS and TS to SC. GS to TS studies were small with imprecise results on obstetric and mental health outcomes. GS to SC studies showed worse pre-eclampsia/gestational hypertension (RR = 2.39 (95% CI = 1.15-4.49)), gestational diabetes (RR = 4.68 (95% CI = 1.53-14.25)), and pre-term birth (RR = 3.18 (95% CI = 1.64-6.14)).</p><p><strong>Conclusions: </strong>Current best available evidence is sparse but suggests higher rates of adverse obstetric and birth outcomes in GS pregnancies, concurring with donor egg non-surrogacy pregnancy research, and underlying causes are likely genetic. More research is needed comparing GS to TS and to SC and reporting singleton and twin pregnancy results. All parties considering GS should be informed of higher maternal and neonatal complication rates.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148850402","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":"Ovarian ageing: from biological constraint to emerging therapeutic frontier.","authors":"Rana Mondal, Mouli Nandi","doi":"10.1007/s10815-026-04011-z","DOIUrl":"https://doi.org/10.1007/s10815-026-04011-z","url":null,"abstract":"<p><p>Ovarian ageing is a central determinant of female reproductive potential, defined by a progressive and largely irreversible decline in both the quantity and the quality of oocytes. Although the process is universal, its onset and pace vary widely, and early ovarian ageing (EOA) affects a substantial minority of women, contributing to subfertility, miscarriage and earlier menopause. This narrative review synthesises current understanding of the biology, diagnosis and management of ovarian ageing. Two interrelated but partly independent processes drive the decline: exhaustion of the primordial follicle pool and deterioration of oocyte developmental competence. Beneath them lies an interconnected molecular network encompassing mitochondrial and metabolic dysfunction, genomic and meiotic instability, cellular senescence and inflammation and progressive ageing of the ovarian microenvironment. In clinical practice, assessment still depends on surrogate markers-anti-Müllerian hormone (AMH), antral follicle count (AFC) and follicle-stimulating hormone (FSH)-that quantify reserve but cannot measure oocyte quality; importantly, these markers predict ovarian response rather than natural fertility, and improvements in AMH, AFC, oocyte yield or menstrual function do not necessarily translate into better oocyte competence, euploid embryo formation or live birth. Management remains centred on fertility preservation and optimisation of assisted reproductive technology, with pharmacological adjuvants offering, at best, modest and inconsistent benefit and none currently endorsed by guidelines for improving live birth. A new generation of experimental strategies-in vitro activation, platelet-rich plasma, stem-cell and exosome therapies, mitochondrial replacement and in vitro gametogenesis-signals a conceptual shift from managing decline towards restoring ovarian function, but the supporting evidence remains preliminary. Despite remarkable progress, no intervention currently reverses ovarian ageing or reliably improves age-related oocyte competence, and bridging this gap will require rigorous translational research and careful, evidence-based clinical integration.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840358","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":"Presumed recurrent monozygotic dichorionic diamniotic twinning following programmed single thawed euploid embryo transfer cycles: a case report.","authors":"Zoey McFarland, Carlos M Parra, Amelia Kelly, Caroline McCaffrey, Patty Labella, James Grifo, Jennifer Blakemore","doi":"10.1007/s10815-026-04010-0","DOIUrl":"https://doi.org/10.1007/s10815-026-04010-0","url":null,"abstract":"<p><p>To our knowledge, this is the first documented case of presumed recurrent monozygotic (MZT) dichorionic diamniotic (DCDA) twin gestations following programmed single thawed euploid embryo transfer (STEET) cycles in an individual who is herself a MZT twin. This report presents a 34-year-old nulligravid female patient and her 33-year-old male partner with unexplained infertility who underwent in vitro fertilization with preimplantation genetic testing for aneuploidy followed by subsequent embryo transfers, resulting in a presumed MZT DCDA twin gestation (STEET #1), a singleton gestation (STEET #2) and a confirmed MZT DCDA twin gestation (STEET#3). Monozygosity was confirmed for the second twin gestation (STEET #3) via single nucleotide polymorphism (SNP)-based cell-free DNA screening; the first twin gestation (STEET#1) is presumed to be MZT with high likelihood given that it resulted from a STEET performed in the setting of confirmed ovulation suppression. Chorionicity was confirmed via first-trimester ultrasound in both twin gestations (STEET #1 and #3). Nevertheless, this case shows that recurrent MZT DCDA twinning may be possible even after single blastocyst transfer and that observed chorionicity may not always conform to traditional twinning. Further research is needed to better understand the mechanisms and predisposing factors underlying MZT twinning as well as the development of DCDA twin gestations after single blastocyst transfers in assisted reproduction. Specific factors contributing to early embryo splitting may relate to the individual person, the embryo cohort or laboratory techniques. Informed consent counseling should include a discussion that MZT DCDA twinning remains a rare but real possibility despite single embryo transfer.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828812","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":"Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.","authors":"Stylianos Vagios, Alana Mermin-Bunnell, Christopher K Arkfeld, Alexa M Sassin, Kaitlyn James, Irene Souter, Frida Polli, David Pepin","doi":"10.1007/s10815-026-04015-9","DOIUrl":"https://doi.org/10.1007/s10815-026-04015-9","url":null,"abstract":"<p><strong>Purpose: </strong>Polycystic ovary syndrome (PCOS)/polyendocrine metabolic ovarian syndrome (PMOS) is the most prevalent endocrine disorder in reproductive-age women and is characterized by long-term metabolic consequences. The purpose of this study is to delineate the metabolomic profile in lean and non-lean PMOS patients.</p><p><strong>Methods: </strong>Retrospective cross-sectional study includes 4768 premenopausal patients with available body mass index (BMI) and metabolomics information at the Mass General Brigham (MGB) Biobank. The Biobank includes samples collected from 05/2010 to 08/2023 with unique metabolomic biomarkers that encompass key metabolic pathways, including lipids, amino acids, and glycolysis-related metabolites. The main outcome measures were metabolomic profile differences between PMOS (n = 403) and non-PMOS patients (n = 4365). Sub-analyses were performed within normal BMI (< 25 kg/m²), overweight BMI (25-29.9 kg/m²), and obesity BMI (≥ 30 kg/m²) subgroups.</p><p><strong>Results: </strong>PMOS patients were younger (p < 0.001) and had higher BMI (p < 0.001). When considering the total population and adjusting for age, BMI, exercise, metformin, oral contraceptive pills (OCPs), and glucagon like peptide-1 (GLP-1) agonists, PMOS affected the expression of only 1/71 (1.4%) parameter compared to the non-PMOS group. In the normal BMI sub-group, there were no differences in any of the metabolomic parameters when controlling for age, exercise, metformin, OCPs, and GLP-1 agonists except for creatinine levels that were lower in PCOS. In the overweight BMI sub-group, when adjusting for the same confounders, PMOS diagnosis had an impact on 4/71 (5.6%) of the metabolomic parameters, mostly in the family of amino acids. Lastly, in the obesity BMI subgroup, adjusted analysis showed no association between PMOS and any of the metabolites under evaluation.</p><p><strong>Conclusion: </strong>Metabolomic signatures of PMOS differ by BMI phenotype. Minimal disturbances were noted in lean PMOS patients. In contrast, PMOS patients with overweight BMI demonstrate broader metabolomic differences and subsequent implications.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840330","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":"Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C.","authors":"Maria Tofilo, Ilya Volodyaev, Evgenii Tretiakov, Olga Kokorina, Svetlana Avdeichik, Anna Smirnova, Elena Grechenko, Anna Filimonova, Natalia Sudarikova, Anastasia Kirillova, Ilya Mazunin","doi":"10.1007/s10815-026-04012-y","DOIUrl":"https://doi.org/10.1007/s10815-026-04012-y","url":null,"abstract":"<p><strong>Purpose: </strong>Is blastocyst-stage trophectoderm (TE) biopsy informative for preimplantation genetic testing of the mitochondrial DNA (mtDNA) variant m.14487 T > C (MT-ND6), by providing heteroplasmy estimates representative of the inner cell mass (ICM), within a combined PGT-A/PGT-mt workflow?</p><p><strong>Methods: </strong>Single IVF/ICSI cycle study in one carrier woman; six blastocysts were obtained and underwent day 5-6 TE biopsy followed by combined PGT-A and targeted mtDNA heteroplasmy assessment.</p><p><strong>Results: </strong>Six blastocysts underwent combined PGT-A/PGT-mt (day 5, n = 2; day 6, n = 4). PGT-A classified three embryos as euploid, two as aneuploid, and one as mosaic. PGT-mt showed a bimodal distribution of m.14487 T > C heteroplasmy: three embryos were < 18% (11.4-13.5%) and three were > 70% (73.2-99.6%); only one embryo met the predefined transfer criteria (euploid; 11.4% heteroplasmy). After warming and embryo fractionation, heteroplasmy estimates from the original TE biopsy and the corresponding post-warming embryo fraction (the remaining TE, ICM, or combined TE + ICM) were closely concordant, with only small paired differences.</p><p><strong>Conclusion: </strong>These findings provide variant-specific evidence that blastocyst TE biopsy can be representative of the ICM for m.14487 T > C, supporting combined PGT-A/PGT-mt at the blastocyst stage. Nevertheless, given the possibility of heteroplasmy shifts later in development, prenatal diagnosis and postnatal follow-up remain advisable when a heteroplasmic embryo is transferred.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828809","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 biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance.","authors":"Xin-Jie Zhuang, Yue Li, Xin Qiu, Jin-Liang Zhu, Ming Li, Xu Zhi, Rong Li, Ping Liu","doi":"10.1007/s10815-026-04007-9","DOIUrl":"https://doi.org/10.1007/s10815-026-04007-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;The mutational landscape of PATL2 and corresponding genotype-phenotype correlations remain incompletely defined in patients presenting unexplained oocyte maturation defect (OOMD) and repeated assisted reproductive technology (ART) failure. This study aimed to identify pathogenic biallelic PATL2 variants, characterize their molecular structural defects, and delineate consistent reproductive phenotypes to support standardized genetic testing and reproductive counseling for affected infertile individuals.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;Single-center retrospective observational cohort study including six unrelated infertile women with refractory, idiopathic OOMD and ≥ 2 consecutive failed ART cycles. Whole-exome sequencing (WES) followed by Sanger sequencing validation was performed for pathogenic variant screening. A panel of bioinformatic pipelines was applied to assess variant deleteriousness, including cross-species evolutionary conservation analysis, 3D protein modeling, and molecular dynamics simulations. Clinical reproductive data from a total of 16 independent ART treatment cycles were systematically analyzed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Ten distinct pathogenic PATL2 variants were identified, consisting of eight previously unreported novel alleles and two known disease-causing variants. The eight novel variants included four protein-truncating variants and four deleterious missense substitutions; all novel variants carried extremely low minor allele frequencies (MAF &lt; 0.01%) in public population variant databases. Regardless of variant category (truncating vs. missense) or zygosity status, all affected subjects exhibited a highly uniform clinical phenotype dominated by irreversible germinal vesicle (GV)-stage meiotic arrest. Across all 16 treatment cycles, no clinical pregnancy was achieved after all routine and rescue ART interventions. Both truncating variants causing complete PATL2 loss-of-function and missense variants disrupting native protein folding resulted in equivalently severe oocyte developmental impairment. Structural simulation analyses demonstrated that all identified variants disrupted intramolecular hydrogen bond networks and destabilized PATL protein conformation, interfering with maternal mRNA homeostasis and meiotic resumption.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Biallelic pathogenic PATL2 variants constitute a major monogenic driver of refractory GV-predominant OOMD and complete recurrent ART failure. This work substantially expands the global spectrum of disease-causing PATL2 variants. Our clinical and molecular findings support routine PATL2 genetic screening for patients with unexplained repeated ART failure and uniform GV oocyte arrest and enable personalized reproductive counseling. This study establishes a framework for further functional validation and the development of targeted therapies for PATL2-mediated female infertility and provides actionable genetic testing criteria for A","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828758","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":"Correction: Influence of parental age on chromosomal abnormalities in PGT-A embryos: exponentially increasing in the mother and completely null in the father.","authors":"Roberto Matorras, Silvia Sierra, Silvia Pérez-Fernández, Iker Malaina, Borja Santos-Zorrozua, Begoña Prieto, Fernando Quintana, Marcos Ferrando, Carmen Rubio, Maitane Gantxegi","doi":"10.1007/s10815-026-04008-8","DOIUrl":"https://doi.org/10.1007/s10815-026-04008-8","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148818540","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":"Gut microbiota signatures associated with spermatogenic capacity and sperm retrieval outcomes in non-obstructive azoospermia.","authors":"I-Shen Huang, Carl Jay Ballena Bregente, Tzu-Ping Lin, Eric Yi-Hsiu Huang, Cheng-Yen Kao, William J Huang","doi":"10.1007/s10815-026-04002-0","DOIUrl":"https://doi.org/10.1007/s10815-026-04002-0","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize gut microbiota composition in men with non-obstructive azoospermia (NOA) and evaluate associations with sperm retrieval outcomes following microdissection testicular sperm extraction (mTESE).</p><p><strong>Methods: </strong>In this prospective cohort, fecal samples from 39 azoospermic men (obstructive azoospermia [OA], n = 14; NOA, n = 25) were analyzed. NOA patients were stratified into successful (NOA ( +)) and unsuccessful (NOA ( -)) sperm retrieval groups. Full-length 16S rRNA sequencing (PacBio) was performed. Microbial composition, diversity, and differential taxa were analyzed using QIIME2, DADA2, and linear discriminant analysis effect size (LEfSe). Receiver operating characteristic (ROC) analysis was used to assess the predictive performance of candidate markers.</p><p><strong>Results: </strong>Compared with OA, NOA patients showed reduced Bacteroidota and increased Proteobacteria, indicating gut dysbiosis. Alpha diversity was similar between groups, whereas beta-dispersion revealed greater microbial variability in NOA. Within the NOA cohort, the NOA ( +) group exhibited a higher Firmicutes-to-Bacteroidota ratio and distinct microbial profiles. Finegoldia magna and other Firmicutes taxa were enriched in NOA ( +), whereas Bacteroidota-associated taxa predominated in NOA ( -). The Firmicutes-to-Bacteroidota ratio predicted successful retrieval with an area under the curve of 0.76, and Finegoldia magna abundance showed high specificity, although these findings were exploratory.</p><p><strong>Conclusion: </strong>Gut microbiota composition differs by azoospermia etiology and is associated with mTESE outcomes. Enrichment of Finegoldia magna and increased Firmicutes in NOA ( +) suggest a potential role of the gut-testis axis. Gut microbiota profiling may represent a non-invasive correlate of sperm retrieval success, although these exploratory findings require validation in larger independent cohorts.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793721","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}