Reproduction, fertility, and development最新文献

{"title":"Reconstruction of endometrial histoarchitecture and receptivity genes in Asherman's syndrome patients using a 3D acellular amnion bilayer scaffold seeded with endometrial cells.","authors":"Budi Wiweko, Normalina Sandora, Muharam Raden, Achmad Kemal Harzif, Tyas Rahmah Kusuma, Nur Amalina Fitria, Benati Karimah, Mila Maidarti, Kanadi Sumapraja, Gita Pratama, Muhammad Dwi Priangga, Natasha Karlina Law, Andon Hestiantoro","doi":"10.1071/RD24200","DOIUrl":"https://doi.org/10.1071/RD24200","url":null,"abstract":"<p><p>Context Thin endometrium with Asherman's syndrome is a challenge in in vitro fertilisation, as patients cannot conceive even if the embryo is well. Aims This study aimed to regenerate thin endometria unresponsive to treatments, using autologous endometrial cells and acellular amnion bilayer as a womb patch. Methods This preliminary quasi-experimental study investigated thin endometria before and after intervention with an amnion bilayer (AB) and AB with self-endometrial cells (AB+Cells). Patients were IVF candidates with oligomenorrhea, endometrial thickness (EMT) Key results Average EMT increased significantly from 5.03±0.95mm to 6.75±1.39mm after AB, and further to 7.33±1.92mm after AB+Cells. Cell density was significantly higher after AB+Cells. The histoarchitecture after AB+Cells developed into a complex tubular system, and E-cadherin and oestrogen receptor alpha (ER-α) was detected. Homeobox A10 (HOXA10 ) expression increased significantly, up to 4.5-fold after AB+Cells treatment compared with before treatment (P =0.01), while leukaemia inhibitory factor (LIF ) and osteopontin (SPP1 ) levels also increased, but not significantly. Significant changes in gene expression and cell populations were observed, with improvements in receptivity genes. Conclusions Patients with thin endometria showed improvement in EMT, histoarchitecture, and receptivity genes after AB and AB+Cells intervention. Implications The study demonstrates the potential of using a 3D amnion bilayer scaffold with endometrial cells to improve endometrial regeneration.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intermittent fasting restores fertility dysfunction caused by a high-fat diet in male rats: role of SIRT-1/NRF2/P38 MAPK/NLRP3.","authors":"Dalia A Hemead, Nanees F El-Malkey, Mohamed Aref, Nievin Ahmed Mahran, Esraa ElSheikh, Mohamed A Nassan, Mohamed H A Gadelmawla, Gamal A Salem, Amira F A Ahmed, Sahar M El-Sayed, Eman H Elsheikh, Nehal I Hendy","doi":"10.1071/RD24187","DOIUrl":"https://doi.org/10.1071/RD24187","url":null,"abstract":"<p><p>Context Intermittent fasting (IF) is a dietary approach against obesity; however, investigations on its role in male fertility showed contradictory results. Aims As nuclear factor erythroid 2-related factor 2 (NRF2)/mitogen-activated protein kinase p38 (MAPK)/nucleotide-binding oligomerization domain-like receptor with a pyrin domain 3 (NLRP3) signaling pathways regulate inflammation and pyrotosis, this study aimed to elucidate whether these pathways are involved in the underlying molecular mechanisms and to investigate the prophylactic effects of IF on male reproduction dysfunction in obese rats. Methods Twenty-four adult rats were divided as follows: Control lean (CL), control positive (CP), which were fed standard diet for four non-consecutive days/week, with alternate fasting on the other 3days (24h fasting), high-fat diet group (HFD), and the HFD-fasting group (HFD-IF), which was fed a HFD, followed by fasting protocol as in CP group. Serum testosterone, inflammatory markers, semen analysis, testicular malondialdehyde (MDA) concentration, and superoxide dismutase (SOD) activity were measured. Also, testicular and epididymal histological study, immunohistochemical analysis of NLRP3 and NRF2 and reverse-transcription quantitative polymerase chain reaction (RT-qPCR) for mRNA expression of SIRT1, NRF2, p38AMPK and NLRP3 were performed. Key results Combining IF with HFD limited rats' testicular spermatic and steroidogenesis impairment, histopathological alterations, by upregulating SIRT1/NRF2 and downregulating p38 MAPK/NLRP3 signaling pathways versus the HFD group. In the HFD-IF group, oxidative and inflammatory markers had a significant decrease versus in the HFD group. Conclusions IF has a beneficial effect on male reproductive health and emphasizes the significance of customized dietary strategies for addressing male fertility issues. Implications Further investigation is required to clarify more prophylactic mechanisms of IF.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular dynamics simulations of cytochrome P450 aromatases reveal structural variances across the cat family.","authors":"Rageshwari R Marolikar, Paul D O'Leary, Ajay Singh Panwar, Lisandra L Martin","doi":"10.1071/RD25062","DOIUrl":"https://doi.org/10.1071/RD25062","url":null,"abstract":"<p><p>Context Aromatase (CYP19A1) is a key enzyme in steroidogenesis, converting androgens to oestrogens, essential for reproductive function in vertebrates. While human aromatase has been extensively studied, comparative analyses in mammals, particularly felids, remain limited. Aims This study investigates the structural and functional dynamics of aromatase in various cat species, including the extinct Homotherium latidens and extant species such as Panthera tigris , Puma concolor , Acinonyx jubatus , and Felis catus . The goal is to assess evolutionary differences affecting dimerisation and enzymatic activity. Methods Homology models of feline aromatase were built using the human aromatase crystal structure as a template. Molecular dynamics (MD) simulations were conducted in both solvent and membrane environments to evaluate dimer stability, electrostatic interactions, and haem cofactor retention. Key results Sequence analysis showed over 99% conservation within felids and ~86% identity with human aromatase, with 69 key residue differences. MD simulations revealed that substitutions at the dimerisation interface weakened electrostatic interactions, reducing dimer stability in felids compared to humans. Membrane embedding improved stability, particularly in human aromatase, due to strong hydrogen-bonding interactions. Conclusions Evolutionary divergence has altered dimerisation stability in feline aromatases, potentially influencing enzymatic function. Reduced dimer formation may impact substrate binding and catalytic efficiency. Implications These findings provide insights into aromatase evolution and function, offering a foundation for future research into species-specific steroid biosynthesis and potential drug design strategies.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modelling menstruation in the common mouse: a narrative review.","authors":"Laura M Rogers, Gendie E Lash, Greg M Anderson, Jane E Girling","doi":"10.1071/RD25055","DOIUrl":"https://doi.org/10.1071/RD25055","url":null,"abstract":"<p><p>Despite occurring in up to 50% of the human population, menstruation is a fundamentally understudied process with limited treatment options when menstrual pathologies arise. Reasons for this deficit include the inherent ethical and technical constraints associated with researching menstruation. The multifactorial nature of many menstrual-related pathologies means in vivo research is necessary; however, this type of research is difficult in humans, and non-human species that menstruate naturally are often not suitable as research models. Consequently, most menstrual research relies on an artificially induced menstrual-like process in the non-menstruating laboratory mouse. This review investigates mouse models of menstruation and how specific technical variables are used to produce or modulate a menstrual-like process. The review describes two key categories of models, those that are ovariectomy-based versus those that are pseudopregnancy-based. The menstrual-like process occurring in these models varied slightly;the underlying reason for the variation is likely to be the method of progesterone withdrawal. Models that withdrew progesterone specifically had a far less rapid endometrial breakdown in comparison to those that withdrew all ovarian input. These outcomes suggest that a loss of ovarian factors other than progesterone is likely impacting the breakdown process. The review highlights the gaps in our understanding of the mechanisms of endometrial breakdown and repair in these proxies for menstruation and the subsequent impacts on any conclusions drawn from these models.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145116016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of irisin in the porcine pituitary gland during the oestrous cycle and early pregnancy: the role of GnRH, gonadotropins, and insulin.","authors":"Barbara Zarzecka, Kamil Dobrzyn, Marta Kiezun, Grzegorz Kopij, Monika Dawid, Agnieszka Rak, Cecilia Dall'Aglio, Tadeusz Kaminski, Nina Smolinska","doi":"10.1071/RD25057","DOIUrl":"https://doi.org/10.1071/RD25057","url":null,"abstract":"<p><p>Context Metabolic status significantly affects female reproductive function, with both excess and deficiency of body fat negatively affecting fertility. Irisin, a hormone secreted by muscle and fat tissue, is linked to metabolism and reproduction, but its role in the pituitary gland remains unclear. Aims This study investigated the expression of irisin and its receptor (integrin αV/β5) in the anterior (AP) and posterior (PP) lobes of the porcine pituitary during the oestrous cycle and early pregnancy. We hypothesised that they are localised in specific pituitary cell types and that gonadotropin-releasing hormone (GnRH), luteinising hormone (LH), follicle-stimulating hormone (FSH), and insulin modulate irisin expression and secretion by AP cells. Methods The expression of irisin and integrin αV/β5 was analysed using quantitative real-time polymerase chain reaction (qPCR) and western blotting. Immunofluorescence was used to determine colocalisation with pituitary hormones. AP cells were cultured in vitro and treated with GnRH, LH, FSH, or insulin to assess their effects on irisin protein concentrations and secretion. Key results Irisin and its receptor were expressed in both AP and PP lobes and colocalised with all major trophic cell types. Their expression varied depending on the reproductive stage. GnRH, LH, FSH, and insulin inhibited irisin secretion by AP cells during the luteal phase, whereas only insulin had an effect during the follicular phase. Conclusions Irisin and its receptor are expressed in a hormone-dependent manner and localise to specific pituitary cell types, suggesting intra-pituitary regulatory roles. Implications These findings indicated that irisin may act as a local modulator of pituitary function and reproductive hormone regulation, linking metabolic and reproductive health.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145116004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive proteomic characterization and functional annotation of common carp seminal plasma.","authors":"Anna Malgorzata Majewska, Natalia Kodzik, Mariola Aleksandra Dietrich, Andrzej Ciereszko","doi":"10.1071/RD25034","DOIUrl":"https://doi.org/10.1071/RD25034","url":null,"abstract":"<p><p>Context Understanding the protein composition of seminal plasma is crucial for elucidating reproductive mechanisms and improving aquaculture practices. Proteomic studies provide insights into the biological functions of seminal plasma in fish, yet comprehensive datasets for carp remain limited. Aims This study aimed to comprehensively characterize the proteome of carp seminal plasma, classify identified proteins on the basis of their cellular localization, and explore their functional roles in reproductive and physiological processes. Methods Using high-throughput liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based proteomic analysis and updated Cyprinus carpio genome annotation, we identified and classified proteins on the basis of homology to human genes and fish-specific annotations. Bioinformatic tools were employed to analyze their functions and involvement in key biological pathways. Key results In total, 1402 proteins were identified, the highest number being reported for this species. Of the 1354 proteins homologous to human genes, 141 were secretory, 92 were both secretory and intracellular, and 1121 were intracellular. Additionally, 49 proteins were fish-specific, involved in immune response, detoxification, cold protection, and proteolytic defence. Bioinformatic analyses indicated roles in immune and stress responses, extracellular matrix organization, metabolism, and gene expression. The presence of extracellular vesicles was supported by the identification of 636 associated proteins. Reproductive-related proteins were linked to gamete generation, spermatogenesis, and sperm motility. Conclusions This dataset represents the most comprehensive proteomic profile of carp seminal plasma, offering new insights into its biological functions. Implications The findings enhance our understanding of carp reproductive biology and have potential applications in aquaculture, including sperm preservation, fertilization success, and disease resistance.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Technical report on preservation of dromedary camel embryos at 4°C for up to 72 h in catalase-supplemented media.","authors":"Julian Alexandra Skidmore, Brendan Patrick Mulligan, Jane Louise Vaughan","doi":"10.1071/RD25030","DOIUrl":"https://doi.org/10.1071/RD25030","url":null,"abstract":"<p><p>Context Catalase, an antioxidant, prolonged camel sperm survival during storage at 5°C; however, its effect on storage of camel embryos at 4°C is unknown. Aims This study aims to evaluate the possibility of improving pregnancy rates for embryos stored at 4°C for 24-72h in catalase-supplemented media. Methods Embryos recovered from camels flushed 8days after mating were deposited in Eppendorf tubes containing embryo holding media, either supplemented with 500 IU catalase (Group 1) or without supplementation (Group 2). These Eppendorf tubes were placed in an Equitainer and cooled to 4°C. After 24h, 11 embryos in each group were transferred into recipients 7days after gonadotropin-releasing hormone injection, and the remainder was placed in the fridge at 4°C for a further 24 (n =11/group) or 48h (n =11/group) before transfer. Key results A non-significant increase in pregnancy rate was achieved from embryos cooled in media containing catalase compared with the controls at 24 and 48h, although there was no difference at 72h (9/11 (82%) vs 5/11 (45%), 7/11 (64%) vs 2/11 (18%) and 2/11 (18%) vs 2/11 (18%), for with catalase vs controls at 24, 48 or 72h respectively). Conclusions These results showed that there was a tendency for improved pregnancy rates at 24 (82% vs 45%) and 48h (64% vs 18%) of cooling in catalase-supplemented media compared with controls. This improvement was not evident at 72h. Implications The ability to keep embryos at 4°C for 24-48h reduces the need for such tight synchronization between donors and recipients.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcription factor-mediated gene regulatory networks in the formation of oocytes.","authors":"Di Wu, Zifan Liang, Ziqi Li, Boyang Zhang, Qiwen Li, Kesong Shi, Shu Fang","doi":"10.1071/RD25054","DOIUrl":"10.1071/RD25054","url":null,"abstract":"<p><p>Context The induction of oocytes from embryonic stem cells (ESCs) in vitro provides a promising tool for the treatment of female infertility. Various molecules are involved in this complex process, which requires further elucidation. Aims This study aims to screen for factors that induce the differentiation of ESCs into oocytes in vitro by constructing transcription factor (TF)-mediated gene regulatory networks (GRNs) during the formation of oocytes. Methods Based on publicly available multi-omics data, the weighted gene co-expression network analysis (WGCNA) method identified oocyte-specific TFs and key oocyte-specific genes. Additionally, chromatin immunoprecipitation (ChIP) sequencing data and ChIP-qPCR analysis were used to examine GRNs mediated by oocyte-specific TFs. Key results First, by analyzing assay for transposase-accessible chromatin sequencing (ATAC-seq) and DNase I hypersensitive site sequencing (DNase-seq) data from human and mouse ESCs, primordial germ cells (PGCs), and oocytes, we identified five and three oocyte-specific TFs, respectively. RNA sequencing and WGCNA further revealed 38 key oocyte-specific genes. Subsequently, when comparing cell-specific TFs in mouse and human oocytes, we identified three overlapping oocyte-specific TFs (NFYA, NFYB, and NFYC). Notably, NFYA exhibited significantly elevated expression levels in oocytes compared to ESCs and PGCs. Additionally, ChIP-qPCR results demonstrated that NFYA was relatively enriched at the promoter region of the key oocyte-specific gene, m6 A demethylase Alkbh5 . Conclusions This study provides preliminary insights into the role of cell-specific TFs and TF-mediated GRNs in oocyte formation by identifying oocyte-specific genes and key oocyte-specific TFs. Implications The findings indicate that their intricate regulatory mechanisms may significantly contribute to enhancing the efficiency of differentiating ESCs into oocytes.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"β-NGF and its receptors are present in ram sperm cells, but β-NGF was undetectable in seminal plasma.","authors":"Javier Meilán, Rodrigo Carrasco, Marcelo Ratto, Rodolfo Ungerfeld","doi":"10.1071/RD25060","DOIUrl":"https://doi.org/10.1071/RD25060","url":null,"abstract":"<p><p>Context In males, the nerve growth factor β (β-NGF), along with its receptors TrkA and p75, is closely related to semen traits and quality in certain species. However, to the best of our knowledge, no study has addressed either the existence of this neurotrophin and its receptors on ram sperm cells or the relationship between β-NGF and semen traits. Aims The aim of this study was to determine the expression of β-NGF and its receptors in spermatozoa and to relate the concentration of β-NGF in seminal plasma to sperm morphology and quality in rams. Methods The expression of β-NGF and its receptors in sperm cells was performed using immunofluorescence, and the concentration of β-NGF in semen was determined by enzyme-linked immunosorbent assay. Key results β-NGF, TrkA and p75 were detected in the spermatozoa of the ram; however, β-NGF was not detectable in the seminal plasma. Conclusions This study provides evidence, for the first time, of the presence of β-NGF and its receptors TrkA and p75, in spermatozoa of rams. However, it was undetectable in seminal plasma collected during the transition from the breeding to the non-breeding season. Detecting and quantifying β-NGF in ram seminal plasma presents several challenges, primarily due to its low concentrations and the techniques employed. Implications These findings indicate that rams, among the males, have β-NGF and its receptors present in sperm cells, making them another candidate species to expand our knowledge of this important protein in mammalian reproduction.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole-exome sequencing reveals a novel mutation in the <i>SUN5</i> gene causing acephalic spermatozoa syndrome.","authors":"Seyedeh-Hanieh Hosseini, Nastaran Salehisedeh, Mahsa Allahgholi, Ali Ahani, Mohammad Ali Sadighi Gilani, Marjan Sabbaghian","doi":"10.1071/RD25058","DOIUrl":"10.1071/RD25058","url":null,"abstract":"<p><p>Context Acephalic spermatozoa syndrome (ASS) is one of the most severe male spermatogenic disorders, featuring a large number of headless spermatozoa in the ejaculate. Although genetic factors play an important role in spermatogenesis, only a few genes are correlated with sperm defects and male infertility. Studies have revealed that genetic mutations are the main causes of ASS. Therefore, finding new genes that lead to ASS is significant in choosing the correct treatment methods and genetic counseling for these patients.p Aims This study aimed to identify the genetic causes of ASS in two infertile brothers whose parents are first cousins. Methods Whole-exome sequencing (WES) was performed using peripheral blood genomic DNA. PCR reactions, Sanger sequencing, and immunocytochemistry were performed to confirm the results of WES. Key results We identified a novel homozygous mutation in the SUN5 gene (NM_080675: exon11: c.879dupc: p.k), and Sanger sequencing confirmed our finding. There was no signal of SUN5-antibody in the protein assessment of the spermatozoa from our patient. We conducted two intracytoplasmic sperm injections (ICSI) cycles for the proband, however, the treatment did not result in his partner achieving pregnancy. Conclusions Our findings suggest that the novel mutation of the SUN5 gene is responsible for ASS. Implications These results highlight the diagnostic value of identifying SUN5 mutations in in patients with ASS. The current findings contribute to a better understanding of the genetic basis of ASS and can inform future clinical decisions as more data become available.</p>","PeriodicalId":516117,"journal":{"name":"Reproduction, fertility, and development","volume":"37 ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}