Journal of Assisted Reproduction and Genetics最新文献

{"title":"miR-361-5p regulates SLC25A24 to maintain mitochondrial function and alleviate granulosa cell dysfunction in diminished ovarian reserve.","authors":"Jinyuan Xu, Yan Jia","doi":"10.1007/s10815-024-03349-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03349-6","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to investigate the role of miR-361-5p (a tumor suppressor) in regulating granulosa cell function by targeting SLC25A24, a key mitochondrial protein, to uncover potential therapeutic targets for diminished ovarian reserve (DOR).</p><p><strong>Methods: </strong>This study included patients undergoing assisted reproductive technology treatment at our hospital. Granulosa cells were isolated from follicular fluid, and KGN cells were used for in vitro experiments. miR-361-5p and SLC25A24 expression levels were manipulated using miRNA mimics and inhibitors, and their effects on cell viability, apoptosis, and mitochondrial function were assessed. Techniques employed included qRT-PCR, Western blot analysis, ELISA, JC-1 staining, and dual-luciferase reporter assays. Key quantitative metrics included changes in mitochondrial DNA (mtDNA), ATP production, and reactive oxygen species (ROS) levels.</p><p><strong>Results: </strong>miR-361-5p expression was significantly lower in DOR patients' granulosa cells compared to controls (P < 0.01). miR-361-5p inhibition markedly decreased KGN cells viability and increased apoptosis (P < 0.01), while miR-361-5p overexpression had the opposite effects (P < 0.01). SLC25A24 expression was inversely correlated with miR-361-5p levels, and its knockdown reversed the effects of miR-361-5p inhibition. Additionally, miR-361-5p modulation significantly affected mitochondrial function, with its overexpression reducing ROS levels and increasing ATP production (P < 0.01).</p><p><strong>Conclusion: </strong>miR-361-5p plays a pivotal role in maintaining mitochondrial function and reducing KGN cells dysfunction by targeting SLC25A24. These findings offer new insights into the molecular mechanisms of DOR and highlight miR-361-5p as a potential therapeutic target to enhance ovarian reserve and improve fertility outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983559","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":"Predicting factors of ovarian responses in infertile women with polycystic ovary syndrome undergoing IVF/ICSI.","authors":"Qiaoling Wang, Jingwen Lang, Yunqing Zhi, Xiuxian Zhu, Yonglun Fu","doi":"10.1007/s10815-024-03386-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03386-1","url":null,"abstract":"<p><strong>Purpose: </strong>Women with polycystic ovary syndrome (PCOS) show greater heterogeneity in ovarian responses during ovarian stimulation. We aimed to investigate the potential predicting factors among individualized basic parameters that affect poor or hyper ovarian responses in PCOS patients.</p><p><strong>Methods: </strong>We retrospectively screened 2058 women with PCOS who underwent their first cycle of in vitro fertilization/intracytoplasmic sperm injection. Spearman correlation analysis and multivariable linear regression model were applied to screen potential variables impacting the number of oocyte retrieved. Further, women with PCOS were divided into poor, sub-optimal, optimal, and hyper responders based on oocyte-retrieved numbers. Logistic regression model and receiver operating characteristic (ROC) curve were used to testify the predicting effect of screened parameters on ovarian response.</p><p><strong>Results: </strong>Multivariable linear regression showed that body mass index (BMI) and follicle-stimulating hormone (FSH) were significantly negatively correlated with oocyte numbers, while luteinizing hormone and anti-Müllerian hormone (AMH) showed a positive correlation. Logistic regression model showed that high BMI (RR: 1.141, 95% CI: 1.090, 1.195) and FSH (RR: 1.161, 95% CI: 1.043, 1.293) were risk factors for poor and sub-optimal ovarian response, but not for hyper response. High AMH level was a risk factor (RR: 1.118, 95% CI: 1.075, 1.163) for hyper ovarian response. The optimal cutoff value was BMI = 23.25 kg/cm², FSH = 6.375 IU/L, and AMH = 9.8 ng/mL, respectively.</p><p><strong>Conclusions: </strong>Individualized basic parameters including BMI, FSH, and AMH are crucial for predicting ovarian response of women with PCOS, providing valuable information for formulating personalized diagnosis and treatment plans.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978558","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":"Copper homeostasis and pregnancy complications: a comprehensive review.","authors":"Tongyu Peng, Chenglin Liu, Yuanmin Qian","doi":"10.1007/s10815-024-03375-4","DOIUrl":"https://doi.org/10.1007/s10815-024-03375-4","url":null,"abstract":"<p><p>Pregnancy complications pose challenges for both pregnant women and obstetricians globally, with the pathogenesis of many remaining poorly understood. Recently coined as a mode of cell death, cuproptosis has been proposed but remains largely unexplored. This process involves copper overload, resulting in the accumulation of fatty acylated proteins and subsequent loss of iron-sulfur cluster proteins. This cascade induces proteotoxic stress, leading to cell death. In recent years, studies have indicated a connection between abnormal copper metabolism and several pregnancy-related diseases, including maternal placental dysplasia, gestational diabetes mellitus (GDM), gestational hypertension (PIH), preterm birth or abortion, as well as conditions in offspring such as intrauterine growth restriction (IUGR), allergic disease, Menkes disease, and Wilson's disease. Investigating the mechanism of cuproptosis and abnormal copper metabolism in these pregnancy-related diseases emerges as a critical research area. This article provides a concise review of cuproptosis mechanisms and emphasizes the association between abnormal copper metabolism and pregnancy-related diseases. Nevertheless, the doubtful viewpoints were also discussed.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949588","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":"Oocyte maturation defect in women undergoing IVF: contributing factors and effects on mature sibling oocyte outcomes.","authors":"Marga Esbert, Andrés Reig, Agustín Ballestros, Emre Seli","doi":"10.1007/s10815-024-03353-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03353-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to identify demographic and clinical factors associated with low maturation rates and to investigate if the rate of immature oocytes impacts the outcomes of mature sibling oocytes.</p><p><strong>Methods: </strong>Women undergoing their first IVF-ICSI cycle between 2018 and 2022 at a fertility clinic were included. Cycles were classified into five groups according to the proportion of Metaphase II stage oocytes (MII): Null (0% MII, n = 46), Poor (1-25% MII, n = 44), Low (26-50% MII, n = 453), Acceptable (51-75% MII, n = 1641), and Optimal (76-100% MII, n = 2642). Demographic characteristics and clinical outcomes were compared between the five groups. In patients with a Null/Poor maturation rate, subsequent cycle outcomes were also evaluated.</p><p><strong>Results: </strong>A total of 4826 cycles were included in the study; 69,909 oocytes were recovered, and 53,065 were MIIs (75.9%). The Null group was older, had lower levels of anti-Müllerian hormone (AMH), needed more gonadotropins and days of stimulation, had higher follicle stimulating hormone (FSH) levels on day 3, and had less follicles > 15 mm on the day of trigger. When the outcomes of mature oocytes were compared, fertilization, usable blastocyst, aneuploidy, and life birth rates were comparable among groups. A binary logistic regression model using number of oocytes, paternal age, and trigger type with live birth rate endpoint found no differences between the categories and the base line Poor category. When patients whose maturation rate was Null/Poor, 42 (47.0%) carried out a second cycle; the maturation rate increased (56.9 ± 31.5 vs. 11.6 ± 11.2%, P < 0.0001).</p><p><strong>Conclusion: </strong>Our data suggest that poor responders are more likely to have low rates of oocyte maturation. The proportion of immature oocytes does not impact the outcomes of mature sibling oocytes. In patients with Null/Poor maturation in their first cycle, the subsequent cycle is often associated with improved maturation rates.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949594","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 perception of artificial intelligence and infertility care among patients undergoing fertility treatment.","authors":"Sarah C Cromack, Ashley M Lew, Sarah E Bazzetta, Shuai Xu, Jessica R Walter","doi":"10.1007/s10815-024-03382-5","DOIUrl":"https://doi.org/10.1007/s10815-024-03382-5","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize the opinions of patients undergoing infertility treatment on the use of artificial intelligence (AI) in their care.</p><p><strong>Methods: </strong>Patients planning or undergoing in vitro fertilization (IVF) or frozen embryo transfers were invited to complete an anonymous electronic survey from April to June 2024. The survey collected demographics, technological affinity, general perception of AI, and its applications to fertility care. Patient-reported trust of AI compared to a physician for fertility care (e.g. gamete selection, gonadotropin doing, and stimulation length) were analyzed. Descriptive statistics were calculated, and subgroup analyses by age, occupation, and parity were performed. Chi-squared tests were used to compare categorical variables.</p><p><strong>Results: </strong>A total of 200 patients completed the survey and were primarily female (n = 193/200) and of reproductive age (mean 37 years). Patients were well educated with high technological affinity. Respondents were familiar with AI (93%) and generally supported its use in medicine (55%), but fewer trusted AI-informed reproductive care (46%). More patients disagreed (37%) that AI should be used to determine gonadotropin dose or stimulation length compared to embryo selection (26.5%; p = 0.01). In the setting of disagreement between physician and AI recommendation, patients preferred the physician-based recommendation in all treatment-related decisions. However, a larger proportion favored AI recommendations for gamete (22%) and embryo (14.5%) selection, compared to gonadotropin dosing (6.5%) or stimulation length (7.0%). Most would not be willing to pay more for AI-informed fertility care.</p><p><strong>Conclusions: </strong>In this highly educated infertile population familiar with AI, patients still prefer physician-based recommendations compared with AI.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949596","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 influence of seminal microbiota on human testicular steroidogenesis: a prospective study.","authors":"Rossella Cannarella, Roberto Curto, Rosita A Condorelli, Agata Grillo, Antonio Aversa, Aldo E Calogero, Sandro La Vignera","doi":"10.1007/s10815-024-03351-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03351-y","url":null,"abstract":"<p><strong>Objective: </strong>Preclinical evidence has demonstrated that gut microbiota composition can influence steroid hormone biosynthesis and spermatogenesis. This study aims to investigate the association of seminal microbiota and testicular steroidogenesis.</p><p><strong>Patients and methods: </strong>One hundred adult eugonadal men were consecutively enrolled. The seminal concentration of Lactobacilli, anaerobic and facultative bacteria, as well as serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and total testosterone (TT) were evaluated. Unadjusted and adjusted multi-regression models were built to evaluate the relationship between seminal Lactobacilli, anaerobic and facultative bacteria, and Lactobacilli/total bacteria ratio, and serum LH, FSH, and TT. The concentrations of seminal Lactobacilli, anaerobic, and facultative bacteria predictive of serum TT values in the lowest quartile (< 3.8 ng/mL) were calculated.</p><p><strong>Results: </strong>TT levels were weakly and positively correlated with seminal Lactobacillus concentration (r = 0.33; p = 0.001), with seminal Lactobacilli/total bacteria ratio (r = 0.89; p < 0.001), and negatively with anaerobic and facultative bacteria (r = - 0.69; p < 0.001). Opposite correlations were found for gonadotropin concentrations. These data persisted after adjustment for confounding factors. Seminal concentration of Lactobacilli ≤ 0.1 × 10⁶/mL (AUC 0.917, 95% CI: 0.845 to 0.963), of anaerobic and facultative bacteria > 2 × 10⁴/mL (AUC 0.924, 95% CI: 0.853 to 0.967), or a Lactobacilli/total bacteria ratio ≤ 90% (AUC 0.910, 95% CI: 0.837 to 0.958) were found to predict serum TT level < 3.8 ng/mL with a sensitivity of 92.0% and a specificity of 88.0%.</p><p><strong>Conclusion: </strong>A relationship between the composition of the seminal microbiota and testicular steroidogenesis seems to exist. The mechanisms underlying this association are still unknown.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949595","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 impact of spillover and crossover effects of job stressors on pregnancy rates in couples undergoing in vitro fertilization treatments.","authors":"Keren Turgeman Lupo, Ya'arit Bokek-Cohen, Netanella Miller, Einat Haikin Herzberger, Amir Wiser","doi":"10.1007/s10815-024-03373-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03373-6","url":null,"abstract":"<p><strong>Purpose: </strong>Studies have shown mixed findings regarding the impact of stress on the success of fertility treatments. To the best of our knowledge, stress in the context of the workplace has not been investigated to date in relation to the success of fertility treatments. This research investigates the impact of work-related stress and emotional exhaustion experienced by both partners on in vitro fertilization (IVF) treatment outcomes.</p><p><strong>Methods: </strong>We conducted a cross-sectional study that included 44 heterosexual couples (N = 88) in which both partners filled out the research questionnaire. The couples were recruited in a hospital IVF unit in the center of Israel.</p><p><strong>Results: </strong>Women's job-related stress and emotional exhaustion lowered their chances of achieving pregnancy when undergoing IVF treatments. Moreover, when partners' emotional exhaustion was relatively low, the job-related stress of women did not affect pregnancy outcomes.</p><p><strong>Conclusion: </strong>This is the first study to explore whether job-related stressors of both partners may have an impact on success rates of IVF treatments. We propose some practical implications as to how to eradicate their negative impact on IVF outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926775","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 variants of FSIP2 and SPEF2 cause varying degrees of spermatozoa damage in MMAF patients and favorable ART outcomes.","authors":"Cong-Ling Dai, Xin-Yu Yin, Zi-Yan Peng, Hao Lin, Pan Zhang, Gang Liu, Wei-Na Li","doi":"10.1007/s10815-024-03378-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03378-1","url":null,"abstract":"<p><strong>Purpose: </strong>This study identified novel variants of the FSIP2 and SPEF2 genes in multiple morphological abnormalities of the sperm flagella (MMAF) patients and to investigate the potential effect of variations on male infertility and assisted reproductive outcomes.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed in 106 Chinese MMAF patients. The discovered variants were evaluated in silico and confirmed by Sanger sequencing. A mini-gene assay and immunofluorescence staining were used to determine the effects on mRNA and protein. Assisted reproductive technology (ART) based on intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) was used for MMAF patients carrying novel variants.</p><p><strong>Results: </strong>Biallelic variants in FSIP2 or SPEF2 involving nineteen novel variations were found in eleven MMAF patients. These variations included fourteen missense variants, two nonsense variants, two frameshift variants, and a splicing variant. The FSIP2 protein was markedly reduced or mislocalized to the spermatozoa head. Two novel missense variants of SPEF2 reduced cell diameter. Eleven MMAF couples had 12 ICSI cycles and 2 IVF cycles. The 2PN fertilization rate, good-quality embryos rate, and clinical pregnancy rate were 80.1% (133/166), 74.4% (99/133), and 45.7% (16/35). Four of them have seven babies born.</p><p><strong>Conclusion: </strong>Our work revealed that missense variations of FSIP2 or SPEF2 might cause a milder spermatozoa damage. The infertility caused by FSIP2 and SPEF2 variants can be mitigated through ICSI or even IVF. The results of this study presented signs of the correlation of phenotype/genotype for the FSIP2 and SPEF2, which might provide a reference for clinical genetic and fertility consultation.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926754","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":"Aneuploidy-driven gene expression profiling in human blastocysts: insights from RNA-Seq analysis.","authors":"Masood Bazrgar, Fattaneh Khajehoseini, Poopak Eftekhari-Yazdi, Mohammad Reza Bakhtiarizadeh, Hamid Gourabi, Parishad Saei, Reza Pazhoomand, Shirzad Hosseinishenatal, Reza Mohammadi","doi":"10.1007/s10815-024-03369-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03369-2","url":null,"abstract":"<p><strong>Purpose: </strong>Preimplantation aneuploidy in humans is one of the primary causes of implantation failure and embryo miscarriage. This study was conducted to gain insight into gene expression changes that may result from aneuploidy in blastocysts through RNA-Seq analysis.</p><p><strong>Methods: </strong>The surplus embryos of preimplantation genetic testing for aneuploidy (PGT-A) candidate couples with normal karyotype and maternal age < 38 were collected following identical ovarian stimulation protocol. The embryos were selected based on trophectoderm biopsy and array comparative genomic hybridization in three groups: normal group, small chromosomes aneuploidy group (SCA), including single aneuploidy for small chromosomes 16, 20, 21, 22, and other chromosomes aneuploidy group (OCA), including single aneuploidy for other chromosomes.</p><p><strong>Results: </strong>Principal component analysis revealed overall differentiation of transcriptome of the groups, confirming embryo classification. The Gene Ontology indicated that transcription, ubiquitination, autophagy, and DNA repair pathways were upregulated in aneuploid embryos. The overexpression of five genes, UBE2E2 and VPS4A, BUB1B, CDCA8, and COX14 was confirmed by quantitative real-time PCR. Additionally, overexpression was observed in translation and protein synthesis pathways in aneuploid embryos. Mitochondrial pathway upregulation was notable in both SCA and OCA groups, while the apoptosis pathway was overexpressed only in the OCA group. Only cellular lipid synthesis pathway differed between SCA and OCA, the two aneuploid groups.</p><p><strong>Conclusions: </strong>This study highlights the impact of aneuploidy on the gene expression in blastocysts independent of aneuploidy type and paves the way for understanding the molecular mechanisms underlying the generation of aneuploidy.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927418","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":"Phenotypic impact of CFTR mutations on male reproductive tract agenesis in a Chinese cohort with congenital absence of the vas deferens.","authors":"Jingping Li, Lejun Li, Fengbin Zhang, Yingming Zheng, Weikang Chen, Fan Jin","doi":"10.1007/s10815-024-03333-0","DOIUrl":"10.1007/s10815-024-03333-0","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the genotype-phenotype correlations of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and their impact on male reproductive tract development in a cohort of Chinese patients with congenital absence of the vas deferens (CAVD).</p><p><strong>Methods: </strong>A total of 121 Chinese CAVD patients underwent genetic testing for CFTR and ADGRG2 mutations, semen analysis, scrotal and transrectal ultrasound examinations, and reproductive hormone measurements. The genotype-phenotype correlations were analyzed, focusing on the impact of CFTR variants on the presence or absence of the epididymis, vas deferens, seminal vesicles, and other related structures.</p><p><strong>Results: </strong>CFTR mutations were identified in 72.7% (88/121) of CAVD patients, with the IVS9-5 T variant being the most prevalent (54.5%, 66/121). Six novel CFTR variants (CFTR: L218Ffs*15, V1007Ffs*40, V938M, A566V, S605P, H949P) were identified in Chinese men. Patients with CFTR homozygous IVS9-5 T variants had a significantly lower rate of epididymal absence compared to those with one 5 T and one non-5 T variant or two non-5 T variants (p = 0.016). Notably, patients carrying at least one non-5 T variant were associated with an 8.17-fold increased risk of epididymal partial absence compared to those having the homozygous 5 T mutation (95% confidence interval 1.52-59.58, p = 0.009).</p><p><strong>Conclusion: </strong>This study provides novel insights into the genotype-phenotype correlations of CFTR variants in Chinese CAVD patients, highlighting the differential impact of 5 T and non-5 T variants on male reproductive tract development. These findings provide additional information that may be helpful for genetic counseling, clinical management, and the development of personalized diagnostic and therapeutic strategies for CAVD patients.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"285-292"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142728950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}