Andrology最新文献

{"title":"A homozygous nonsense variant in HENMT1 causes male infertility in humans and mice.","authors":"Ming Li, Tanveer Abbas, Yue Wang, Aoran Zhi, Jianteng Zhou, Ao Ma, Ghulam Murtaza, Yufan Wu, Wasim Shah, Muhammad Zubair, Muzammil Ahmad Khan, Furhan Iqbal, Xiaohua Jiang, Huan Zhang, Qinghua Shi","doi":"10.1111/andr.13767","DOIUrl":"https://doi.org/10.1111/andr.13767","url":null,"abstract":"<p><strong>Background: </strong>HENMT1 encodes a small RNA methyltransferase that plays a crucial role in mouse spermatogenesis through the methylation of the 3' end of PIWI-interacting RNAs.</p><p><strong>Objectives: </strong>Our study aims to elucidate the relationship between HENMT1 and male infertility in humans.</p><p><strong>Materials and methods: </strong>A consanguineous family, having a single non-obstructive azoospermia patient was recruited for pathogenic variants screening. The research includes genetic analysis and experimental validation using mouse models. The patient was diagnosed with non-obstructive azoospermia. Whole-exome sequencing and subsequent bioinformatic analyses were performed to screen for candidate pathogenic variants. The pathogenicity of the identified variant was assessed and studied in vivo using a mouse model that mimicked the patient's mutation.</p><p><strong>Results: </strong>Through whole-exome sequencing, we identified a homozygous nonsense variant (c.555G > A, p.Trp185*) in HENMT1 in the patient. The presence of the mutant HENMT1 mRNA was detected in the patient's blood, and the truncated HENMT1 protein was observed in transfected HEK293T cells. The mutant mice modeling this HENMT1 variant displayed an infertile phenotype similar to that of the patient, characterized by spermiogenesis arrest. Further analysis revealed a significant derepression of retrotransposon LINE1 in the testes of the Henmt1 mutant mice, and increased apoptosis of spermatids.</p><p><strong>Discussion and conclusion: </strong>Our findings provide the evidence of pathogenicity of the identified HENMT1 variant, thus shedding light on the indispensable role of HENMT1 in human spermatogenesis.</p>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From spermatogonia to spermatozoa: Filling gaps in andrology at the 16th Network of Young Researchers in Andrology meeting","authors":"Emily Delgouffe, Juan Manuel Paturlanne, Andjela Kovacevic, Isidora Keselj, Omar Ammar, Avinash S. Gaikwad, Gülizar Saritas, Dorte Egeberg, Daniel Marcu, Alberto de la Iglesia","doi":"10.1111/andr.13763","DOIUrl":"https://doi.org/10.1111/andr.13763","url":null,"abstract":"The 16th Network of Young Researchers in Andrology meeting, hosted at the Sleepwell Hostel in Brussels, Belgium, was the first Network of Young Researchers in Andrology meeting as the young arm of the European Academy of Andrology. Over three days, this vibrant event provided a valuable platform for early-career researchers in andrology to present and discuss their research. With 41 attendees from 12 different countries, the meeting featured a diverse scientific program including keynote lectures from six world-leading experts, covering a broad range of topics in andrology. The 16th Network of Young Researchers in Andrology meeting showcased advancements in fertility preservation, single-cell applications, in vitro testis modeling, and epigenetics. Networking opportunities were a key highlight, featuring a scientific speed-dating session and a networking dinner designed to foster meaningful connections and collaborations among participants. The meeting concluded with a workshop on the science of sleep, offering attendees practical strategies to enhance their rest and well-being. Overall, the 16th Network of Young Researchers in Andrology meeting significantly advanced the audience's knowledge, strengthened the network of young researchers, and underlined Network of Young Researchers in Andrology's commitment to supporting and collaborating with emerging scientists in the andrology community.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"29 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Male contraceptive acceptability versus male acceptance of contraceptive responsibility","authors":"Brian T. Nguyen","doi":"10.1111/andr.13719","DOIUrl":"10.1111/andr.13719","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Despite the projected impact of new male contraceptives, resources and investments directed at their development remain limited in part due to concerns that men would not actually use them. Now, more than 30 studies have been conducted over the last 30 years—regionally and internationally, within clinical trials, and across populations—examining men and women's attitudes towards new male contraceptive methods, all consistently demonstrating interest in and willingness to use new methods. Yet even these studies, inclusive of competitive contraceptive market projections, seem not to be convincing enough.</p>\u0000 \u0000 <p>Rather than study whether men would be willing to use male contraceptives, more resources should be devoted to developing the infrastructure and supporting the cultural changes needed to ensure that when new male contraceptives inevitably emerge, that they will be disseminated quickly and made readily accessible.</p>\u0000 \u0000 <p>Men's views on what their roles are in society, families, relationships, and pregnancy prevention are changing in ways that may impact what they consider to be acceptable contraceptive risks. As society moves toward more gender equitable beliefs, men's positive involvement in contraception might organically develop into an expected behavior. Interventions aimed at sensitizing men toward gender equitable beliefs may pay dividends in improving male contraceptive acceptability.</p>\u0000 \u0000 <p>The current lack of a reversible male contraceptive method prevents us from collecting data that might disprove presumptions that men would be unwilling to take on responsibility for pregnancy prevention. However, studies of men's involvement in (1) over-the-counter emergency contraception, (2) vasectomy, and (3) abortion offer case studies for men's increasing consciousness of opportunities for shared contraceptive responsibility, the structural and sociopolitical barriers that men face when trying to participate in family planning, and how these might translate into new male contraceptive interest and development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"12 7","pages":"1585-1589"},"PeriodicalIF":3.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/andr.13719","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252703","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":"Relevance, strategies, and added value of mouse models in androgenetics","authors":"Vertika Singh, John C. Schimenti","doi":"10.1111/andr.13761","DOIUrl":"https://doi.org/10.1111/andr.13761","url":null,"abstract":"Male Infertility is a prevalent condition worldwide, and a substantial fraction of cases are thought to have a genetic basis. Investigations into the responsible genes is limited experimentally, so mice have been used extensively to identify genes required for fertility and to understand their functions.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"15 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utility of exome sequencing in primary spermatogenic disorders: From research to diagnostics","authors":"Antoni Riera-Escamilla, Liina Nagirnaja","doi":"10.1111/andr.13753","DOIUrl":"https://doi.org/10.1111/andr.13753","url":null,"abstract":"Primary spermatogenic disorders represent a severe form of male infertility whereby sperm production is impaired due to testicular dysfunction, leading to reduced quality or quantity of spermatozoa. Gene-centered research has certainly demonstrated the importance of the genetic factor in the etiology of both poor sperm morphology or motility and reduced sperm count. In the last decade, next-generation sequencing has expanded the research to whole exome which has transformed our understanding of male infertility genetics, but uncertainty persists in its diagnostic yield, especially in large unrelated populations.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"209 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can the male germline offer insight into mammalian brain size expansion?","authors":"Stephen J. Bush, Anne Goriely","doi":"10.1111/andr.13766","DOIUrl":"https://doi.org/10.1111/andr.13766","url":null,"abstract":"<jats:label/>Recent advances in single‐cell transcriptomic data have greatly expanded our understanding of both spermatogenesis and the molecular mechanisms of male infertility. However, this growing wealth of data could also shed light on a seemingly unrelated biological problem: the genetic basis of mammalian brain size expansion throughout evolution. It is now increasingly recognized that the testis and brain share many cellular and molecular similarities including pivotal roles for the RAS/MAPK and PI3K/AKT/mTOR pathways, mutations in which are known to have a pronounced impact on cell proliferation. Most notably, in the stem cell lineages of both organs, new mutations have been shown to increase cellular output over time. These include ‘selfish’ mutations in spermatogonial stem cells, which disproportionately increase the proportion of mutant sperm, and—to draw a parallel—human‐specific mutations in neural stem cells which, by increasing the number of neurons, have been implicated in neocortical expansion. Here we speculate that the origin for many ‘expansion’‐associated mutations is the male germline and that as such, a deeper understanding of the mechanisms controlling testicular turnover may yield fresh insight into the biology and evolution of the brain.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"20 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142268780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Israeli men's attitudes toward posthumous reproduction and prior consent amid ongoing armed conflict","authors":"Bella Savitsky, Talia Eldar‐Geva, Rachel Shvartsur","doi":"10.1111/andr.13757","DOIUrl":"https://doi.org/10.1111/andr.13757","url":null,"abstract":"BackgroundFrom October 7, 2023, until August 28, 2024, 187 posthumous sperm retrieval (PSR) procedures have been conducted on deceased men, 171 of whom are soldiers. PSR was predominantly initiated by parents to cope with their profound loss. However, the attitudes of Israeli men toward this procedure are unknown.ObjectiveThis study aims to investigate the attitudes of Israeli men toward prior consent to PSR and posthumous‐assisted reproduction (PAR) initiated by partner or parents.MethodsA cross‐sectional study of 600 Israeli men aged 18–49 years who were questioned in February–April 2024 amid the ongoing armed conflict. The questionnaire included demographic details, role in the conflict, and attitudes toward PSR/PAR. Multivariable logistic regression analysis was used to assess agreement for PSR/PAR after adjustment for possible confounders.ResultsThe average age of participants was 32 years, with 52% married or in a committed relationship and 6.5% self‐identified as having same‐sex relationships. The majority were secular (63%), 21% were traditional (21%), and 16% were religious. In terms of involvement in the ongoing conflict, 35% served in combat, 21% in non‐combat roles, and 44% did not participate. Most men (71%) prefer pre‐documenting their PSR preferences, with 70% advocating for consent during recruitment for regular military service and 78% before reserve service. Regarding PAR, 37% opposed it at their partner's request, while 47% opposed it at their parents’ request. In a multivariable model, the odds of approval of PAR following parental request were four‐ and three‐fold higher among traditional and secular versus religious men (odds ratio, OR = 4.1, 95% CI: 2.0–8.1 and OR = 3.3, 95% CI: 1.8–6.2, respectively) and following the request of a partner, twice higher among traditional and secular versus religious (OR = 2.0, 95% CI: 1.1–4.2 and OR = 2.0, 95% CI: 1.1–3.6, respectively).ConclusionWhile it is understandable that grieving parents seek solace through PSR, consent should be obtained from the men themselves, as a considerable proportion do not support the process as it is currently performed.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"14 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genital gender‐affirming surgery trends in Germany: Total population data with 19,600 cases from 2006 to 2022","authors":"Cem Aksoy, Sascha Wellenbrock, Philipp Reimold, Philipp Karschuck, Mahmut Ozturk, Tobias Hirsch, Michael Sohn, Nicole Eisenmenger, Sabine Kliesch, Saskia Morgenstern, Aristeidis Zacharis, Johannes Huber, Luka Flegar","doi":"10.1111/andr.13762","DOIUrl":"https://doi.org/10.1111/andr.13762","url":null,"abstract":"PurposeTo delineate the current trends regarding gender‐affirming surgeries (GAS) in Germany.MethodsAnalysis of German hospital quality reports from 2006 to 2022 was conducted using the reimbursement.info tool. The German procedure classification (OPS) codes 5‐646.0 for masculinizing‐ and 5‐646.1 for feminizing surgery were assessed to identify GAS. Linear regression models were utilized for the analysis and depiction of current trends.ResultsA total of 19,632 gender‐affirming procedures were performed during the study period with an exponential increase over the years. Masculinizing surgeries increased from 246 in 2006 to 1291 cases in 2022 (increase by 424%; <jats:italic>p</jats:italic> &lt; 0.001). The highest annual increase of 37.2% in numbers was from 2018 to 2019 (from 1235 to 1694 cases). Feminizing surgeries increased from 180 cases in 2006 to 799 procedures in 2022 (increase by 343%; <jats:italic>p</jats:italic> &lt; 0.001). The cases increased most between 2015 and 2016 from 277 to 502 cases (81.2%). The number of hospitals offering these surgeries expanded from 24 in 2006 to 29 in 2022 (21% increase; <jats:italic>p</jats:italic> &lt; 0.001).ConclusionThis study demonstrates an exponential growth in numbers feminizing and masculinizing of GAS performed each year in Germany. Furthermore, a discernible trend emerges with a propensity for concentration of procedures within selected high‐caseload centers across Germany.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"106 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142268781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep learning classification method for boar sperm morphology analysis","authors":"Alexandra Keller, McKenna Maus, Emma Keller, Karl Kerns","doi":"10.1111/andr.13758","DOIUrl":"https://doi.org/10.1111/andr.13758","url":null,"abstract":"BackgroundBoar semen quality emphasizes three major criteria: sperm concentration, motility, and morphology. Methods to analyze concentration and motility quickly and objectively readily exist, but few exist for analyzing morphology outside of subjective manual counting. Other vital factors for fertilization, like acrosome health, lack efficient detection methods due to limitations in detection by the human eye and costly biomarker analysis, which is rarely used in semen diagnostics.ObjectiveTo overcome these challenges, we propose a novel approach integrating deep‐learning technology with high‐throughput image‐based flow cytometry (IBFC) for objective and accurate analysis of both morphology and label‐free acrosome health of thousands of individual spermatozoa at once, as opposed to manually counting on a microscope slide.Materials and methodsImages of 10,000 spermatozoa were captured using an IBFC and manually annotated based on the primary morphological defect or acrosome health status for the training of the convolutional neural network (CNN). The CNN used these images to train and then applied that training to unannotated images to predict the model accuracy.ResultsUsing the CNNs, high F1 scores of 96.73%, 98.55%, and 99.31% for 20x, 40x, and 60x magnifications, respectively, for morphological classification were attained. Additionally, the model demonstrates an F1 score of 99.8% in detecting subtle acrosome health variations at the 60x magnification.Discussion and conclusionsWe have established an integrated approach to rapidly collect and classify morphological defects and acrosome health status, without the use of manual counting or biomarker labeling. Our study underscores the potential of artificial intelligence in semen diagnostics, reducing technician variability, streamlining assays, and facilitating the development of additional label‐free detection methods. This innovative approach addresses the barriers hindering biomarker adoption in semen analysis, offering a promising avenue for enhancing reproductive health assessments.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"37 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of chronic periodontitis on the endothelial glycocalyx of rat penile corpus cavernosum","authors":"Yuanhang Xia, Yang Zeng, Rui Jiang","doi":"10.1111/andr.13765","DOIUrl":"https://doi.org/10.1111/andr.13765","url":null,"abstract":"BackgroundChronic periodontitis may induce erectile dysfunction (ED), however, the specific mechanism involved is unclear. The endothelial glycocalyx (eGlx) is a structure that can regulate endothelial nitric oxide synthase (eNOS) phosphorylation on the cavity surface of vessels.AimTo investigate whether chronic periodontitis leads to ED by affecting the eGlx.MethodsTwenty‐four 4‐week‐old male Sprague‒Dawley rats were randomly divided into four groups (<jats:italic>n</jats:italic> = 6): the control group, chronic periodontitis group, chronic periodontitis + heparin group (subcutaneous heparin 200 U/kg/day, 7 days), and control + heparin group. Four weeks after the induction of periodontitis in the rats, the maximum intra‐cavernous pressure/mean arterial pressure (ICPmax/MAP), serum C‐reactive protein (CRP), tumor necrosis factor alpha (TNF‐α), interleukin‐6 (IL‐6), nitric oxide (NO), heparin sulfate (HS), syndecan‐1 (SDC‐1), heparanase (HPSE), eNOS, and phosphor‐eNOS (p‐eNOS) concentration were measured, and the eGlx of the penile corpus cavernosum was observed by transmission electron microscopy (TEM).OutcomesChronic periodontitis can degrade eGlx on the rat penile corpus cavernosum by increasing serum CRP, TNF‐α, and IL‐6 levels, reducing the p‐eNOS/eNOS ratio and the NO concentration in the penile corpus cavernosum, and resulting in the inhibition of the erectile function.ResultsSerum CRP, TNF‐α, and IL‐6 levels and HPSE expression in penile cavernous tissue were significantly greater in the chronic periodontitis group than in the control group and the chronic periodontitis + heparin group (<jats:italic>P</jats:italic> &lt; 0.05). The average thickness of the eGlx muscle in the penile corpus cavernosum in the chronic periodontitis group was significantly lower than those in the control group and chronic periodontitis + heparin group (<jats:italic>P</jats:italic> &lt; 0.05). The HS concentration, SDC‐1 expression, p‐eNOS/eNOS, NO concentration, and ICPmax/MAP in the chronic periodontitis group were significantly lower than those in the control group and chronic periodontitis+ heparin group (<jats:italic>P</jats:italic> &lt; 0.01).Clinical implicationsThe eGlx on penile cavernosum vessels may be a new therapeutic target for the treatment of ED.Strengths and limitationsThis study revealed that chronic periodontitis promotes the decomposition of vascular eGlx in the rat penile corpus cavernosum, however, it is not clear whether chronic periodontitis inhibits the synthesis of eGlx.ConclusionChronic periodontitis can degrade eGlx on the rat penile corpus cavernosum by increasing serum CRP, TNF‐α, and IL‐6 levels, reducing the p‐eNOS/eNOS ratio and the NO concentration in penile cavernous tissue, and resulting in the inhibition of the erectile function. Heparin inhibited eGlx decomposition and improved erectile function in rats with chronic periodontitis.","PeriodicalId":7898,"journal":{"name":"Andrology","volume":"42 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}