Basic and Clinical Andrology最新文献

{"title":"Evolution of guideline-based male infertility responses by large language models between 2025 and 2026: a comparative analysis of ChatGPT, Perplexity, and DeepSeek.","authors":"Burak Elmaağaç, Ali Yasin Özercan, Murat Demir, Murat Gül","doi":"10.1186/s12610-026-00327-z","DOIUrl":"10.1186/s12610-026-00327-z","url":null,"abstract":"<p><p>RéSUMé: CONTEXTE: Les grands modèles de langage (LLM) sont de plus en plus utilisés par les patients et les cliniciens pour obtenir des informations médicales, mais leurs performances peuvent évoluer au fil du temps à mesure que les modèles sont mis à jour. L'infertilité masculine est un domaine étroitement encadré par des recommandations, dans lequel des informations inexactes ou incomplètes peuvent influer sur l'évaluation diagnostique, le conseil aux patients et les attentes thérapeutiques. Cette étude a évalué l'évolution, entre 2025 et 2026, des performances de ChatGPT, Perplexity et DeepSeek dans leurs réponses à des questions sur l'infertilité masculine élaborées à partir de recommandations cliniques. RéSULTATS: Au total, 528 réponses de chatbots ont été évaluées à partir de 88 questions sur l'infertilité masculine issues des recommandations de l'Association européenne d'urologie (EAU), auxquelles ChatGPT, Perplexity et DeepSeek ont répondu en 2025 et en 2026. En 2025, des différences significatives entre les modèles ont été observées dans les quatre domaines évalués: Perplexity a obtenu les meilleurs scores pour la qualité du contenu et l'évaluation par les experts, tandis que DeepSeek affichait les performances les plus faibles. En 2026, les scores DISCERN ont convergé entre les modèles, alors que des différences significatives persistaient en matière de lisibilité, de score global de qualité et d'avis des experts. ChatGPT s'est significativement amélioré dans les quatre domaines évalués et a obtenu le meilleur score global de qualité en 2026. DeepSeek a enregistré l'amélioration la plus marquée, notamment pour les scores DISCERN et d'avis des experts. La lisibilité des réponses de Perplexity s'est améliorée, mais cette évolution ne s'est pas accompagnée d'une amélioration parallèle du score global de qualité ni de l'utilité clinique évaluée par les experts. Des risques potentiels pour la sécurité des patients ont été relevés dans sept des 88 réponses fournies par DeepSeek en 2025, tandis qu'aucun risque de ce type n'a été constaté dans les réponses de 2026. Aucune des 528 réponses ne contenait de recommandation explicite considérée comme susceptible de causer un préjudice immédiat ou grave aux patients. CONCLUSIONS: Les performances ont évolué selon des modalités propres à chaque modèle, plutôt que de manière uniformément progressive. Les résultats correspondent à un échantillon de réponses obtenues lors d'une première interrogation à des questions clairement formulées et dérivées de recommandations, plutôt qu'à des estimations robustes des performances ou de la reproductibilité des modèles. Les grands modèles de langage (LLM) peuvent faciliter l'accès aux informations sur l'infertilité masculine, mais une vérification auprès de sources faisant autorité et une supervision humaine appropriée demeurent nécessaires.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206246","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}

{"title":"Alterations in urinary microbiota composition and function in men with Asthenozoospermia: a case-control study.","authors":"Yang Pan, Shangren Wang, Tingshuai Cao, Bing Li, Xuexue Hao, Muwei Li, Li Liu, Xiaoqiang Liu","doi":"10.1186/s12610-026-00326-0","DOIUrl":"10.1186/s12610-026-00326-0","url":null,"abstract":"<p><strong>Background: </strong>Asthenozoospermia (AZS) is a leading cause of male-factor infertility, yet the contribution of the urinary microbiota to sperm motility remains poorly defined, because previous work has focused almost exclusively on the seminal and gut microbiota. Here we used 16S rRNA gene sequencing to characterize the composition and functional profiles of the urinary microbiota in men with AZS and in fertile controls.</p><p><strong>Results: </strong>Isolated AZS and age-matched fertile controls were enrolled, and urinary specimens from participants were sequenced successfully. Alpha diversity of the urinary microbiota did not differ between the two groups. In contrast, beta diversity analysis revealed a statistically significant difference in overall community structure, although the group effect was modest in magnitude (PERMANOVA on Bray-Curtis dissimilarities, R² = 0.13, p = 0.001). Eighteen genera differed significantly in relative abundance. Porphyromonas, Corynebacterium, and Finegoldia were more abundant in men with AZS, whereas Blautia and Bacteroides were more abundant in controls. Predicted functional analysis identified multiple metabolic and genetic-information-processing pathways that differed between the groups, including replication and repair modules, peptidoglycan biosynthesis, one-carbon pool by folate, and nicotinate and nicotinamide metabolism.</p><p><strong>Conclusions: </strong>It appears that men with AZS exhibit altered urinary microbiota structure and predicted functional profile. These associations extend the microbiome-male-infertility axis beyond the seminal and gut compartments and may inform biomarker discovery and microbiome-modulating strategies, although longitudinal and mechanistic studies are required to establish causality.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13663139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179210","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}

{"title":"Protective effects of naringenin and naringin against bisphenol A-induced male reproductive toxicity: mechanistic and preclinical evidence.","authors":"Okon Michael Ben, Ugwu Okechukwu Paul-Chima, Idehen Charles Iyore, Olorunnisola Sinbad Olubukola, Mounmbegna Philippe, Aja Patrick Maduabuchi","doi":"10.1186/s12610-026-00330-4","DOIUrl":"https://doi.org/10.1186/s12610-026-00330-4","url":null,"abstract":"<p><p>Bisphenol A (BPA) has been associated with altered male reproductive hormones and semen endpoints in epidemiological studies and produces endocrine, oxidative, mitochondrial, apoptotic, and developmental injury in experimental models. This narrative review evaluates BPA-specific evidence for naringenin and naringin separately from supportive evidence in other reproductive stress models. It also distinguishes directly exposed F1 outcomes from transgenerational inheritance and links sperm endpoints to hormones, histology, and molecular measures. This narrative review synthesizes evidence published mainly between January 2019 through September 2026, while retaining older studies of direct mechanistic relevance. Evidence was identified through targeted searches of PubMed, Scopus-indexed sources, Google Scholar, and publisher databases and was organized by exposure timing, biological mechanism, model type, and reproductive endpoint. The strongest evidence for BPA-related male reproductive toxicity comes from convergent cellular and animal data supported by heterogeneous human observational studies. The strongest evidence for naringenin or naringin is preclinical and includes BPA-specific Sertoli-cell and rat models as well as related oxidative, metabolic, and phthalate stress models. Across the broader preclinical literature, the flavanones modify redox, mitochondrial, inflammatory, and steroidogenic endpoints, but differences in model, dose, route, and bioavailability prevent quantitative comparison. The evidence supports mechanistic research, not clinical supplementation, and exposure reduction remains the primary public-health approach.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13660110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179174","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}

{"title":"Automated Bergmann-Kliesch Score assessment in testicular biopsies using artificial intelligence-based whole-slide image analysis: a retrospective monocentric development and validation study.","authors":"Simon Gassen, Nadine Flinner, Ingvild Frøberg Mathisen, Julia Bein, Ole Beldermann, Lukas Haug, Jens Köllermann, Felix Chun, Annette Bachmann, Kerstin Lehr, Robin S Mayer, Peter J Wild","doi":"10.1186/s12610-026-00329-x","DOIUrl":"10.1186/s12610-026-00329-x","url":null,"abstract":"<p><strong>Background: </strong>The Bergmann-Kliesch Score is a histopathological grading system used to evaluate spermatogenesis in testicular biopsies, quantifying the fraction of seminiferous tubules containing elongated spermatids. It serves as a key parameter in the clinical process of men with non-obstructive azoospermia (NOA) undergoing testicular sperm extraction (TESE) for subsequent intracytoplasmic sperm injection (ICSI). Manual Bergmann-Kliesch Score assessment is time-consuming and subject to inter- and intraobserver variability. This study aimed to develop and validate an artificial intelligence (AI)-based computational pipeline for automated Bergmann-Kliesch Score assessment from digitized testicular biopsy whole-slide images (WSIs).</p><p><strong>Results: </strong>A retrospective monocentric cohort of 74 patients who underwent TESE at the University Medical Center Frankfurt was analyzed. A dual-model machine-learning pipeline was used to process paired haematoxylin-eosin (HE) and OCT3/4 immunohistochemically stained WSIs. A U-Net architecture with a ResNet-34 backbone was trained on 60 HE-stained slides for tubular segmentation, monitored by a multi-class Dice coefficient of 0.897 on the validation set. A second U-Net model with a ResNet-34 backbone was trained on 15 OCT3/4-stained slides comprising 14,226 manually annotated elongated spermatids for spermatid detection. Both modalities were integrated via multimodal image registration combining rigid alignment and B-spline warping, enabling spatial projection of spermatid detections onto tubular segmentations. On the patient-level held-out test set of 15 patients, AI-derived Bergmann-Kliesch Scores showed strong agreement with pathologist-assigned reference scores (Pearson r = 0.957, Spearman ρ = 0.856, R² = 0.916, mean absolute error = 0.93, root mean squared error = 1.28). At the clinical cutoff of Bergmann-Kliesch Score ≥ 1, the pipeline correctly classified all test-set cases. Across the full evaluation cohort of 74 patients, agreement remained robust (Pearson r = 0.851, Spearman ρ = 0.829, mean absolute error = 1.52, root mean squared error = 2.20).</p><p><strong>Conclusions: </strong>This AI-based pipeline enables automated, reproducible Bergmann-Kliesch Score assessment from routinely stained testicular biopsy WSIs, demonstrating strong agreement with manual pathologist evaluation. The system shows promise as a clinical decision-support tool in TESE workflows. External multicentric validation and prospective correlation with ICSI outcome data are warranted in future studies.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149103240","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}

{"title":"Integrative network toxicology analysis reveals mechanistic links between PFOA exposure and male reproductive dysfunction.","authors":"Tao Zhou, Xinyu Zhang, Jinghong Yang, Juan Wang","doi":"10.1186/s12610-026-00328-y","DOIUrl":"10.1186/s12610-026-00328-y","url":null,"abstract":"<p><strong>Objective: </strong>To systematically investigate the molecular mechanisms linking perfluorooctanoic acid (PFOA) to male reproductive health outcomes within a network toxicology framework, and to compare shared pathways across erectile dysfunction (ED), male infertility, and testicular dysfunction.</p><p><strong>Methods: </strong>PFOA associated targets were identified using CTD, SwissTargetPrediction, and TargetNet, while disease related genes were collected from GeneCards. Protein-protein interaction (PPI) networks were constructed using STRING and analyzed in Cytoscape to identify hub genes. GO and KEGG enrichment analyses were performed to characterize biological processes and pathways affected by PFOA. Molecular docking was used to assess binding affinities between PFOA and key target proteins. In addition, preliminary in vitro experiments were performed to examine the expression patterns of selected candidate genes following PFOA exposure.</p><p><strong>Results: </strong>A total of 105 PFOA related genes were identified. Intersection analyses yielded 15, 25, and 42 genes associated with ED, male infertility, and testicular dysfunction, respectively. Ten core genes (AR, ESR1, BCL2, NOS1, NOS2, NOS3, ACE, SIRT1, TLR9, SHBG) were shared across all phenotypes and showed high connectivity in the PPI network. Enrichment analyses indicated involvement in reproductive system development, hormone and nuclear receptor regulation, calcium and nitric oxide (NO) signaling, mitochondrial and redox processes, and apoptosis and inflammation related pathways. Preliminary in vitro experiments further validated the expression changes of selected key genes.</p><p><strong>Conclusions: </strong>This study identifies key molecular targets and pathways potentially mediating PFOA associated male reproductive toxicity. The results support a working hypothesis that PFOA associated male reproductive toxicity may involve altered androgen estrogen receptor signaling, NO related pathways, and apoptosis/inflammation associated regulation. These findings provide a theoretical basis for future mechanistic validation and risk assessment.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13621771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149073532","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}

{"title":"Comparison of modified one-layer and formal two-layer microsurgical vasovasostomy for vasectomy reversal.","authors":"Junlong Wang, Junhui Wu, Jiali Li, Wenhao Zhang, Dengxiong Li, Jiasheng Yan, Xiaodong Jin","doi":"10.1186/s12610-026-00323-3","DOIUrl":"10.1186/s12610-026-00323-3","url":null,"abstract":"<p><strong>Background: </strong>The formal two-layer microsurgical technique is considered the gold standard for vasovasostomy (VV) because of its excellent outcomes; however, it is technically demanding and time-consuming. In this study, we compared the outcomes of modified one-layer and formal two-layer microsurgical VV in men undergoing VV.</p><p><strong>Results: </strong>This retrospective analysis included 62 men who underwent bilateral microsurgical VV performed by a single surgeon between 2017 and 2024. The formal two-layer and modified one-layer techniques were performed in 27 and 35 men, respectively. The mean operative time was significantly shorter with the modified one-layer technique than with the formal two-layer technique (118.89 ± 7.99 vs. 152.52 ± 9.31 min, P < 0.001). Patency rates (91.43% [32/35] vs. 92.59% [25/27], P = 0.448) and pregnancy rates (34.29% [12/35] vs. 37.04% [10/27], P = 0.822) were comparable between the two groups. Postoperative sperm concentration and motility did not differ between the two groups. No complications and postoperative reobstruction were observed in either group.</p><p><strong>Conclusions: </strong>Compared with formal two-layer microsurgical VV, the modified one-layer technique achieved comparable patency and pregnancy rates while reducing technical difficulty and operative time. It may therefore represent an alternative surgical approach with potential clinical benefits for VV.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13440097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148673020","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}

{"title":"Point-of-care ultrasound evaluation of obstructive azoospermia in a patient with prior bilateral Cohen ureteral reimplantation: A case report.","authors":"Shlomi Barak, Netanel Waldenberg, Guy Bar, Oshri Barel, Snir Dekalo, Atef Zeadna, Benzion Samueli, Guy Shrem","doi":"10.1186/s12610-026-00321-5","DOIUrl":"10.1186/s12610-026-00321-5","url":null,"abstract":"<p><strong>Background: </strong>Obstructive azoospermia (OA) is a potentially treatable cause of male infertility. Point-of-care ultrasonography (POCUS) has emerged as a valuable adjunct in the evaluation of male infertility, enabling rapid identification of sonographic findings suggestive of reproductive tract obstruction. We describe the use of scrotal POCUS in the evaluation of OA in a man with a history of infantile bilateral Cohen cross-trigonal ureteral reimplantation for severe vesicoureteral reflux.</p><p><strong>Case presentation: </strong>A 32-year-old man presented with primary infertility and azoospermia, with normal semen volume and pH. His medical history was notable for severe grade V vesicoureteral reflux treated with bilateral Cohen cross-trigonal ureteral reimplantation at 4 months of age. Physical examination demonstrated bilaterally palpable vasa deferentia and normal testes. Hormonal evaluation and genetic testing were unremarkable. Scrotal POCUS revealed multiple cystic structures in both epididymides with otherwise normal-appearing testes, findings highly suggestive of OA. A normal hormonal profile further supported an obstructive etiology. In the absence of alternative etiologies, OA was considered the most likely diagnosis. The patient subsequently underwent successful testicular sperm aspiration (TESA), yielding abundant motile sperm for cryopreservation, with histopathologic confirmation of normal spermatogenesis.</p><p><strong>Conclusions: </strong>This case highlights the potential value of scrotal POCUS as a rapid bedside tool that can support the diagnosis of OA and facilitate timely clinical decision-making. In patients with a history of prior genitourinary surgery, characteristic sonographic findings may help guide management and expedite fertility treatment. Further studies are warranted to better define the role of POCUS in the diagnostic evaluation of male infertility.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13430907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663347","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}

{"title":"Semen abnormalities and associated factors among men seeking fertility services in Eastern and Central Uganda: a multicentre cross-sectional study.","authors":"Ali Abdow Hafsa, Marie Pascaline Sabine Ishimwe, Musa Kasujja, Maxwell Okello, Theodore Nteziyaremye, Chinyere N Anyanwu, Sharifah Namutebi, Sara Liban, Ronard Musinguzi, Dale Mugisha, Amina Aden Ahmed, Amina Mohamed Mire, Bahja Ahmed Mumim, Amos Muhumuza, Akib Surat Olabisi, Theoneste Hakizimana","doi":"10.1186/s12610-026-00322-4","DOIUrl":"10.1186/s12610-026-00322-4","url":null,"abstract":"<p><strong>Background: </strong>Male-factor infertility contributes substantially to the burden of infertility, yet evidence on semen abnormalities and their associated factors in Uganda remains limited. This study assessed the prevalence, patterns, and factors associated with abnormal semen values among men seeking fertility services in Eastern and Central Uganda.</p><p><strong>Methods: </strong>A cross-sectional study was conducted among 155 men attending Jinja Regional Referral Hospital, Kayunga Regional Referral Hospital, and Healingway Diagnostic and Fertility Centre between September 2025 and January 2026. Semen analysis was performed using World Health Organization criteria. Factors associated with abnormal semen values were assessed using bivariable and multivariable logistic regression analyses.</p><p><strong>Results: </strong>Overall, 52 of 155 participants had at least one abnormal semen parameter, giving a prevalence of 33.5% (95% CI: 26.5-41.4). The prevalence did not differ significantly across study sites (p = 0.841). Teratozoospermia (42.3%) and asthenozoospermia (38.5%) were the most common abnormalities, followed by hypospermia (26.9%), necrozoospermia (25.0%), oligozoospermia (23.1%), and azoospermia (23.1%). Hypertension (AOR = 5.23; 95% CI: 1.10-24.93), diabetes mellitus (AOR = 4.82; 95% CI: 1.85-12.57), medication use (AOR = 2.73; 95% CI: 1.11-6.71), history of mumps infection (AOR = 5.29; 95% CI: 1.25-22.31), and occupational hazard exposure (AOR = 4.23; 95% CI: 1.60-11.13) were independently associated with abnormal semen parameters.</p><p><strong>Conclusions: </strong>Approximately one in three men seeking fertility services in Eastern and Central Uganda had at least one abnormal semen parameter, with abnormalities in sperm morphology and motility being the most common findings. Hypertension, diabetes mellitus, medication use, history of mumps infection, and occupational hazard exposure were associated with abnormal semen parameters. Assessment of medical conditions, previous infections, medication use, and occupational exposures may therefore be useful when evaluating men presenting with infertility.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583359","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}

{"title":"A novel homozygous frameshift mutation in CFAP65 is associated with multiple morphological abnormalities of sperm flagella in a consanguineous Pakistani family.","authors":"Musavir Abbas, Ansar Hussain, Ma Hui, Haider Ali, Muhammad Lateef, Mujahid Hussain, Ghulam Mustafa, Baolu Shi, Huan Zhang, Tingting Lin, Hao Yin, Qinghua Shi","doi":"10.1186/s12610-026-00319-z","DOIUrl":"10.1186/s12610-026-00319-z","url":null,"abstract":"<p><p>Multiple morphological abnormalities of the sperm flagella (MMAF) represent a severe form of asthenozoospermia that leads to male infertility, and it is commonly associated with genetic defects affecting flagellar components. Although the gene CFAP65 has been implicated in MMAF, its full mutational spectrum and clinical relevance within highly consanguineous populations remain poorly characterized. To elucidate the genetic basis of this condition, whole-exome sequencing followed by Sanger sequencing was performed in two infertile individuals from a consanguineous Pakistani family. Sperm morphology was assessed using hematoxylin-eosin (H&E) staining; while scanning and transmission electron microscopy (SEM and TEM) were utilized to evaluate ultrastructural defects. A novel homozygous frameshift mutation in CFAP65 (c.582_587delinsCG; p.Q194Hfs*4) was identified. This mutation introduces a premature stop codon within the transmembrane helix domain. Morphological analysis revealed classic MMAF features, including absent, short, bent, and coiled flagella in over 97% of sperm. TEM further demonstrated severe axonemal disorganization, with absent or disrupted microtubule doublets observed in 85% of the cross-sections. Based on clinical history and chest X-ray, the affected individuals reported no chronic respiratory symptoms and had no situs inversus, suggesting an isolated sperm-specific phenotype. In conclusion, this study identifies a novel domain-specific CFAP65 mutation associated with MMAF and male infertility in a consanguineous Pakistani family, thereby expanding the known genetic mutational landscape of MMAF. These findings reinforce the crucial role of CFAP65 in sperm flagellar morphogenesis and underscore its significance in the genetic diagnosis of male infertility.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148535010","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}

{"title":"Assessing the treatment of male infertility through principal component analysis: a retrospective study.","authors":"Muhammed Ali Kamal, Kawa M Jamal Rashid","doi":"10.1186/s12610-026-00317-1","DOIUrl":"10.1186/s12610-026-00317-1","url":null,"abstract":"<p><strong>Background: </strong>To determine whether routine fertility treatments reorganize the systemic architecture of semen parameters in infertile men, rather than producing isolated parameter improvements. We specifically investigated whether morphology becomes more functionally integrated with motility and other core fertility indicators following treatment.</p><p><strong>Materials and methods: </strong>Paired pre and posttreatment semen samples from 112 infertile men attending Faruk Medical City, Kurdistan Region of Iraq (2015-2024), were analyzed. Data included age, liquification time, abstinence days, white blood cells, semen volume, sperm concentration, total sperm number, progressive motility, normal morphology, and sperm defects. Non-normal data were transformed, and Spearman's correlations and Principal Component Analysis (PCA) were used to characterize systemic relationships before and after treatment.</p><p><strong>Results: </strong>Semen parameter relationships showed reorganization following treatment, rather than isolated gains. Core indicators (concentration, sperm number, motility) maintained structural stability (Principal Component (PC)1 variance: 34%→35%), while morphology became more integrated with other parameters. Correlations between morphology and concentration increased 51% (rs = 0.327→0.494) and with motility 32% (rs = 0.453→0.597). PCA confirmed this reorganization, with PC2 transitioning from a 'structural defect' component toward a pattern consistent with a 'functional integration' axis coupling morphology and motility. Age-stratified analysis revealed stronger morphology-motility coordination in younger men, whereas older men showed persistent viscosity and defect issues. Leukocyte-defect correlations weakened, a pattern consistent with reduced inflammatory contributions to sperm abnormalities.</p><p><strong>Conclusions: </strong>Fertility treatments were associated with systemic reorganization of semen parameter networks, with morphology emerging as a central biomarker of functional recovery. These findings support a shift from single-parameter monitoring toward multivariate, systems-based approaches and highlight the value of age-stratified treatment strategies and anti-inflammatory interventions in optimizing outcomes.</p>","PeriodicalId":8730,"journal":{"name":"Basic and Clinical Andrology","volume":"36 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148395774","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}