Andrology最新文献

Background: Erectile dysfunction (ED) in young men is often assumed to be psychogenic, which may lead to underdiagnosis of organic causes such as vasculogenic ED, particularly in the absence of overt comorbidities.

Objectives: This study aims to investigate the clinical manifestations, risk assessment, and penile hemodynamic pattern in younger ED patients, with a particular focus on identifying factors associated with vasculogenic ED.

Materials and methods: We retrospectively reviewed the medical records of patients who sought evaluation for ED and underwent penile Doppler ultrasound (PDU) between May 2016 and April 2023. Patients were categorized into younger (≤40 years) and older (>40 years) groups. Clinical characteristics, comprehensive biochemical parameters, and PDU results were collected and analyzed.

Results: Among 1007 ED patients enrolled, 200 were classified as younger ED (19.9%) and had fewer systemic comorbidities than older patients. Notably, 21.5% of younger ED patients exhibited penile vasculogenic dysfunction. Diabetes mellitus (DM) emerged as the strongest independent predictor of vasculogenic ED (OR 5.60, p = 0.015) and moderate to severe ED (OR 4.75, p = 0.023). Younger ED patients with DM demonstrated significantly lower peak systolic velocity (PSV), elevated end-diastolic velocity (EDV), and a reduced resistive index (RI) compared with their non-diabetic counterparts. The prevalence of vasculogenic ED was highest in DM patients (58.3%), followed by prediabetes (25%) and non-DM (17.8%).

Discussion and conclusion: A substantial portion of young men with ED have underlying vasculogenic causes, especially related to diabetes. Early vascular impairment can be detected via PDU, even in patients without classic risk factors. This highlights the importance of considering penile vascular assessment and metabolic screening in the evaluation of younger ED patients to guide timely intervention and prevent long-term complications.

Objectives: This study investigate the preliminary surgical and functional outcomes of a new direct somatic-to-autonomic penile neurotization procedure transposing the gracilis branch of the obturator nerve to the corpora cavernosa bilaterally in patients affected by erectile dysfunction (ED) after radical prostatectomy (RP).

Materials and methods: A prospective trial was conducted to evaluate erectile function through validated questionnaires after the surgical procedure in patients after RP non-nerve sparing (NNS) (Group 1) or nerve sparing (NS) (Group 2).

Results: From October 2020 to January 2025, a total of 15 patients were enrolled in the study. Median age was 58 years (IQR: 54-61). 10 patients (66.7%) belong to the NS group while 5 (33.3%) underwent a NNS RP. The median time from RP to nerve transfer was 18 months (IQR: 13-26). No significant intraoperative or postoperative complications (greater than grade 1 according to Clavien-Dindo) were observed. As for functional results, a significant increase in median values of 3 validated questionnaires was noted at 24 months compared to the baseline evaluation. 41,7% of patients regained the ability to have satisfying sexual intercourse using PDE5i. The current sample size did not allow for a comparative analysis between the two groups.

Conclusion: The preliminary outcomes of this pilot study indicate that the proposed technique appears feasible and safe, with early signals of potential benefit on erectile function. However, these findings are exploratory in nature and larger, well-designed are required to confirm the true clinical efficacy of this approach.

Introduction: Male factor contributes up to half of infertility cases and reports of a global decline in semen quality raise concern for the future of male reproductive health. However, fertility trends can vary by region and population. Interpreting local patterns is crucial for understanding the true trajectory of male fertility. We describe longitudinal trends in semen parameters among men attending a single fertility clinic in Ireland.

Methods: We retrospectively analysed 18,219 semen analyses for 15,413 men attending a fertility clinic between 2008 and 2023. Sperm concentration, progressive motility and total motile sperm count (TMSC) were analysed, with 2021 WHO criteria applied to identify subnormal results. Non-parametric tests were applied to assess temporal changes (Kruskal-Wallis with Dunn's post-hoc test for multiple comparisons). A longitudinal subanalysis compared first and last semen samples among men with repeat testing, and grouped by time interval (<1 year, 1-3 years, 3-5 years, >5 years).

Results: Median sperm concentration increased significantly from 57 M/mL in 2008 to 70 M/mL in 2023 (p < 0.0001), representing a 22.8% rise. TMSC showed a slight, non-significant rise, while progressive motility remained stable over time. The proportion of oligospermic (<16 M/mL) and azoospermic (0 M/mL) samples was unchanged between 2008 (19.5% and 3.7%) and 2023 (21% and 3.6%). Longitudinal intra-individual analysis demonstrated no significant changes in semen parameters across short, medium and long-term follow-up, except for reduced semen volume at 3-5 years.

Conclusions: Contrary to concerning reports of a global decline in semen quality, we observed a significant increase in sperm concentration over a 16-year period, with stable rates of oligospermia and azoospermia. These findings emphasise the importance of regional differences and suggest that local factors such as healthcare access and lifestyle may play a role. Examining local trends provides a more nuanced understanding of overall male fertility trends and may inform targeted clinical and public health strategies.

Background: Male factor infertility accounts for nearly half of infertility cases worldwide, yet modifiable lifestyle-related risk factors remain insufficiently integrated into andrological research and clinical practice. Sleep disorders have emerged as an increasingly important but underrecognized determinant of male reproductive health, with growing evidence linking disturbed sleep to impaired spermatogenesis and gonadal dysfunction.

Objectives: This review synthesizes current evidence on the association between sleep disorders and male infertility, identifies key mechanistic pathways underlying sleep-related reproductive impairment, and proposes an integrated pathophysiological framework to inform precision phenotyping and targeted interventions.

Methods: A narrative review was conducted integrating epidemiological, experimental, and clinical studies addressing sleep disorders and male reproductive outcomes, with emphasis on oxidative stress, inflammation, endocrine and metabolic dysregulation, circadian rhythm disruption, epigenetic regulation, and related therapeutic evidence.

Results: Evidence indicates that sleep disorders compromise male fertility through converging mechanisms. Excessive reactive oxygen species (ROS) generation and chronic inflammatory activation directly damage testicular tissue and sperm DNA. Disruption of the hypothalamic-pituitary-gonadal (HPG) axis impairs testosterone synthesis and hormonal rhythmicity essential for spermatogenesis, while metabolic-endocrine dysregulation further exacerbates gonadal dysfunction. Circadian misalignment induces epigenetic reprogramming in spermatozoa, potentially mediating intergenerational reproductive effects. Integrating these findings, we propose the sleep-oxidative stress-circadian disruption-epigenetics-spermatogenesis axis as a unifying model linking sleep disorders to male infertility. Multimodal interventions, including continuous positive airway pressure (CPAP), antioxidant therapy, endocrine and metabolic modulation, circadian rhythm restoration, and cognitive-behavioral approaches, demonstrate potential to mitigate sleep-related reproductive impairment.

Conclusions: Sleep disorders represent clinically actionable contributors to male infertility. An integrated framework incorporating oxidative stress, circadian biology, endocrine regulation, and epigenetic inheritance supports a precision andrology approach. Future directions include epigenetic biomarker - guided stratification, artificial intelligence (AI) - assisted sleep assessment, and longitudinal follow-up to optimize individualized management of sleep-related male reproductive dysfunction.

Background: Fertility preservation in patients with testicular cancer remains a clinical priority, yet the optimal timing for sperm cryopreservation-before or after orchidectomy-remains a matter of debate.

Objectives: The aim of this study was to determine the optimal timing for semen cryopreservation and the best-quality sample for ART. We evaluated various markers, including semen analysis, hormonal profiles, ultrasound analysis and sperm DNA fragmentation (SDF) before and after orchidectomy.

Material and methods: Comprehensive evaluations were conducted, including semen analysis, hormonal profiling, testicular ultrasound, and SDF assessment.

Results: Post-orchidectomy samples exhibited a significant decline in total sperm count and progressive motility, as well as an increase in morphological abnormalities. However, a notable and significant reduction in SDF was observed after surgery, suggesting improved chromatin integrity once the tumour had been removed. Elevated preoperative follicle-stimulating hormone (FSH) and higher body mass index (BMI) were identified as risk factors for post-operative oligozoospermia. Hormonal assessment revealed increased levels of FSH and luteinising hormone (LH) post-surgery, with a slight decrease in total testosterone. A significant relationship emerged between testicular volume and changes in SDF: patients with larger contralateral testicular volume experienced a more pronounced improvement in DNA fragmentation, while testicular echotextural heterogeneity was associated with a diminished benefit.

Discussion and conclusion: Although not all participants underwent full diagnostic evaluation, limiting certain analyses, the findings nonetheless underscore the importance of a detailed andrological assessment at the time of diagnosis. This should include semen analysis, hormonal evaluation and ultrasound examination of the contralateral testis to inform personalised fertility preservation strategies. Despite the deterioration in conventional semen parameters, the post-orchidectomy sample demonstrated better DNA integrity and may thus represent the more suitable sample for use in assisted reproductive technologies.

This review summarizes the molecular and cellular mechanisms underlying busulfan-induced male infertility and evaluates the translational potential of current and emerging therapeutic strategies. Evidence indicates that busulfan induces germ cell DNA alkylation damage, triggers sustained oxidative stress, and activates multiple cell death pathways. These events are accompanied by supporting cell dysfunction, disruption of the blood-testis barrier (BTB), and endocrine imbalance, collectively driving progressive impairment of spermatogenesis. In response to these pathological processes, various interventions have been explored, including antioxidant molecules, natural extracts, epigenetic modulation, and stem cell-related approaches, many of which show partial improvement of spermatogenic function in experimental models. In addition, clinical strategies used for other forms of male infertility, such as gonadotropin supplementation and antioxidant supportive therapy, provide relevant reference frameworks for chemotherapy-associated fertility impairment. However, most studies on busulfan-induced infertility remain preclinical, and their benefits largely reflect supportive modulation of the testicular microenvironment rather than definitive restoration of spermatogonial stem cells (SSCs) or repair of genotoxic damage. Based on an integrated assessment of current evidence, this review highlights key unresolved challenges, including the lack of a defined therapeutic safety window, limitations in targeted delivery, and difficulties in achieving fundamental reconstruction of the spermatogenic system. Accordingly, future studies should place greater emphasis on more effective isolation and protection of testicular tissue, development of targeted drug delivery systems, and strategies aimed at spermatogenic system reconstruction.

Background: The RXFP2 receptor plays a key role in testicular descent, mediating the action of relaxin on gubernaculum development. The T222P polymorphism in the RXFP2 gene has previously been investigated in relation to cryptorchidism, but reported associations have been inconsistent across populations.

Objectives: The aim of this meta-analysis was to assess the association of the T222P variant in the RXFP2 gene with the risk of cryptorchidism and to analyze effect-modifying factors, including population structure and allele frequencies in control groups.

Materials and methods: A systematic literature review was conducted in PubMed, Embase, Web of Science, Scopus, and supplementary sources. Five studies with genotypic data for the T222P variant in case and control populations were selected. Allele and genotype frequencies were calculated, followed by cumulative OR values with 95% confidence intervals. Between-study heterogeneity was assessed using the I² statistic, and moderator analyses (Italy vs. other countries and P allele frequency in controls) as well as leave-one-out sensitivity analyses were performed. Study quality was assessed using the Newcastle-Ottawa Scale.

Results: Carriers of the T222P variant showed a trend toward increased odds of cryptorchidism, with a more pronounced effect observed in Italian cohorts. Heterogeneity was moderate (I² ≈ 50%), and moderator analysis suggested that population differences and P allele frequency in controls may contribute to variability in effect estimates. Sensitivity analyses and alternative genotype models supported the consistency of the findings across analytical approaches.

Discussion: The results support a potential association between the RXFP2 T222P variant and cryptorchidism risk, with population-specific effects likely reflecting underlying genetic background.

Conclusion: The RXFP2 T222P variant may be associated with an increased risk of cryptorchidism, but current evidence remains hypothesis-generating. Further studies in larger, ethnically diverse samples, with full genotyping and functional analysis, are needed to confirm and elucidate the mechanisms underlying the observed effect.

Background: Sperm sexing is a technique that enables the selection of offspring sex by sorting spermatozoa based on their sex chromosomes. This technology has gained increasing attention due to its potential applications in both animal breeding and human-assisted reproduction.

Applications: In livestock production, sperm sexing offers substantial economic and genetic benefits, including increased milk production in dairy cattle, improved meat yields in beef cattle, and the prevention of sex-linked genetic diseases. In human reproduction, sex selection techniques may support family balancing and reduce the risk of transmitting hereditary disorders. Commonly used methods, such as flow cytometry and density gradient centrifugation, have been progressively refined to enhance sorting efficiency and accuracy.

Challenges: Despite its advantages, sperm sexing presents technical limitations and raises ethical concerns, particularly regarding its societal implications and the welfare of embryos selected through assisted reproductive technologies.

Conclusions and future perspectives: This review summarizes current sperm sexing methods and their applications in animals and humans, highlights existing challenges, and discusses future directions for technological advancement. The development of safer, more effective, and ethically acceptable approaches may further expand the role of sperm sexing in sustainable animal production and personalized reproductive medicine.

Background: Fluorescence-activated cell sorting (FACS) has emerged as a powerful tool for selecting spermatozoa of a desired population of fluorescent biomarkers, offering potential applications in reproductive biology and agriculture. However, concerns remain regarding sorting-induced physiological alterations that could compromise spermatozoa and/or their ability to capacitate.

Objectives: Our objective was to determine whether catch media composition influences sperm recovery rate and physiological responses post-sort, before and after in vitro capacitation (IVC).

Materials and methods: Five million spermatozoa per treatment were sorted and assessed immediately (0 h) and after 4 h of in vitro capacitation (4 h) using computer-aided sperm analysis (CASA) and Image-Based Flow Cytometry (IBFC). Treatments included six FACS-sorted groups across three media types with BSA or PVA supplementation, and one unsorted control. Functional parameters, including motility, zinc efflux, oxidative stress, membrane remodeling, and mitochondrial activity, were quantitatively assessed.

Results: We found that catch media without PVA or BSA had a near 10%-24% sperm recovery compared to 88%-92% with supplementation (p < 0.05). Immediately post-sort, spermatozoa exhibited minimal alterations relative to controls; however, after 4 h IVC, sorted groups demonstrated significant shifts in zinc efflux (p < 0.05), increased plasma membrane remodeling (p < 0.05), and reduced mitochondrial activity (p < 0.05). While LTX-based media preserved motility, differential responses in membrane integrity and zinc signature distribution were observed between treatments, suggesting that catch media can modulate capacitation outcomes. Notably, mitochondrial and membrane changes became more evident after capacitation incubation, indicating a delayed effect of sorting stress.

Conclusion: These findings highlight the importance of optimizing catch media and incubation conditions to maintain post-sorting sperm functionality and inform the refinement of FACS protocols for agricultural and assisted reproductive technologies. By minimizing sorting-associated stress through media composition, sperm quality and fertilization potential may be better preserved.

Background: Non-obstructive azoospermia (NOA) is a major cause of male infertility, frequently associated with congenital factors. Nevertheless, the genetic underpinnings of NOA remain largely unclear.

Objectives: This study aimed to identify and characterize novel genetic variants contributing to NOA, with a focus on TEX14, a gene critical for intercellular bridge (ICB) formation during meiosis.

Materials/methods: Exome sequencing was performed on genomic DNA from a cohort of 673 patients with NOA, 143 individuals with oligozoospermia, and 100 fertile controls. Potentially pathogenic TEX14 variants were identified and confirmed by Sanger sequencing. Functional analysis, including qPCR and Western blot, was performed to assess TEX14 expression levels in patient and mouse testicular samples and the effects of TEX14 variants on spermatogenesis and ICB formation in both mice and humans.

Results: We identified six novel TEX14 variants in four unrelated infertile Chinese men, including three frameshift mutations (c.2908dupC, p.Arg970Profs5; c.1881dupA, p.Gly628Argfs8; c.1728_1729del, p.Leu577Argfs*58), two missense mutations (c.1121A>G, p.Tyr374Cys; c.865G>A, p.Glu289Lys), and one splicing mutation (c.417+2T>C). To functionally validate the pathogenicity of the frameshift variant c.2908dupC, a mouse model carrying an analogous mutation (Tex14^MT1/MT1) was generated. These mice recapitulated the human NOA phenotype, showing a complete loss of TEX14 expression in the testis. Immunofluorescence and histological analyses revealed that spermatogenesis in Tex14^MT1/MT1 mice was arrested at the zygotene stage due to a complete failure of the ICB formation. Consistent with this, testicular histology from the patient carrying the c.2908dupC variant also showed meiotic arrest at zygotene and absent ICBs. Furthermore, mass spectrometry analysis of purified ICBs indicated that ICB-associated proteins are predominantly involved in RNA processing and ribonucleoprotein complex biogenesis.

Discussion and conclusion: Our results demonstrate that loss-of-function mutations in TEX14 disrupt meiotic ICB formation, leading to zygotene arrest and NOA in both mice and humans, expand the spectrum of pathogenic variants associated with NOA, and establish the essential role of TEX14 in meiotic progression, underscoring the functional importance of TEX14 in male fertility.