Basic and Clinical Andrology最新文献

The annulus is an electron-dense ring structure that surrounds the axoneme and compartmentalizes the sperm flagellum into two parts: the midpiece and the principal piece. The function of the annulus as a diffusion barrier in the mature spermatozoon is now well described but its function during spermiogenesis remains unclear. The intriguing spatio-temporal dynamics of the annulus during spermiogenesis and its position at the interface of the two main flagellar compartments have been highlighted for more than 50 years, and suggest a major role in this process. During the last decade, numerous studies contributed in establishing a repertoire of proteins known to be located at the annulus. Mutant mouse models of invalidation of these proteins have provided essential information and clues for novel hypotheses regarding the functions and regulation of this structure. Importantly, the recent identification in humans of homozygous mutations of genes coding for annulus proteins and leading to sterility have reinforced the importance of this ring structure for sperm physiology and male fertility. This review provides a comprehensive description of all the knowledge obtained in the last several years regarding the annulus composition and functions, both in mice and in humans.

Background: Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role. However, known mutations account for only some acephalic spermatozoa syndrome patients, and more studies are needed to elucidate its pathogenesis. The current study aimed to elucidate the pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation.

Results: We identified a homozygous splice site mutation (NM_031293.2, c.2089-1G > T) in PMFBP1 through Sanger sequencing. Western blotting and immunofluorescence analyses revealed that this splice site mutation resulted in the absence of PMFBP1 protein expression in the patient's sperm cells. We generated an in vitro model carrying the splice site mutation in PMFBP1 and confirmed, through RT‒PCR and Sanger sequencing, that it led to a deletion of 4 base pairs from exon 15.

Conclusion: A homozygous splice site mutation results in a deletion of 4 bp from exon 15 of PMFBP1, thereby affecting the expression of the PMFBP1 protein. The absence of PMFBP1 protein expression can lead to acephalic spermatozoa syndrome. This finding elucidates the underlying cause of acephalic spermatozoa syndrome associated with this specific mutation (NM_031293.2, c.2089-1G > T) in PMFBP1.

Background: Premature ejaculation (PE) is one of the most common diseases in andrology and leads to serious male sexual dysfunction. Although several targeted oral drug therapies are used to treat PE, they often face challenges related to imprecise targeting and adverse effects. Acupuncture has shown potential in prolonging ejaculation time and improving couples' sexual quality of life. This review aims to summarize the benefits of acupuncture in treating PE and explore its probable neurobiological mechanisms.

Results: The review included eight clinical trials involving 679 patients, of which 294 were treated with acupuncture. Furthermore, this review analyzed acupuncture points, needle retention time, treatment duration, and their probable neurobiological mechanisms. The proposed mechanisms include stimulating the frontal functional lobe, inhibiting spinal cord neural pathways, regulating serotonin levels, enhancing 5-hydroxytryptamine receptor IB excitability, reducing penile sensitivity, and modulating hormone levels.

Conclusions: Acupuncture is a viable alternative or complementary therapy for PE, and neurobiological mechanisms appear to play a key role, but further experimental validation is needed.

Background: Testicular microlithiasis (TM) is characterised by microcalcifications in the testes and has been associated with infertility. This has led to studies of semen analysis in men with the condition. This systematic review aimed to compare semen parameters in men with TM and those without. Men with classic TM (≥ 5 microcalcifications per sonographic image) were also compared to those with limited TM (< 5 microcalcifications per sonographic image). Additionally, testicular volume and hormone levels were analysed as secondary outcomes. This review was carried out according to PRISMA guidelines and registered on PROSPERO. The quality of included studies was assessed using the Newcastle-Ottawa Scale.

Results: Embase, MEDLINE, World of Science and Scopus were searched. Abstracts were screened against inclusion/exclusion criteria by two independent reviewers. Eligible studies included data on semen parameters in men with TM where semen analysis was done according to World Health Organisation recommendations. Studies with populations consisting of men with testicular cancer were excluded. After searching the databases, 137 papers were found and 10 studies involving 611 men with TM were included in the analysis. In the studies that compared sperm concentration in men with TM to controls, six (100%) found lower sperm concentration in the TM group. Six studies compared sperm motility, of which 4 (66.7%) showed lower motility in the TM group compared to controls. Five studies compared sperm morphology, with three (60%) finding a lower percentage of normal morphology in the TM group compared to controls. Six studies compared classic TM with limited TM. All six (100%) found a lower sperm concentration in the classic TM group compared to the limited TM group. Results also suggested that more extensive disease is associated with poorer sperm concentration.

Conclusions: This review suggests that TM is associated with decreased semen parameters, particularly sperm concentration. However, clinical outcomes should be investigated by studying pregnancy rates in males with TM. Future research that controls for confounding variables, involves larger sample sizes, and utilises advanced sperm function tests is also advised. Further research is important for establishing clinical guidance and suggestions for fertility follow-up in men with TM.

Background: Stuttering priapism is characterized by recurrent, self-limited episodes of penile erection lasting from a few minutes to a maximum of three hours, often resolving spontaneously. These episodes can occur with or without sexual stimulation. If not treated promptly and effectively, stuttering priapism can severely impact a patient's quality of life, leading to significant psychological distress and anxiety related to sexual performance. Although it has been associated with various hematological disorders and pharmacological treatments, many cases of stuttering priapism remain idiopathic, meaning they have no identifiable cause. Currently, no conclusive randomized clinical trials exist on the management of idiopathic stuttering priapism. This study aims to review the existing literature on the pathophysiology and management of idiopathic stuttering priapism and propose an algorithm to assist physicians in its evaluation and treatment.

Results: A systematic literature review was conducted using the PubMed database, focusing on the terms "idiopathic," "stuttering," "ischemic," and "priapism." The search identified 23 relevant references published between 1991 and 2022. The selection and analysis of these studies adhered to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, and results were described qualitatively. Recent research into the effectiveness, sustainability, tolerability, and side effects of various treatments for idiopathic stuttering priapism has enhanced the understanding of its underlying molecular mechanisms. Various treatments, targeting different mechanisms, have been identified that can potentially reduce the frequency and severity of episodes and improve patient outcomes.

Conclusion: Current research predominantly addresses the acute treatment of idiopathic stuttering priapism rather than strategies to alter the disease's overall course. The limited number of treatment reviews, case reports, and the low level of evidence available, combined with the absence of randomized clinical trials, prevent the establishment of a consensus on treatment protocols. As a result, idiopathic stuttering priapism remains under-recognized and under-treated. This review proposes a management framework to help clinicians access and apply the available literature effectively, minimizing the reliance on extensive case reports and review articles.

Background: Despite numerous efforts to demonstrate the presence of the SARS-CoV-2 in semen of affected males, no clear evidence exists. We conducted a multicenter prospective study on adult patients with a confirmed diagnosis of SARS-CoV-2 including patients with active infection (Active Group) and with a history of COVID-19 disease at least of 6 months (Recovered Group). An RT-PCR test for SARS-CoV-2 and a semen analysis were performed on the semen of the enrolled patients. Genital/sexual symptoms were investigated in both groups. In the active infection group, urinary and sexual functions were assessed in the active phase and after 6 months. Finally, the literature on the detection of SARS-CoV-2 in semen was reviewed non-systematically.

Results: Sixty-five patients were enrolled (Active Group = 15, Recovered Group = 50). RT-PCR testing for SARS-CoV-2 found no trace of the virus in any of the semen samples. Genital/sexual symptoms during the active phase were reported in 8 (12.2%) patients. No statistically significant differences in semen quality were found between the two groups. IPSS and IIEF-5 scores did not change significantly during the different phases of infection about (p > 0.05).

Conclusions: SARS-CoV-2 was not detected in semen of acute or recovered cases. Sperm parameters were not significantly different in the two groups. Urinary and erectile functions appeared stable across the phases of infection.

Background: The septum of the penis or the pectiniform septum (from Latina pecten) is a connective structure that separates the two corpora cavernosa of the penis. It is formed through the joining of the circular fibers of the tunica albuginea, which envelops the corpora cavernosa. The septum neither completely separates, nor entirely joins the two corpora cavernosa.

Results: We dissected the penile septum in 10 formalized bodies. The dissections were carried out using magnifying lenses, emphasizing the connective structures. We studied the structure of the septum using transverse and sagittal dissection planes. We identified the penile septum as a structure consisting of clusters of tendinous cords incompletely separating the two cavernous structures. The septum completely separates the two corpora cavernosa in its posterior segment. As we progress forward, the septum starts resembling the tendinous cords that attach to the papillary muscles of the heart. These cords are differentiated from the internal layer of the albuginea of each corpus cavernosum. We evaluated the opportunity of considering the anterior and posterior intercavernous ligaments as septal structures.

Conclusion: In this type of construction, the septum maintains both the hemodynamic and mechanical coherence of the cavernous structures and allows penile movement more efficiently than a continuous septal structure. The septum enables the lengthening of the penis and simultaneous filling with blood of both its corpora cavernosa through the transseptal vascular anastomosis. This allows for penile deformation during erection to be avoided. Our study also provides a description of the way the corpora cavernosa attach to the bulbus of corpus spongiosum.

Background: Sperm DNA fragmentation (SDF) can significantly impact male fertility, especially in cases where there is a substantial level of DNA damage. We aimed in the current study to assess seminal plasma (SP) levels of vaspin and visfatin in infertile men with an elevated SDF index (SDFI ≥ 30%) compared to infertile males with a normal SDFI (SDFI < 30%).

Results: Groups with good and medium DNA integrity exhibited significantly higher total motile sperm count and sperm motility in comparison to the group with poor DNA integrity. Significant negative correlations were noticed between SDF index (SDFI) and numerous semen parameters. Similarly, a significant negative correlation was observed between SDFI and SP vaspin. On the other hand, a significant positive correlation was found between SDFI and abnormal forms percentage. A statistically significant negative correlation was identified SP vaspin with age (r = -0.305, P = 0.006) and infertility duration (r = -0.263, P = 0.019). Statistically significant negative correlation was also identified between SP visfatin and abnormal forms percentage (r = -0.239, P = 0.034). The receiver operating characterisitic curve for predicting poor DNA integrity (SDFI ≥ 30%) revealed fair discriminative power for SP vaspin, with a cutoff value of < 0.55 ng/ml. It demonstrated a sensitivity of 58.8% and a specificity of 64.5% (area under the cureve (AUC) 0.685, p = 0.008). Meanwhile, SP visfatin had little discriminative power (AUC 0.562, p = 0.408). Finally, the results of a linear regression analysis indicated that sperm motility and SP vaspin were significant independent predictors of poor DNA integrity (SDFI ≥ 30%). The analysis was done with a 95% confidence interval and showed upper and lower bounds of -0.302 and -0.623, and -1.362 and -16.101, p < 0.001, p = 0.021, respectively.

Conclusion: SP Level of vaspin had shown promise as potential biomarkers for sperm DNA integrity. However, vaspin appeared to have greater specificity than visfatin in this point. Future studies are required to validate these findings, evaluate the role of SP vaspin in maintaining sperm DNA integrity, and investigate the potential relationship between SP adipocytokines and other clinical-demographic variables.

Background: Obstructive azoospermia commonly is caused by CBAVD(Congenital Bilateral Aplasia of the Vas Deferens), mainly due to the cystic fibrosis transmembrane conductance regulator (CFTR) and adhesion G protein-coupled receptor G2(ADGRG2) mutations. The genetic landscape for Chinese CBAVD patients is unclear, leading to debates over genetic screening, counseling, and assisted reproduction strategies. This study investigates the prevalence of CFTR and ADGRG2 mutations in a southern Chinese cohort of CBAVD patients and evaluates the impact of CFTR mutations on intracytoplasmic sperm injection (ICSI) outcomes.

Results: CFTR mutations were identified in 71.4% (30/42) of CBAVD patients, with a total of 36 CFTR mutation sites across 13 types identified, including two novel mutations. A novel ADGRG2 mutation was also detected. Betweenthe CFTR mutation-CBAVD group and the non-CBAVD OA group, a significant difference was observed only in the 2 Pronuclei(2PN) rate (79.5% vs 86.2%, P = 0.0065), while fertilization rates, pregnancy rates, miscarriage rates, and live birth rates showed no significant differences. Between the CFTR mutation-CBAVD group and the CBAVD group without CFTR mutation, there were no significant differences in fertilization rates, 2PN rates, pregnancy rates, miscarriage rates, or live birth rates.

Conclusion: Chinese CBAVD patients primarily exhibit mutations in the CFTR and ADGRG2 genes. Therefore, targeted gene testing for CFTR and ADGRG2 is more suitable compared to WES for CBAVD patients. Considering that the genetic factors of approximately 30% of CBAVD patients remain unknown, it is recommended to perform massive parallel sequencing for patients who test negative for CFTR and ADGRG2 gene screening. Despite these genetic factors, ICSI outcomes were not adversely affected, except for the 2PN rate. However, genetic counseling remains crucial for Chinese CBAVD patients before undergoing assisted reproduction.