Asian journal of andrology最新文献

Abstract: Individuals with congenital absence of the vas deferens (CAVD) may transmit cystic fibrosis (CF)-causing variants of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene to their offspring through assisted reproductive technology (ART). We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis. CFTR was sequenced in 145 Chinese individuals with CAVD. CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance. A comprehensive genotype analysis was performed in Chinese individuals with CAVD, incorporating previous studies and our study cohort. The prevalence of CF-causing variants was estimated through meta-analysis. In our cohort, 56 different CFTR variants were identified in 108 (74.5%) patients. Twenty variants were categorized as CF-causing and were detected in 28 (19.3%) patients. A comprehensive genotype analysis of 867 patients identified 174 different CFTR variants. Sixty-four were classified as CF-causing variants, 56.3% of which had not been previously reported in Chinese patients with CF. Meta-analysis showed that 14.8% (95% confidence interval [CI]: 11.0%-18.9%) CAVD cases harbored one CF-causing variant, and 68.6% (95% CI: 65.1%-72.0%) CAVD cases carried at least one CFTR variant. Our study underscores the urgent need for extensive CFTR screening, including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants, in Chinese individuals with CAVD before undergoing ART. The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.

The management of data from computer-aided sperm analysis (CASA) systems is crucial for understanding sperm motility. CASA systems generate motility parameters derived from tracking individual sperm cells, producing raw data as spermatozoa coordinates, which form the basis for sperm trajectory construction. These parameters and trajectories allow statistical descriptions of motility and identification of sperm heterogeneity. The substantial information provided by CASA enables the application of artificial intelligence (AI) techniques to interpret their biological significance. However, the type and format of CASA data, whether raw or condensed, pose challenges for analysis using conventional statistical methods. Advances in machine learning and deep learning have addressed these limitations by leveraging motility parameters and trajectory representations for automated classification and clustering of motility patterns. These methods, including supervised and unsupervised learning, have been employed to identify kinematic subpopulations within sperm samples, offering deeper insights into sperm dynamics. Open-source tools and CASA systems have facilitated this progress by providing accessible platforms for AI applications in sperm motility analysis. Although the use of machine learning in this field remains limited, integrating CASA-derived data with AI techniques shows potential for automating sperm classification and identifying motility patterns, advancing reproductive biology and fertility assessments. This work reviews the traditional use of CASA data, the analytical constraints, and the promising role of machine learning in enhancing the understanding of the heterogeneity of sperm kinematics.

Recent studies have begun to investigate the metabolic and microbiota profiles in semen, yet their association with abnormal sperm morphology, particularly in teratozoospermia, remains insufficiently characterized. Identifying specific metabolites and microbial taxa linked to this condition could improve diagnostics and management for male infertility. This study analyzed semen samples from 231 patients, including 30 patients with teratozoospermia and 30 patients with normal sperm morphology, collected over four seasons in Chongqing, China. Metabolomic profiling by gas chromatography-mass spectrometry (GC-MS) and microbiota composition analysis via 16S ribosomal ribonucleic acid (rRNA) sequencing revealed distinct seasonal metabolomic shifts, with significant changes in summer and autumn. After excluding seasonally affected metabolites, 14 key metabolites were associated with teratozoospermia, including reduced levels of 4-hydroxyphenylpyruvic acid, phenylpyruvic acid, and N-acetyl-L-aspartic acid. These metabolites are involved in pathways related to oxidative stress and energy metabolism in spermatozoa, suggesting that their depletion may contribute to sperm abnormalities. Proteobacteria, Firmicutes, and Actinobacteriota were predominant phyla across all seasons and groups, but significant genus-level fluctuations, such as Acinetobacter and Staphylococcus, were observed. In teratozoospermia, genera such as Lactobacillus and Limnochordaceae showed differential abundance, correlating with key metabolites and suggesting potential functional interactions. Limnochordaceae showed a significant positive correlation with undecanoic acid, whereas Lactobacillus showed a negative correlation. These findings highlight that while seasonal changes significantly influence semen metabolomics and microbiota composition, teratozoospermia is characterized by specific, season-independent metabolic and microbial signatures. Our study provides insights into the metabolic and microbial dynamics of semen, suggesting the possibility of developing novel diagnostic tools and therapeutic strategies for male infertility.

Abstract: The circadian clock is strongly influenced by the sun exposure and prostate cancer has been shown to be inversely proportional to it. We investigated whether PCa aggressiveness in Montreal, Quebec, Canada, differs over the months during or following potentially longer exposure to sunlight. We analyzed 3447 patients treated between January 1995 and December 2023 with primary radiotherapy for localized PCa. We investigated whether the month when diagnostic biopsy was performed was associated with a more frequent diagnosis of a primary Gleason score (pGS) of 4 or 5. We grouped the months of biopsy into the four quarters (Q1-4) of the year. Multivariable logistic regression was used to predict a pGS of 4 or 5, adjusted for age and year of biopsy. There were significantly fewer biopsies (P = 0.027) with pGS 4 or 5 in the last 3 months of the year (Q4; 19.0%) than those in Q1-3 (22.9%). Age, prostate-specific antigen (PSA) level, and the number of positive biopsies were not significantly different between Q4 versus Q1-3. In multivariate logistic regression analysis, a biopsy in Q4 was significantly predictive of a lower risk of pGS 4 or 5 (odds ratio [OR]: 0.77, 95% confidence interval [CI]: 0.63-0.93, P = 0.007), as was older age (P < 0.001), but not the year of biopsy (P = 0.76). In conclusion, patients biopsied during Q4 had a 23% lower risk of a pGS 4 or 5 on diagnostic biopsy than those biopsied during the previous 9 months. Our results are not a proof of causality.

Abstract: Isolated male epispadias typically presents with preputial defects and dorsal urethral dehiscence. A less common subtype, known as concealed epispadias, is distinguished by an intact prepuce. Despite its clinical relevance, there is limited literature on this variant. In this study, we retrospectively analyzed the clinical data of 86 pediatric patients with isolated male epispadias treated in Beijing Children's Hospital (Beijing, China) from May 2004 to July 2023, including 19 cases of concealed epispadias and 67 of nonconcealed epispadias. We compared clinical characteristics, preoperative diagnostics, surgical techniques, postoperative outcomes, and sexual function during follow-up between the concealed and nonconcealed groups. No significant differences were observed between the two groups regarding surgical methods, postoperative complications, or rates of urinary incontinence. However, notable distinctions were found in the age at initial diagnosis, timing of surgery, frequency of incontinence, location of the urethral meatus, and postoperative urinary incontinence scores (all P < 0.05). Given the absence of penopubic epispadias in concealed cases, we categorized glans and penile epispadias within nonconcealed epispadias as distal epispadias ( n = 40) and subsequently compared them with concealed epispadias cases. The postoperative urinary incontinence scores did not differ significantly between the concealed and distal epispadias groups. These findings suggest that concealed epispadias represents a relatively milder form of the condition, characterized by the absence of penopubic involvement, lower rates of urinary incontinence, and favorable surgical outcomes. However, the intact prepuce in concealed cases underscores the need for careful identification and early diagnosis.

Abstract: The aim of this investigation was to determine the optimal storage medium for testicular hypothermic transportation and identify the ideal concentration for the application of the protective agent 5-aminolevulinic acid (5-ALA). Furthermore, this study aimed to explore the underlying mechanism of the protective effects of 5-ALA. First, we collected and stored mouse testicular fragments in different media, including Hank's balanced salt solution (HBSS; n = 5), Dulbecco's Modified Eagle Medium/Nutrient Mixture F-12 (DMEM/F12; n = 5), and alpha-minimum essential medium (αMEM; n = 5). Storage of testicular tissue in HBSS preserved the integrity of testicular morphology better than that in the DMEM/F12 group ( P < 0.05) and the αMEM group ( P < 0.01). Testicular fragments were subsequently placed in HBSS with various concentrations of 5-ALA (0 [control], 1 mmol l -1 , 2 mmol l -1 , and 5 mmol l -1 ) to determine the most effective concentration of 5-ALA. The 2 mmol l -1 5-ALA group ( n = 3) presented the highest positive rate of spermatogonial stem cells compared with those in the control, 1 mmol l -1 , and 5 mmol l -1 5-ALA groups. Finally, the tissue fragments were preserved in HBSS with control ( n = 3) and 2 mmol l -1 5-ALA ( n = 3) under low-temperature conditions. A comparative analysis was performed against fresh testes ( n = 3) to elucidate the underlying mechanism of 5-ALA. Gene set enrichment analysis (GSEA) for WikiPathways revealed that the p38 mitogen-activated protein kinase (MAPK) signaling pathway was downregulated in the 2 mmol l -1 5-ALA group compared with that in the control group (normalized enrichment score [NES] = -1.57, false discovery rate [FDR] = 0.229, and P = 0.019). In conclusion, these data suggest that using 2 mmol l -1 5-ALA in HBSS effectively protected the viability of spermatogonial stem cells upon hypothermic transportation.

Abstract: The choice of biopsy method is critical in diagnosing prostate cancer (PCa). This retrospective cohort study compared systematic biopsy (SB) or cognitive fusion-targeted biopsy combined with SB (CB) in detecting PCa and clinically significant prostate cancer (csPCa). Data from 2572 men who underwent either SB or CB in Fudan University Shanghai Cancer Center (Shanghai, China) between January 2019 and December 2023 were analyzed. Propensity score matching (PSM) was used to balance baseline characteristics, and detection rates were compared before and after PSM. Subgroup analyses based on prostate-specific antigen (PSA) levels and Prostate Imaging-Reporting and Data System (PI-RADS) scores were performed. Primary and secondary outcomes were the detection rates of PCa and csPCa, respectively. Of 2572 men, 1778 were included in the PSM analysis. Before PSM, CB had higher detection rates for both PCa (62.9% vs 52.4%, odds ratio [OR]: 1.54, P < 0.001) and csPCa (54.9% vs 43.3%, OR: 1.60, P < 0.001) compared to SB. After PSM, CB remained superior in detecting PCa (63.1% vs 47.9%, OR: 1.86, P < 0.001) and csPCa (55.0% vs 38.2%, OR: 1.98, P < 0.001). In patients with PSA 4-12 ng ml -1 (>4 ng ml -1 and ≤12 ng ml -1 , which is also applicable to the following text), CB detected more PCa (59.8% vs 40.7%, OR: 2.17, P < 0.001) and csPCa (48.1% vs 27.7%, OR: 2.42, P < 0.001). CB also showed superior csPCa detection in those with PI-RADS 3 lesions (32.1% vs 18.0%, OR: 2.15, P = 0.038). Overall, CB significantly improves PCa and csPCa detection, especially in patients with PSA 4-12 ng ml -1 or PI-RADS 3 lesions.

Abstract: Testosterone affects several organs in the body and is very important for male well-being. Aging men with late-onset hypogonadism (LOH) experience physiologic, psychiatric, and sexual symptoms related to a decline in the serum concentration of testosterone with age. However, it is well-known that the extent of the decline in testosterone concentration does not correlate with the severity of LOH-related symptoms. Therefore, it is difficult to diagnose and treat patients with LOH. In addition, the symptoms, response to testosterone replacement therapy (TRT), and medical insurance coverage differ among ethnicities and countries. The evaluation of testosterone is essential for the diagnosis and treatment of LOH. The effects of testosterone are determined not only by the serum testosterone concentration but also by the androgen receptor sensitivity. A low number of glutamine repeats is indicative of high androgenic activity, and the number shows ethnicity-related differences (fewer in African American than in Caucasian people and more in East Asian people). The diagnosis of LOH is typically made using subjective symptoms and the serum testosterone concentration. The Aging Male Symptoms scale is widely used to evaluate the symptoms. The normal range of total testosterone concentration varies around the world; therefore, clinicians should follow the guidelines of their regional academic society. The principal treatment for LOH is TRT. There are many types of TRT and other treatment strategies are also available. Thus, physicians should treat LOH according to each patient's situation, considering related disorders, such as diabetes, osteoporosis, metabolic syndrome, and depression.