Asian journal of andrology最新文献

{"title":"Novel biallelic CFAP43 mutations induce MMAF with mitochondrial abnormalities and successful ICSI outcomes.","authors":"Qi Chen, Jie Yang, Sheng-Jia Shi, Shao-Chun Wu, Huan Ren, Yu Xue, Xing-Zhe Ji, Man Yu, He Cai, Juan-Zi Shi, Sen Qiao","doi":"10.4103/aja202565","DOIUrl":"10.4103/aja202565","url":null,"abstract":"<p><p>Multiple morphological abnormalities of sperm flagellum (MMAF) is a rare cause of primary infertility. Genetic variants in cilia- and flagella-associated protein 43 ( CFAP43 ) are associated with asthenoteratospermia and MMAF; however, the detailed pathogenic mechanisms are still to be completely elucidated. Here, we identified novel compound heterozygous mutations in CFAP43 , c.1859_1860+8delinsGT, and c.3071A>G (p.N1024S), by whole-exome sequencing (WES). The proband had a typical MMAF phenotype; Sanger sequencing confirmed these mutations and showed that they cosegregated within the family. Further analysis of the patient's sperm samples indicated that the CFAP43 mutations result in aberrant RNA splicing. Additionally, we observed disturbance and partial deletion of the mitochondrial sheath, along with a significant reduction in translocase of outer mitochondrial membrane 20 (TOM20) expression. This study suggests that infertility associated with CFAP43 loss of function may be linked to mitochondrial dysfunction. Finally, assisted reproductive technology using intracytoplasmic sperm injection (ICSI) resulted in a successful pregnancy and live birth. Our study expands the spectrum of pathogenic CFAP43 mutations and provides valuable insights for genetic counseling and personalized reproductive strategies in patients with MMAF.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"327-334"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146000175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prognostic significance of prostate-specific antigen dynamics during abiraterone therapy in patients with high-risk metastatic hormone-sensitive prostate cancer.","authors":"Qian Wang, Ming Zhang, Qi-Yu Zhu, Hong Zeng, Jin-Dong Dai, Ke Huang, Si-Cheng Wan, Yi-Fu Shi, Xing-Ming Zhang, Hao Zeng, Peng-Fei Shen","doi":"10.4103/aja202520","DOIUrl":"10.4103/aja202520","url":null,"abstract":"<p><p>To evaluate the prognostic significance of prostate-specific antigen (PSA) decline depth and duration in patients with high-risk metastatic hormone-sensitive prostate cancer (mHSPC) undergoing abiraterone treatment. We retrospectively analyzed data from 153 high-risk patients with mHSPC receiving first-line abiraterone therapy. Patients were stratified based on PSA dynamics during treatment. Kaplan-Meier survival analysis and Cox proportional hazards regression were used to assess the associations between PSA decline patterns, PSA progression-free survival (PSA-PFS), radiographic PFS (rPFS), and overall survival (OS). Among the 153 patients, 85 exhibited PSA nadir <0.2 ng ml -1 , 48 had PSA nadir level ranging from 0.2 ng ml -1 to 4 ng ml -1 , and 20 presented with a PSA nadir >4 ng ml -1 . During abiraterone treatment, PSA nadir <0.2 ng ml -1 was significantly associated with improved median PSA-PFS (51.0 months vs 18.5 months vs 6.9 months, P < 0.0001), median rPFS (52.0 months vs 24.3 months vs 10.3 months, P < 0.0001), and median OS (not reached vs 48.5 months vs 28.1 months, P < 0.0001) compared with PSA nadir ≥0.2 ng ml -1 and <4 ng ml -1 , and PSA nadir ≥4 ng ml -1 . In the cohort with PSA nadir <0.2 ng ml -1 , achieving PSA <0.2 ng ml -1 within 6 months and maintaining this level for over 10 months significantly enhanced clinical outcomes, as evidenced by median PSA-PFS (not reached vs 26.9 months, P < 0.0001), median rPFS (not reached vs 27.5 months, P < 0.0001), and median OS (not reached vs 44.4 months, P < 0.0001). Cox regression analysis revealed that achieving PSA <0.2 ng ml -1 within 6 months post-treatment and sustaining this level for over 10 months are independent prognostic factors. In high-risk patients with mHSPC receiving first-line abiraterone, sustained PSA suppression is a key indicator of therapeutic response. The rate, depth, and duration of PSA decline are critical prognostic factors.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"304-309"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145936745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of semen quality and maternal age on blastocyst chromosomal abnormalities: a retrospective cohort study based on 1091 PGT-A cycles.","authors":"Yang Zou, Xin Xu, Hong-Qiang Xie, Ming Gao, Xiao-Wei Liu, Li-Juan Wang, Cheng Li, Tao Jing, Xuan Gao, Jun-Hao Yan, Zi-Jiang Chen, Yuan Gao","doi":"10.4103/aja202560","DOIUrl":"10.4103/aja202560","url":null,"abstract":"<p><p>In this study, we aimed to investigate the influence of paternal oligozoospermia (OZ), asthenozoospermia (AZ), or teratozoospermia (TZ) on blastocyst ploidy and its potential interaction with maternal age. We analyzed 3383 embryos in 1091 preimplantation genetic testing for aneuploidy (PGT-A) cycles via next-generation sequencing (NGS) at the Center for Reproductive Medicine, Shandong University (Jinan, China). Our findings revealed that compared to the normozoospermic (NZ) group, the AZ group exhibited significantly lower euploidy rates ( P = 0.022). This effect was more pronounced in cases with advanced maternal age (AMA; ≥38 years), where AZ patients had markedly reduced euploidy rates ( P = 0.003), while no significant differences were observed in younger women (<38 years). Multivariate analysis, adjusting for parental age and body mass index (BMI), confirmed that AZ is an independent risk factor for reduced euploidy rates in the AMA subgroup. Notably, OZ and TZ cases showed no significant association with blastocyst ploidy rates. These results suggest that only in cases of advanced maternal age, impaired sperm motility adversely affect blastocyst euploidy rates.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"246-251"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145960945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of gene variants in 30 patients from southeastern China with severe hypospadias by whole-exome sequencing.","authors":"Wen-Hua Huang, Qian-Qian Tan, Wei Zeng, Hai-Gen Wang, Xun Cui, En-Hui Wang, Yong Zhou, Wen-Hao Ni, Chao-Ming Zhou","doi":"10.4103/aja202583","DOIUrl":"10.4103/aja202583","url":null,"abstract":"<p><p>Hypospadias is a common congenital malformation of the male external genitalia, with severe cases presenting considerable surgical and long-term challenges. Despite the clinical importance of severe hypospadias demonstrated by prolonged hospital stays, repeated surgeries, and substantial costs, the genetic etiology of severe hypospadias remains incompletely understood, particularly in diverse populations. To determine the molecular basis, we performed whole-exome sequencing (WES) on 30 Chinese patients from southeastern China with confirmed 46,XY karyotypes. Our analysis identified clinically relevant genetic variants, including single-nucleotide variants (SNVs) and copy number variations (CNVs), with subsequent phenotypic correlation. Clinically relevant genetic variants were identified in 33.3% (10/30) of cases, including novel SNVs in gonadal regulators (nuclear receptor subfamily 5 group A member 1 [ NR5A1 ] c.1344dupC/c.244+1G>T and SRY-box 3 [ SOX3 ] c.1273G>C), morphogenetic modulators (GLI family zinc finger 3 [ GLI3 ] c.4731delA and aristaless-related homeobox [m ARX ] c.644C>G), and syndromic genes (patched domain containing 1 [ PTCHD1 ] c.667G>A and euchromatic histone lysine methyltransferase 1 [ EHMT1 ] c.3081C>T). Additionally, recurrent CNVs at 22q12.3 and a novel CNV exon 18 deletion in myelin regulatory factor ( MYRF ) and 18q11.2 were identified. Mutation carriers showed a significantly higher frequency of cryptorchidism (40.0% vs 5.0%, P < 0.01) and a higher prevalence of ≥3 associated malformations (80.0% vs 35.0%, P < 0.05) than non-carriers, highlighting genotype-phenotype correlations. The 33.3% diagnostic yield tripled conventional estimates, demonstrating WES efficacy in identifying SNVs and CNVs in severe phenotypes. These findings reveal the genetic heterogeneity of severe hypospadias and support WES utility in uncovering novel variants and structural genomic alterations.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"276-283"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phytochemical-based nanomedicine as a promising therapeutic strategy for erectile dysfunction.","authors":"Rakesh Bhaskar, Sung Soo Han","doi":"10.4103/aja202570","DOIUrl":"10.4103/aja202570","url":null,"abstract":"<p><p>Erectile dysfunction (ED) is a common condition among aging men, often associated with metabolic disorders, diabetes mellitus, hypertension, oligozoospermia, cardiovascular disease, sedentary lifestyles, chronic infections, and inflammation. A major therapeutic challenge is the inefficient delivery of drugs to penile smooth muscle tissue. Moreover, synthetic pharmacological treatments frequently cause adverse effects, including off-target interactions and risks to vital organs, especially the heart. As a result, there is growing interest in phytochemicals derived from medicinal plants, which offer natural, cost-effective, and less toxic alternatives. Numerous preclinical and clinical studies have shown that phytochemicals support muscle function through antioxidant and anti-inflammatory properties, modulation of the phosphodiesterase type 5 (PDE5) pathway, and hormone regulation. This review highlights the potential of combining phytochemicals with nanotechnology to develop safer and more effective treatments for penile tissue disorders. We also examine nanomedicine delivery systems such as liposomes, nanoemulsions, and dendrimers that enhance the bioavailability, targeted delivery, and controlled release of these compounds. Overall, this review underscores the promise of phytochemical-based nanomedicine in improving therapies for penile smooth muscle dysfunction.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"230-239"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No difference in ICSI outcomes from cryopreserved testicular spermatozoa from patients with azoospermia or cryptozoospermia.","authors":"Jin-Yan Xu, Ding-Ming Li, Bo Liu, Sha-Sha Liu, Xue-Feng Luo, Chen Luo, Wen-Rui Zhao, Yuan Liu, Li-Juan Ying, Yang Xian, Fu-Ping Li","doi":"10.4103/aja202592","DOIUrl":"10.4103/aja202592","url":null,"abstract":"<p><p>Intracytoplasmic sperm injection (ICSI) with cryopreserved testicular spermatozoa retrieved via testicular sperm aspiration (TESA) or microdissection testicular sperm extraction (micro-TESE) is an effective treatment for azoospermia and cryptozoospermia. The current research on testicular sperm cryopreservation has primarily focused on comparing ICSI outcomes between fresh and frozen-thawed testicular spermatozoa. Another focus of these researches is evaluating treatment efficacy differences between ICSI using spermatozoa from patients with obstructive azoospermia (OA) versus non-obstructive azoospermia (NOA). However, few studies have investigated ICSI outcomes among patients with OA, NOA, and cryptozoospermia. This retrospective cohort study analyzed the data from 688 patients at Sichuan Human Sperm Bank (Chengdu, China) between September 2021 and April 2024, comparing cryopreservation efficacy, sperm utilization rate, ICSI outcomes, and delivery outcomes of cryopreserved testicular sperm suspensions in OA group ( n = 542), NOA group ( n = 114), and cryptozoospermia group ( n = 32). Post-thaw analysis revealed that the median sperm viability before and after freezing, as well as the viability ratio, did not differ among the three groups (all P > 0.05). Sperm utilization in NOA group (60.5%) was significantly higher (both P < 0.0001) compared with cryptozoospermia group (31.3%) and OA group (19.9%), while no significant difference was found between OA and cryptozoospermia groups ( P > 0.05). Of 162 couples undergoing ICSI, there were no differences in fertilization, clinical pregnancy, delivery, and miscarriage rates among patients with OA, NOA, and cryptozoospermia (all P > 0.05). In the cryptozoospermia group with five newborns, all were full-term with normal birth weights, but this group had the highest maternal pregnancy complication rate.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"321-326"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147346077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methamphetamine-induced inhibition of Mettl21c in undifferentiated spermatogonia impairs male fertility in mice.","authors":"Xue-Heng Zhao, Dai Zhou, Shuang Lu, Wei-Tao Yan, Li-Qing Fan","doi":"10.4103/aja202558","DOIUrl":"10.4103/aja202558","url":null,"abstract":"<p><p>Chronic methamphetamine (Meth) exposure has been recognized as a critical risk factor for male reproductive dysfunction, yet its mechanistic underpinnings remain elusive. This study elucidates the molecular pathways through which Meth compromises spermatogenesis in a murine model. Male mice subjected to 15 days of chronic Meth administration presented severe testicular atrophy, characterized by seminiferous epithelial disorganization and diminished sperm reserves in both the testes and epididymides. Quantitative assessments revealed marked reductions in sperm motility and increased tail abnormalities. Transcriptomic profiling revealed significant down-regulation of methyltransferase-like 21C ( Mettl21c ), an undifferentiated spermatogonial-enriched methyltransferase, within pathways governing germ cell differentiation. Immunofluorescence analysis revealed predominant Mettl21c colocalization with undifferentiated spermatogonial marker ubiquitin carboxyl-terminal hydrolase L1 (Uchl1), with minimal overlap in tyrosine-protein kinase Kit (Kit) positive differentiated populations. In vitro suppression of Mettl21c in C18-4 lines triggered proliferation arrest and increased apoptosis. These findings establish Mettl21c as a pivotal mediator of Meth-induced spermatogenic failure through spermatogonial maintenance pathways. Our work provides novel insights into the epigenetic regulation of drug-associated male infertility and identifies Mettl21c as a potential therapeutic target for preserving fertility in substance abuse cases.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"267-275"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145961084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring better methods for treating urethral stricture caused by lichen sclerosus.","authors":"Jia-Qi An, Jian-Wei Wang","doi":"10.4103/aja202597","DOIUrl":"10.4103/aja202597","url":null,"abstract":"<p><p>Lichen sclerosus (LS) is a chronic inflammatory dermatosis significantly associated with urethral stricture disease (USD), particularly affecting the genitalia in both sexes. While topical corticosteroids remain the first-line therapy for LS, their efficacy for deep urethral involvement is limited. Surgical intervention, primarily urethroplasty utilizing buccal mucosa grafts or lingual mucosa grafts, is often required for LS-associated USD but is associated with risks of recurrence and complications. This review explores the etiology, highlighting the roles of immune dysregulation, genetic factors, and the resulting fibrosis. Furthermore, we emphasize the emerging potential of urethral tissue engineering, which uses scaffolds seeded with progenitor or stem cells, as a promising approach for reconstructing complex LS-related strictures, although clinical translation remains limited. Future research should focus on optimizing tissue engineering solutions.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"240-245"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146055119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are men aware of normal penile length and sexual function? A narrative review of the literature.","authors":"Yoonus Faizal, Winston Wu, Vincent Chan, Glenn Duns, Kathryn M Schubach, Darren J Katz","doi":"10.4103/aja202572","DOIUrl":"10.4103/aja202572","url":null,"abstract":"<p><p>Men frequently present to their health practitioners with concerns that they are not \"normal\" in the domains of sexual anatomy and function. This narrative review aims to synthesize the existing evidence on the general male population's perception of normative sexual anatomy (penile length) and function (erectile and ejaculatory function). A structured literature search was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, limited to English language studies that involved adult participants from non-medical backgrounds. Of the 1098 studies identified, only seven met the predefined inclusion and exclusion criteria, indicating an insufficiency in research directly addressing men's perceptions of normative sexual anatomy and function. The studies included in this review found that there was an inaccurate understanding of what empirically constitutes \"normal\". Men considered above-average penis lengths to be common and perceived themselves as \"small\" despite being within the normal range. They tended to overestimate typical intercourse durations and were inaccurate in self-diagnosing ejaculatory dysfunction and erectile dysfunction. The inability to differentiate normal and abnormal sexual function reflects a poor understanding of what constitutes normal. These findings may inform future research and provide guidance for educating clinicians and the public to improve sexual health.</p>","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"223-229"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seasonal Gleason scores: compelling observations amid methodological complexity.","authors":"Raeesa Islam, David M Golombos, Saum Ghodoussipour","doi":"10.4103/aja202579","DOIUrl":"10.4103/aja202579","url":null,"abstract":"","PeriodicalId":93889,"journal":{"name":"Asian journal of andrology","volume":" ","pages":"343"},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146208473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}