Asian journal of andrology最新文献

This study evaluated technicians' ability to identify sperm morphology via external quality assessment (EQA) and identified challenging defect types causing significant interparticipant discrepancies. A longitudinal study was conducted from 2019 to 2024 to assess the ability of technicians at various laboratories to identify sperm morphology using standardized EQA protocols and distributed sperm images. Morphological classification was performed using the criteria of the World Health Organization, 6th edition. Correct identification rates, participant pass rates, and defect-specific accuracy rates were statistically analyzed. The overall correct identification rate (mean ± standard deviation [s.d.]) was 81.3% ± 27.0%, while the correct identification rate of normal sperm morphology (mean ± s.d.) was only 51.1% ± 25.5%. Although the overall correct identification rate of abnormal sperm morphology (mean ± s.d.) was as high as 96.1% ± 8.9%, the overall correct identification rate across all defect categories (mean ± s.d.) was only 60.2% ± 21.7%. The identification of sperm head defects was the most challenging, with a correct identification rate (mean ± s.d.) of only 57.0% ± 20.7%, while the correct identification rate of sperm tail defects (mean ± s.d.) was the highest at 70.5% ± 23.5%. Among sperm head defects, the correct identification rate of head size defects (mean ± s.d.) was the lowest at 53.4% ± 22.0%. Laboratories that participated for 5 consecutive years showed significant improvements in total and normal morphology scores. Image-based EQA effectively assesses the technicians' competency and serves as an educational tool. Normal sperm morphology evaluation should avoid overly strict criteria, while abnormal sperm morphology assessment requires enhanced focus on specific defect types.

Infertility is a global concern, and oligoasthenoteratozoospermia (OAT) is the most severe form of male infertility, characterized by reduced sperm count, decreased motility, and increased abnormal morphology. Multiple morphological abnormalities of the sperm flagella (MMAF) characterize the most severe type of OAT and are usually caused by loss-of-function mutations in the genes essential for vital aspects of sperm biology, including concentration, motility, and morphology. The fibrous sheath interacting protein 2 (FSIP2) plays an essential role in sperm flagellar structure and function by regulating such processes as intraflagellar transport and acrosome formation. The present study, employing whole-exome sequencing (WES), identified two FSIP2 mutations in one patient (patient 1), a homozygous missense (c.262C>A, p.P88T) and a homozygous frameshift mutation (c.10948_10951del, p.N3653Nfs*22), as well as a homozygous FSIP2 frameshift mutation (c.15982_15982del, p.I5328Lfs*33) in another patient (patient 2). The results of bioinformatics analysis indicate that the identified missense mutation (c.262C>A) is rare and predicted to have a deleterious effect on FSIP2. Transmission electron microscopy analysis of sperm revealed several abnormalities, including a disorganized mitochondrial sheath, absence of the central pair and some doublets of microtubules, and significant dysplasia of the fibrous sheath. Reverse transcription-polymerase chain reaction (RT-PCR) indicated significantly reduced FSIP2 messenger RNA (mRNA) levels in sperm lysate of the affected individuals. Immunofluorescence staining revealed a complete absence of FSIP2, A-kinase anchor protein 4 (AKAP4), sperm-associated antigen 6 (SPAG6), intraflagellar transport 20 (IFT20) and actin-like 7A (ACTL7A) proteins in the spermatozoa of patients. Thus, the novel FSIP2 variants identified in patient 1 and patient 2 are recognized as pathogenic mutations responsible for MMAF, providing valuable insights for genetic counseling and reproductive decision-making in affected males.

Cryptorchidism is recognized as a significant risk factor for male germ cell tumors and infertility, with a complex and multifaceted mechanism contributing to male infertility. When the testes fail to descend into the scrotum, increased local temperature and pressure lead to increased apoptosis of spermatogenic and Sertoli cells. Additionally, disruptions in the hypothalamic-pituitary-gonadal axis result in decreased testosterone levels within the testes, and abnormal secretion of follicle-stimulating hormone and luteinizing hormone, negatively impacting spermatogenesis. Cryptorchidism also induces increased oxidative stress within the testes, leading to sperm DNA damage and impairment of the sperm plasma membrane, hindering sperm-oocyte fusion. Unilateral cryptorchidism may cause injury to the ipsilateral genitofemoral nerve, further affecting the contralateral testis by increasing oxidative stress and apoptosis. Moreover, the production of antisperm antibodies can trigger autoimmune responses, potentially damaging germ cells and contributing to infertility. Damage to type A dark spermatogonia (type Ad spermatogonia) is also considered a high-risk factor for male infertility. Understanding the mechanisms by which cryptorchidism leads to male infertility may provide new avenues for enhancing fertility in affected patients.

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.

Sickle cell disease (SCD) is one of the most common hereditary diseases in the world. It leads to hemolytic anemia and painful vaso-occlusive crises that can damage target organs at the cardiopulmonary, cerebrovascular, and renal levels. SCD has also significant consequences on reproductive functions and fertility. Moreover, the treatments designed to alleviate and reduce vaso-occlusive crises directly impact male reproductive functions. Nevertheless, literature assessing the impact of SCD and its treatments on male reproductive functions remains limited and lacks robust evidence. A systematic review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) recommendation was carried out on the reproductive functions of men with SCD and the reproductive options available to them. Most studies have found that men with SCD frequently exhibit impaired sperm parameters. In addition, hydroxyurea (HU), proposed to relieve and reduce vaso-occlusive crises, is also known to impact male reproductive functions, and the reversibility of these consequences on sperm parameters remains hypothetical. Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. However, conditioning treatments are highly gonadotoxic and can permanently alter spermatogenesis. Young men with SCD should therefore be informed about fertility at an early stage, and fertility preservation should be discussed in pubescent men, especially if treatment with HU or HSCT is to be initiated. In prepubertal boys about to undergo HSCT, immature testicular tissue freezing should be discussed, even though this technique is still experimental.

Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor ( AR ) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus. The aim of this study was to investigate the relationship between genotype and phenotype, surgical treatments, and complications of AIS patients. We retrospectively evaluated the medical records of patients who were diagnosed with AIS after genetic testing and underwent initial surgery at Beijing Children's Hospital, Capital Medical University (Beijing, China), from August 2007 to August 2023. A total of 46 patients were included in this study. Four novel variants, p.Y572S, p.L57dup, p.L882del, and p.V888A, were identified. AR variants are concentrated in the ligand-binding domain (LBD) region (60.9%) and are predominantly missense mutations (78.3%). There was no significant difference in the phenotypes between the LBD group and the non-LBD group ( P > 0.05). Nonsense or frameshift mutations may accompany more severe phenotypes or complete androgen insensitivity syndrome (CAIS; P = 0.011). For CAIS patients with inguinal hernias, we recommend that hernia ligation surgery should be performed during childhood and that gonadectomy should be considered during adolescence or postadolescence. Preoperative hormone stimulation (PHS) had a positive effect on penile growth ( P = 0.0014). Compared with patients with severe hypospadias, those patients with partial androgen insensitivity syndrome (PAIS) experience fewer complications from urethroplasty. If the conditions for a one-stage operation are not adequately met, it is advisable to perform staged surgery.

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.