1,720,996 research outputs found

    An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans

    No full text
    Objective: To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. Design: Case report. Setting: Regional referral center for male infertility in Siena, Italy. Patient(s): A 28-year-old man with severe asthenozoospermia. Intervention(s): Physical and hormonal assays, semen analysis, and testicular biopsy. Main Outcome Measure(s): Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. Result(s): Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. Conclusion(s): This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested

    Are F2-isoprostanes a better marker of semen lipid peroxidation than MDA in reproductive pathologies with inflammatory basis?

    Full text link
    Many male reproductive pathologies and a part of undiagnosed infertility share an oxidative stress (OS) etiology with high reactive oxygen species and cytokine concentrations. The lack of reliable biomarkers to quantify oxidative injury is a crucial problem in the field of male infertility. In this observational study, IL-1 beta and the OS markers malondialdehyde (MDA) and F-2-isoprostanes (F-2-IsoPs) were quantified in seminal plasma of 46 infertile patients with varicocele, genitourinary infections, idiopathic infertility, and 11 fertile men. Semen analysis was performed following WHO guidelines, IL-1 beta was determined by ELISA, MDA was quantified by HPLC, and F-2-IsoPs by GC/NICI-MS analysis. F-2-IsoPs were immunolocalized in spermatozoa of fertile and infertile subjects. Results indicated that F-2-IsoP, MDA, and IL-1 beta seminal levels positively correlated pairwise (p < 0.001) and showed negative correlations with sperm parameters (p < 0.001). Then, the studied population was grouped following the cause of infertility and the variables were compared between the different groups and a control sample. Seminal IL-1 beta, F-2-IsoPs, and MDA were significantly higher in varicocele (p < 0.001, for MDA p < 0.01) and genitourinary infections (p < 0.001, for IL-1 beta p < 0.01) groups than those observed in fertile subjects. F-2-IsoPs seemed to discriminate more accurately than MDA the different conditions, in particular idiopathic infertility. ROC curves demonstrated that the three analyzed indices were able to discriminate fertile and infertile patients. The immunofluorescence studies showed a low presence of F-2-IsoPs in spermatozoa of fertile men and an evident labeling in the tail, and cytoplasmic residues of spermatozoa from infertile patients. In conclusion, this data confirmed that F-2-IsoP level is a suitable marker of OS in seminal plasma, even more accurate than MDA and can be proposed for measuring OS in the clinical setting. © 2025 The Author

    Chromosomal Aberrations and aneuploidies of Spermatozoa

    No full text
    Chromosomal abnormalities are relevant causes of human infertility, affecting 2 -14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility. In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported. Among control males, the lowest aneuploidy rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE. Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males. © 2014 Springer Science+Business Media New York
    corecore