Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia
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Abstract:
Among causes of infertility, teratozoospermia is characterised by a percentage of morphologically abnormal spermatozoa >4%. Macrozoospermia, one form of monomorphic teratozoospermia, is observed in <1% of cases of male infertility and is described as approximately 100% large-headed and/or multitailed spermatozoa. This study reports that an infertile man with large-head spermatozoa presenting compound heterozygosity aurora kinase C (AURKC) mutations (c.382C>T, c.572C>T) by whole-exome sequencing. Consequently, both two novel AURKC mutations had high probability of damage-causing and conserved across species and extremely low allele frequency in the population. Flow cytometry analysis revealed a high ratio of sperm DNA fragmentation. Two intracytoplasmic sperm injection (ICSI) procedures were attempted for the patient, but all were unsuccessful. These results indicate that sequence analysis should be performed for the variants of AURKC in Chinese patients with macrozoospermia.Keywords:
Semen Analysis
One of the main factors affecting male infertility is DNA fragmentation in sperm. Male infertility is a heterogeneous group of disorders, known causes account for only 30-50%, and unknown cause (idiopathic) constitute the rest. Infertility involves nearly 15% of couples in the reproductive age, and only the male problem involves about 40% of the problems.We have studied our DNA damage to sperm cells of a group of infertile males (113 patients) with abnormal sperm parameters (oligoasthenospermia and oligospermia) and a group of male patients (80 patients) with normal semen parameters (normospermia) to document whether the Sperm Chromatin Dispersion (SCD) analysis could increase the information obtained from the sperm routine analysis to explain the causes of infertility.A group of 193 patients were analysed, 113 patients in the working group and 80 patients in the control group were screened. The ejaculate samples were taken by the patient to whom the reason for the analysis was explained. All patients were from the Republic of Kosovo. Samples are collected from 2014/2018. Sperm Chromatin Dispersion (SCD) analyses in the ejaculate were analysed by the Biolab Zafi laboratory in Peja.Clinical data were compared between the two groups by one-way ANOVA, mean ± SD, student's t-test. A p-value of less than P < 0.05% was considered statistically significant. Outcomes: In our study, we have gained significant (P < 0.05) results in the workgroup and the control group across all hormonal parameters, sperm parameters, and fragmented DNA in the sperm.Based on our obtained results we can conclude that DNA fragmentation in spermatozoa is useful in the selection of unsuitable DNA sperm for use in ART methods. We conclude that our DNA fragmentation analysis results are encouraging and can be used for diagnostic purposes in determining male infertility.
Oligospermia
Semen Analysis
Sperm bank
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Numerous cases of men infertility are caused by sperm DNA damage, which routine semen quality examines fail to identify. Aim: To evaluate the relationship between sperm fragmentation index with semen parameters, age, Body Mass Index, smoking and infertility duration. Materials and Methods: A total of 88 cases underwent routine semen analysis along with sperm fragmentation index using the Sperm Chromatin Dispersion Test. Sperm parameters were evaluated according to the World Health Organization guidelines. Results: This study indicated that 64% of males had high DNA fragmentation. No correlation was found between DFI, age and BMI. While, the threat of presenting abnormal levels of DNA fragmentation increased with infertility duration.
Semen Analysis
Fragmentation
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The clinical factors associated with sperm DNA fragmentation (SDF) were investigated in male patients with infertility.Fifty-four ejaculates from infertile Japanese males were used. Thirty-three and twenty-one were from the patients with varicoceles and idiopathic causes of infertility, respectively. We performed blood tests, including the serum sex hormone levels, and conventional and computer-assisted semen analyses. The sperm nuclear vacuolization (SNV) was evaluated using a high-magnification microscope. The SDF was evaluated using the sperm chromatin dispersion test (SCDt) to determine the SDF index (SDFI). The SDFI was compared with semen parameters and other clinical variables, including lifestyle factors.The SDFI was 41.3 ± 22.2% (mean ± standard deviation) and did not depend on the cause of infertility. Chronic alcohol use increased the SDFI to 49.6 ± 23.3% compared with 33.9 ± 18.0% in nondrinkers. The SDFI was related to adverse conventional semen parameters and sperm motion characteristics and correlated with the serum FSH level. The SNV showed a tendency to increase with the SDFI. The multivariate analysis revealed that the sperm progressive motility and chronic alcohol use were significant predictors of the SDF.The SCDt should be offered to chronic alcohol users and those with decreased sperm progressive motility.
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Infertility affects 50 to 80 million (between 8 and 12% of couples). Male factor is a cause of infertility in almost half of the cases, mainly due to oligoasthenoteratozoospermia. DNA fragmentation is now considered an important factor in the aetiology of male infertility. We studied the effects on semen analysis and on DNA fragmentation of in vivo admnistration of Myo-Inositol and Tribulus Terrestris plus Alga Ecklonia plus Biovis (Tradafertil; Tradapharma Sagl, Swizerland) in men with previously diagnosed male infertility.Sixty patients were enrolled in the present study and were randomized into two subgroups: the group A who received Myo-inositol 1000 mg, Tribulus Terrestris 300 mg, Alga Ecklonia Bicyclis 200 mg and Biovis one tablet a day for 90 days, and the group B (placebo group) who received one placebo tablet a day for 90 days. The primary efficacy outcome was the improvement of semen characteristics after 3 months' therapy and the secondary outcome was the reduction of the DNA fragmentation after treatment.The groups were homogenous for age, hormonal levels, sperm concentration and all parameters of sperm analysis. Sperm concentration and progressive motility improved after treatment with Tradafertil (3.82 Mil/ml vs. 1.71 Mil/ml; p<0.05; 4.86% vs. 1.00%; p<0.05) as well as the DNA fragmentation (-1.64% vs -0.39%, p<0.001). No side effects were revealed.In conclusion, we can affirm that Tradafertil is safe and tolerable. It is a new phytotherapic approach to Oligoasthenoteratospermia (OAT) syndrome that could lead to good results without interacting with hypothalamic-pituitary-gonadal axis.
Tribulus terrestris
Semen Analysis
Fragmentation
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Semen Analysis
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To study the impact of mycoplasma genitalium (Mg) infection on sperm DNA fragmentation in male infertility patients and its clinical significance.We performed flow cytometry and routine semen examination for 100 male infertility patients with Mg infection (the case group) and 200 infertile men without Mg infection (the control group). We treated the patients with the antibacterial drug Azithromycin and examined their sperm DNA fragmentation index (DFI) by flow cytometry after treatment.The baseline sperm DFI was dramatically higher in the case group than in the normal controls (［40.1 ± 9.9］% vs ［5.4 ± 4.9］%, (P < 0.01), but reduced to (19.0 ± 9.0)% after antibacterial medication (P < 0.01). The count of immotile sperm was significantly decreased in the infertility patients after treatment (P < 0.05), but no statistically significant difference was observed in sperm concentration and motility before and after treatment (P > 0.05).The sperm DFI is significantly higher in male infertility patients with Mg infection than in normal men, and antibacterial therapy can effectively reduce the level of Mg infection-induced sperm DNA fragmentation. The analysis of sperm DNA fragmentation plays a more significant role than routine semen examination in the diagnosis and treatment of male infertility with Mg infection.
Semen Analysis
Mycoplasma genitalium
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Summary Determination of sperm DNA fragmentation, as assessed by the sperm chromatin structure assay (SCSA), has become an important tool for the evaluation of semen quality. The aim of the present study was to describe the biological variation of sperm DNA fragmentation in men attending an andrology clinic and to identify clinical correlates of the biological variation of sperm DNA fragmentation. For this study, two consecutive semen samples from 100 patients attending our andrology outpatient clinic were subjected to semen analysis, performed in parallel according to WHO guidelines and by SCSA. A good agreement between pairs of samples was found for SCSA‐derived variables, as indicated by a significantly lower median coefficient of variation (CV) of the DNA Fragmentation Index (DFI) and the high DNA stainability (HDS) compared with WHO semen parameters. In half of the men attending our andrology clinic, however, the individual biological variation of DFI and HDS, expressed as CV of two samples, exceeded 10%. Dysregulation of spermatogenesis, as seen as testicular insufficiency or varicocele, was not associated with increased variability of DFI or HDS. A backward multiple linear regression analysis, however, indicated that the biological variation of DFI may be more profound in men with characteristics of normal spermatogenesis. In conclusion, we confirm previous reports that sperm DNA fragmentation has a lower biological variability than classical semen parameters. We hypothesize that the sperm chromatin structure may be more influenced in patients with normal spermatogenesis, whereas in men with disturbed spermatogenesis, the chromatin structure may be already so impaired that the effect of unidentified factors leading to variability of sperm DNA fragmentation in time may not be as profound.
Semen Analysis
Outpatient clinic
Fragmentation
Coefficient of variation
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Semen quality
Semen Analysis
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Aim: To assess the correlation between semen parameters and sperm DNA fragmentation (SDF) and to examine whether SDF can be recommended as a routine test along with semen analysis. Materials and methods: Retrospective analysis was conducted for 118 male infertile patients attending a fertility clinic obtained from the records between 2017 and 2019. Semen analysis and SDF were assessed according to World Health Organization − 2010 guidelines and sperm chromatin dispersion test, respectively. Patients were grouped based on their SDF scores as "low DNA fragmentation group (LDF)" if SDF ≤ 18% and as "high DNA fragmentation group (HDF)" if SDF > 18%. Mann–Whitney and Kruskal–Wallis tests were used to find the difference in the mean of semen parameters between SDF groups. Statistical analysis was carried out using STATA Version-14. Results: The mean value of sperm concentration, motility, and normal morphology was higher in LDF compared to HDF. Correlation analysis showed patients' age to be positively associated with SDF (r = 0.125; P = 0.102). Sperm concentration, progressive motility, and normal morphology had a weak negative correlation with SDF. Around 63% and 69% of patients with normal morphology and normal motility respectively had high SDF. In the HDF category, nearly 42% had normal morphology, whereas a 66% demonstrated normal motility. The results of Kruskal–Wallis test for patients who had a treatment outcome (conception) showed that patients in LDF group had 1.5 times higher chance of "conception and live birth." Conclusion: Men with normal semen parameters can still have a high level of SDF. SDF along with semen analysis can help assess the reproductive potential of a male better.
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OBJECTIVE: The present study aimed to know the effect of paternal age together with Sperm DNA fragmentation on the clinical and laboratory outcomes in the donor oocyte intracytoplasmic sperm injection cycles. STUDY DESIGN: In this prospective cohort study a total of 229 patients undergoing their first intracytoplasmic sperm injection cycles and fresh blastocyst embryo transfer with donor oocytes were included in this study. All the patients of the donor oocyte intracytoplasmic sperm injection cycles were categorized into four groups based on the male age and sperm DNA fragmentation. Ⅰ. Y group (Young, Male age <40 years) with low sperm DNA fragmentation (Sperm DNA fragmentation ≤30%), Ⅱ. Y group (Young, Male age <40 years) with high sperm DNA fragmentation, Ⅲ. Advanced paternal age group, Male age ≥40 years with low sperm DNA fragmentation (sperm DNA fragmentation≤30%), and Ⅳ. Advanced paternal age group, Male age ≥40 years) with high sperm DNA fragmentation (sperm DNA fragmentation>30%). RESULTS: Clinical, as well as laboratory outcomes, were correlated among these four groups. There was no significant difference in the clinical outcomes among the groups, whereas coming to the laboratory outcomes, the advanced paternal age group with high sperm DNA fragmentation has significantly decreased good quality embryos (Grade A) at day 3 rate, blastocyst rate, and good quality blastocyst rate compared to other groups (p<0.05). CONCLUSION: In conclusion, advancing paternal age together with high sperm DNA fragmentation has no deleterious effect on the clinical outcomes in the intracytoplasmic sperm injection cycles of donor oocytes.
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