Journal of Reproduction & Infertility
Volume:25 Issue: 1, Jan-Mar 2024

Testicular cancer (TC) is a relatively rare type of cancer in men. Early diagnosis of TC remains challenging. Metabolomics holds promise in offering valuable insights in this regard. In this study, a metabolic fingerprinting approach was employed to identify potential biomarkers in both serum and seminal plasma of TC patients.

A total of 9 patients with testicular cancer and 10 controls were included in the study. The metabolic fingerprinting approach was utilized as a rapid diagnostic tool to analyze the metabolome in serum and seminal plasma of TC patients in comparison to fertile men. Raman spectroscopy was applied for the analysis of metabolites in these biological samples.

Principal component analysis (PCA) and functional group analysis showed that the differentiation between serum samples from healthy men and TC patients was not possible. However, when analyzing seminal plasma, a significant difference was found between the two groups (p<0.05). Functional group analysis of serum only showed an increase in tryptophan concentration ratio in TC patients as compared to healthy men (p=0.03). In contrast, in seminal plasma of TC patients, this increase was observed in all analyzed compounds, including phenylalanine, tyrosine, lipids, proteins, phenols (p<0.001).

Our study highlights the potential of metabolic fingerprinting as a fast diagnostic tool for screening TC patients, with seminal plasma serving as a valuable biological sample. Furthermore, several potential biomarkers, particularly phenylalanine, were identified in seminal plasma. This research contributes to our understanding of TC pathogenesis and has the potential to pave the way for early detection and personalized treatment approaches.

DNA fragmentation index (DFI) enhances routine semen analysis by providing valuable insights into male reproductive potential. Utilizing Halosperm test, a sperm chromatin dispersion (SCD) assay based on induced condensation. The purpose of this study was to assess sperm DNA damage both before and after freezing. By following the specified kit instructions, an attempt was made to validate the SCD test protocol, with a particular emphasis on the implications of sperm freezing on its DNA integrity.

In total, 380 fresh human semen samples from normozoospermic patients were frozen at -20°C for 10 days, using SCD cryopreservation reagent. Routine semen analysis and DNA fragmentation index (DFI) were determined for each sample before freezing and after thawing. Semen morphology and sperm DFI were compared before and after freezing/thawing process.

There was a significant decrease in sperm normal morphology after thawing (9.31±2.42% vs. 7.1±1.53%, p<0.05, respectively). The sperm head, midpiece, and tail defect rate increased after freezing at -20°C. Moreover, DFI was significantly higher after thawing compared to before freezing (20.71±1.61% before freezing vs. 29.1±0.21% after thawing with p<0.001).

Cryoconservation of semen samples at -20C for 10 days using SCD cryopreservation reagent seems to damage sperm morphology, resulting in a reduction in sperm DNA integrity. The measurement of DFI on a fresh sample remains the most reliable technique for obtaining accurate results.

Chlamydia trachomatis (CT) is one of the most prevalent sexually transmitted infections, causing genital tract infections and infertility. Defensins have an immunomodulatory function and play an important role in sperm maturation, motility, and fertilization. DEFB126 is present on ejaculated spermatozoa and is essential for them to pass through the female reproductive tract. The purpose of the study was to determine the frequency of the 2-nt deletion of the DEFB126 (rs11467417) in Iranian infertile males with a recurrent history of CT.

Semen samples of 1080 subfertile males were investigated. Among patients who had CT-positive results, sperm DNA from 50 symptomatic and 50 asymptomatic patients were collected for the DEFB126 genotype analysis. Additionally, a control group comprising 100 DNA samples from individuals with normal spermogram and testing negative for CT was included in the study. The PCR-sequencing for detecting the 2-nt deletion of the second exon of the DEFB126 was performed.

The Chi-squared test comparing all three groups revealed no significant difference across the different genotypes. Moreover, no significant difference between the symptomatic and asymptomatic groups was seen. However, analysis within CTpositive patients and controls demonstrated significant difference between the frequencies of homozygous del/del.

The higher frequency of the 2-nt deletion of the DEFB126 in CT- positive patients suggests that the occurrence of mutations in the DEFB-126 may cause the impairment of the antimicrobial activity of the DEFB126 protein and consequently makes individuals more susceptible to infections such as CT.

The purpose of the current study was to compare the testosteroneestradiol (T:E2) ratio in Toxoplasma gondii seropositive infertile men with seropositive and seronegative normozoospermic controls.

Totally, 200 men with normal virilization, 100 with idiopathic infertility and 100 normozoospermic men, were included. Participants underwent medical history assessment, physical examination, semen analysis, testing for T. gondii IgM/ IgG, and estimation of serum T:E2 ratios. Statistical comparisons were done using ttest and Chi-square with p<0.05 significance level.

Infertile cases were diagnosed with oligozoospermia (63%), oligoasthenozoospermia (34%), and oligoasthenoteratozoospermia (3%). Regarding anti-Toxoplasma IgG and IgM antibodies, among infertile men, 34 tested positive for IgG and 8 tested positive for IgM. Among cases tested positive for IgG antibodies, 13 (38.2%) had disturbed T:E2 ratios. Also, among the 12 IgG-positive controls, 5 (41.7%) had disturbed T:E2 ratios (p=0.834). However, only 2 out of the 83 seronegative controls (2.5%) had disturbed T:E2 ratios (p<0.001). Furthermore, 6 out of 8 IgM-positive cases had altered T:E2 ratios, compared to 3 out of 5 IgM-positive controls (p=0.568) and 2 out of 83 seronegative controls (p<0.001). The T:E2 ratio was significantly lower (8.68±1.95) among IgM-positive and higher (13.04±3.78) among IgG-positive cases when compared to seronegative controls (10.45±0.54) (p<0.001). There were no significant differences in T:E2 ratios between infertile men with positive IgM or IgG serology and the control group with the same serology.

A substantial number of infertile men with toxoplasmosis showed disrupted T:E2 ratios, highlighting the significance of anti-T. gondii-IgG testing in individuals with abnormal ratios.

The recognized role of Anti-Müllerian hormone (AMH) as a marker for women's biological age and ovarian reserve prompts debate on its efficacy in predicting oocyte quality during IVF/ICSI. Recent findings challenging this view compelled us to conduct this study to examine the correlation between AMH levels and quantity/quality of oocytes in IVF/ICSI procedures.

The data were collected retrospectively from the medical records of 320 women between 25-42 years old. The included patients were divided into two groups: the high AMH group (>1.1 ng/ml) and the low AMH (=<1.1 ng/ml) group. The high AMH group comprised 213 patients, while the low AMH group consisted of 107 patients. Spearman's correlation coefficient and Multinomial logistic regression were computed to assess the relationships between different variables.

Significant positive correlations were detected between AMH level and the number of aspirated follicles (rho=0.741, p<0.001), retrieved oocytes (rho=0.659, p< 0.001), M2 oocytes (rho=0.624, p<0.001), grade A embryos (rho=0.419, p<0.001), and grade AB embryos (rho=0.446, p<0.001. In contrast, AMH levels had negative associations with the number and duration of cycles (p<0.05). AMH emerged as a statistically significant independent predictor of the number of M2 oocytes.

Serum AMH level could represent the quantity and quality of oocytes following IVF/ICSI treatments. Future studies should aim to delve deeper into the correlations between AMH levels and both the quality and quantity of embryos. Additionally, it would be beneficial to consider the influence of sperm factors, as well as assess pregnancy rates.

Fetal distress (FD) is one of the most frequent causes of emergency cesarean section (CS) due to the insufficient uteroplacental blood supply during labor. There is a theory that Sildenafil citrate (SC) may improve the uteroplacental blood supply and decrease fetal hypoxia and FD.

In a randomized double-blinded clinical trial, a total of 208 low-risk subjects who met our stringent inclusion criteria were randomly assigned into two groups: the Sildenafil citrate group (n=104) and the placebo group (n=104). These participants were referred to our referral gynecology and obstetrics department for delivery between July 2022 to September 2022. The SC group received oral SC at a dose of 50 mg every 6 hr, up to a maximum of three times. The final maternal-fetalneonatal results were recorded and all data were analyzed using SPSS version 23.

The mean age of mothers was 28.98±5.6 years and 120 cases were primigravid (57.7%). Out of a total of 208 pregnant subjects, 168 subjects delivered through normal vaginal delivery (80.8%) and 40 cases underwent emergency CS (19.2%). The number of NVD in Sildenafil group was significantly more than placebo group (87.5% vs. 74%) and SC decreased the rate of emergency CS to 87.5% (RR=2.46%, 95%CI 1.19-5.08). Also, SC decreased the rate of FD to 53.8% (RR= 2.83%, 95%CI of 1-8.24).

The results showed that SC can effectively decrease the rate of emergency CS and FD during labor.

During preimplantation development, single aneuploidies are more commonly tolerated than complex aneuploidies. Some studies have reported that blastocysts with aneuploid karyotypes on Day-3 embryo biopsy can exhibit a normal karyotype on Day-5 rebiopsy, suggesting that single aneuploidies may have a higher likelihood of presenting a normal karyotype on Day-5. The purpose of the current study was to assess the benefit of reanalyzing the karyotypes of Day-3 single aneuploid embryos on Day-5.

Day-3 and Day-5 biopsies of preimplantation embryos were subjected to array comparative genomic hybridization (aCGH). A proof of concept case series study was conducted involving 13 Day-5 embryos from 4 couples across 3 ART centers, collected between October 2019 and June 2020. Each center provided one normal embryo and 3-4 embryos with single aneuploidy based on Day-3 aCGH results. The karyotype of each Day-5 embryo was compared with its corresponding Day-3 karyotype.

Among the 10 embryos with single aneuploidy on Day-3, 3 (30%) exhibited discordant karyotypes on Day-5, while the remaining 7 single aneuploid embryos and 3 normal embryos maintained the same karyotype from Day-3 to Day-5. None of the Day-3 single aneuploid embryos displayed a normal karyotype on Day-5.

Contrary to previous reports suggesting the potential correction of single aneuploidies in some embryos, the findings of this study did not support such a possibility in the analyzed embryos. Genomic reanalysis of Day-3 single aneuploid embryos on Day-5 does not appear to be a reliable method for identifying euploid embryos suitable for transfer.

Sperm DNA fragmentation (SDF) can affect fertilization rate and embryo development, making it a useful measure for assessing male fertility. Available evidence supports the association between high sperm DNA fragmentation and poor outcomes, with regard to natural conception. Several treatment options are being adopted with varying degrees of success. Some of the commonly used treatment options are the intake of oral antioxidants, varicocele repair, and techniques like micromanipulation- based sperm selection and use of testicular sperm for intracytoplasmic sperm injection.

Studies have shown that around 29% of couples depend on complementary and alternative medicine (CAM) modality for the treatment of infertility. However, there is a lack of substantial evidence regarding its efficacy in treating various aspects of infertility in couples. The current case report is about a 44 year-old male patient with infertility, who has a known diagnosis of sex chromosome abnormalities. Meanwhile, the SDF study reports indicated the presence of chromosomal abnormalities. This patient was treated exclusively with Ayurveda therapy aimed towards qualitative improvement in reproductive tissues (Shukra Dhatu as per Ayurveda). Patient was assessed periodically for changes in chromosomal abnormality. After four months of treatment, the evaluations demonstrated the presence of completely normal chromosomes.

This case study indicates the potential of Ayurveda therapy in treating cases of male infertility caused by DNA fragmentation. Furthermore, observations and systematically designed clinical trials are warranted to establish a stronger level of evidence before making further clinical recommendations.

Chromosomal structural rearrangements can lead to fertility problems and recurrent miscarriages. The intricate interplay of genetics during human development can lead to subtle anomalies that may affect reproduction.

A 33-year-old woman sought fertility treatment after experiencing six miscarriages. Products of conception from the final pregnancy loss had been karyotyped, revealing a Robertsonian translocation (RT), involving chromosome 14. Fertility investigations showed low anti-Mullerian hormone (AMH) levels but otherwise normal female characteristics with normal sperm parameters of her husband were observed and both partners having a normal karyotype. Two embryos were transferred in an IVF cycle but neither resulted in a successful pregnancy. Subsequently, preimplantation genetic testing for aneuploidy (PGT-A) was applied to trophectoderm biopsy specimens from 4 embryos, which revealed abnormalities involving chromosome 14. Sperm aneuploidy testing failed to detect any increase in the incidence of aneuploidy affecting chromosome 14. Further embryos genetic testing indicated that all identified chromosome 14 abnormalities in the embryos had a maternal (oocyte) origin.

This case underscores challenges in diagnosing and managing germline mosaicism in fertility. A maternal 14;14 Robertsonian translocation, undetected in the patient's blood but impacting oocytes, likely explains recurrent miscarriage and observed embryo aneuploidies. Genetic mosaicism in reproductive medicine highlights the necessity for advanced testing and personalized treatments. Data integration from various genetic analyses could enhance managing treatment expectations and improving fertility experiences.

The purpose of the current study was to report a case with 45,X/ 46,XY/46,X,idic(Yp) mosaicism showing the male phenotype with mixed gonadal dysgenesis.

A 27 year-old individual, phenotypically male, presented with azoospermia and a micropenis. Both testes were not visualized in the scrotal sac. Due to the presence of a small-sized uterus, the individual was referred to the KSHEMA Center for Genetic Services for chromosomal analysis. Karyotyping revealed a mosaic karyotype of 45,X[44]/46,XY[5]/46,X,idic(Yp)[1]. This finding was further confirmed through fluorescent in situ hybridization (FISH) analysis. The individual's mosaic karyotype consisted of three cell lines, with a higher proportion of the 45,X cell line and lower proportions of the idic(Yp) and 46,XY cell lines. It is worth noting that this mosaic condition in postnatal peripheral blood has not been reported in the literature thus far.

The case report demonstrated the importance of performing karyotype and FISH analysis in understanding genetic defects including mosaicism and other chromosomal aberrations, which can influence not only growth and puberty but also sexual development and maturation. Hence, performing cytogenetic and molecular cytogenetic analysis will help clinicians to take a further step in understanding and managing the condition.