Clinical and Experimental Reproductive Medicine-CERM最新文献

Objective: Mixed gonadal dysgenesis is characterized by abnormal genital appearance and chromosomal mosaicism. A wide spectrum of clinical manifestations can occur, ranging from females (with or without Turner syndrome) to phenotypically normal males with some degree of genital ambiguity. In this context, uncommon mosaic karyotypes are associated with distinctive phenotypic characteristics. Here, we present the case of an 18-year-old girl with primary amenorrhea, delayed puberty, and a rare mosaic karyotype pattern.

Methods: Clinical data were collected, and karyotyping was performed on peripheral blood samples. Polymerase chain reaction amplification for the sex-determining region Y protein (SRY) gene was also conducted.

Results: The patient presented with delayed puberty and primary amenorrhea. Her hormonal profile was consistent with hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a small uterus. Echocardiography identified the presence of a bicuspid aortic valve. Karyotyping demonstrated a 46,XY/45,X/46,X,r(Y) pattern, indicating mosaicism for monosomy X and two cell lines: 45,X and 46,X,r(Y). The SRY gene was detected. Gonadal pathological investigation confirmed streak gonads consistent with gonadal dysgenesis and evidence of gonadoblastoma.

Conclusion: Complicated cases with mosaic chromosomal patterns can exhibit a wide range of phenotypic features, from apparently normal males with variable external genitalia to females with or without characteristics of Turner syndrome. These phenotypic discrepancies are not directly related to the number of mosaic cells or the specific location of Y chromosome breakage. Therefore, in cases of primary amenorrhea with genotype-phenotype discrepancies, a multidisciplinary approach is essential to guide appropriate sex determination and management.

Objective: This study aimed to investigate the effects of specific probiotic strains on the endocrine activity of Leydig cells, which are essential for testosterone production. We focused on the potential influence of probiotics on testosterone synthesis and mitochondrial functionality within these cells.

Methods: The TM3 Leydig cell line was utilized to assess the effects of three probiotic strains: Lacticaseibacillus rhamnosus, Limosilactobacillus fermentum, and Bifidobacterium longum subsp. longum. The analyses evaluated key aspects of Leydig cell function, including endocrine signaling pathways, cellular proliferation, gene and protein expression related to testosterone biosynthesis, and mitochondrial function.

Results: The probiotic strains significantly enhanced the expression of key proteins involved in testosterone synthesis and upregulated mitochondrial activity compared to control cells. Notably, these effects were observed across all three probiotic strains, suggesting a positive impact on both testosterone production and mitochondrial function.

Conclusion: The findings suggest that probiotic supplementation can modulate testosterone synthesis and improve mitochondrial functionality in Leydig cells. These results underscore the potential of probiotics as modulators of male reproductive health, with possible therapeutic applications in conditions such as male hypogonadism.

Objective: This study aimed to evaluate reproductive outcomes according to the timing of testicular sperm retrieval.

Methods: The study included 282 infertile couples divided into three groups: group A (freeze-thawed testicular sperm extraction [TESE] sperm, n=233), group B (fresh TESE sperm collected 1 day before ovum pickup, n=22), and group C (fresh TESE sperm collected on the same day as ovum pickup, n=27). The indications for TESE were surgically uncorrectable azoospermia or ejaculation failure, often accompanied by medical comorbidities such as diabetes mellitus and spinal cord injury. The outcome parameters assessed were fertilization rates, embryo quality, and clinical pregnancy rates.

Results: The mean paternal age was 36.8±5.7 years, and the mean maternal age was 32.6±3.5 years. The mean duration of infertility was 2.9±1.8 years. The fertilization rates were 70.7%, 78.9%, and 73.0% for groups A, B, and C, respectively (p=0.047). The percentages of good-quality embryos were 68.2%, 65.3%, and 48.4%, respectively (p=0.007); specifically, the percentage of good-quality embryos was significantly lower in group C compared with the other two groups. Clinical pregnancy rates per transfer were similar at 51.1%, 50.0%, and 48.1% (p=0.958), with no differences observed in miscarriage rates.

Conclusion: Testicular sperm retrieval can be safely performed 1 day before ovum pickup, resulting in favorable fertility outcomes.

Objective: Although various studies have linked environmental toxins, mumps infections, alcohol consumption, and abnormal body mass index (BMI) to impaired semen quality, the precise causes of infertility remain unclear. This study investigates the impact of BMI on oxidative stress markers in semen analysis among infertile men, illuminating the role of oxidative stress in cases of unexplained infertility.

Methods: In this cross-sectional study, 280 patients exhibiting infertility symptoms were recruited. Comprehensive semen analysis was conducted, evaluating reactive oxygen species (ROS) levels, sperm plasma membrane lipid peroxidation via flow cytometry, total antioxidant capacity (TAC), and results from the sperm chromatin structure assay. Participants were categorized based on their BMI, facilitating comparisons between obese and non-obese individuals.

Results: Both BMI and age significantly influenced male fertility, particularly in obese individuals. Strong correlations were identified between elevated BMI, increased ROS levels, and decreased TAC. The obese infertile group exhibited substantially lower TAC compared to controls, highlighting obesity's detrimental effect on antioxidant defenses. Furthermore, significant reductions in sperm count, motility, and normal morphology were observed, alongside an increase in non-motile sperm. These outcomes demonstrate the complex relationship among oxidative stress, BMI, and fertility, emphasizing the necessity for targeted interventions addressing obesity's effects on reproductive health.

Conclusion: This study underscores the importance of managing obesity and understanding its impact on oxidative stress as essential components in improving reproductive outcomes among affected men.

Objective: Anogenital distance (AGD) is a sexually dimorphic marker of genital development and fetal androgen activity. Shortened AGD has been linked to impaired male fertility. The distinct phenotypic and reproductive characteristics associated with Klinefelter syndrome (KS) may influence AGD. This study aimed to investigate AGD measurements in men with KS and evaluate their clinical significance.

Methods: A case-control study was conducted involving 87 male participants categorized into three groups: normospermic (n=51), KS (n=18), and idiopathic non-obstructive azoospermia (iNOA; n=21). AGD was measured as the anoscrotal distance (AGDAS) using a digital caliper. Physical and hormonal evaluations, semen analyses, and karyotyping were performed. Group differences were analyzed using analysis of variance with post hoc testing, and Pearson correlations were calculated between AGD and clinical variables.

Results: AGD measurements differed significantly between groups (F(2,87)=15.2, p<0.0005). AGD was longer in the normospermic group compared to the iNOA group (p<0.0005) and longer in the KS group than in the iNOA group (p=0.015). No significant difference was observed between normospermic and KS groups (p=0.153). Hormonal analyses showed lower testosterone and estradiol levels in KS patients compared to iNOA. Correlation analyses did not identify significant associations between AGD and clinical or hormonal parameters.

Conclusion: AGD in men with KS is comparable to normospermic individuals and longer than in iNOA patients. In clinical assessments, the presence of small testes in individuals with AGD measurements similar to normospermic men may raise suspicion for KS.

Objective: Hydroxyethyl piperazine ethane sulfonicacid (HEPES)-buffered media have long been employed in assisted reproductive technology (ART) procedures; however, concerns persist regarding the impact of zwitterionic buffers on intrinsic cellular mechanisms. Limited studies have compared ART outcomes using bicarbonate media versus HEPES-buffered media during intracytoplasmic sperm injection (ICSI). This study compared the efficacy of two media used in ICSI: bicarbonate medium (one-step) and HEPES-buffered medium (SynVitro Flush).

Methods: This retrospective study analyzed data from 200 ICSI cycles performed in 2023. Metaphase II oocytes were allocated to a bicarbonate medium (SAGE 1-STEP; Origio) or a HEPES-buffered medium (SynVitro Flush) during the ICSI procedure. Outcomes including fertilization rate, embryo quality and development, implantation rate, clinical pregnancy rate, miscarriage rate, and live birth rate were compared between the two groups.

Results: The fertilization rate was significantly higher in the one-step medium (89.04%) than in the SynVitro medium (82.30%; p<0.001). The one-step medium also yielded more cleaved embryos and higher-quality blastocysts (class A/B; p<0.05). Consequently, more embryos were frozen in the one-step group (264 vs. 151), and higher embryo utilization rates were observed. Clinical pregnancy and live birth rates were significantly higher in the one-step group (p<0.05). No significant differences were found in chemical pregnancy rates or live birth rates among cycles utilizing frozen embryos (p>0.05). Additionally, there were no differences observed in miscarriage rates or multiple pregnancy rates.

Conclusion: The one-step bicarbonate medium improved cycle efficiency during the ICSI procedure compared to the SynVitro Flush medium. This finding underscores the importance of selecting an appropriate medium.

Artificial intelligence (AI) has rapidly advanced in healthcare, demonstrating significant potential in analyzing large, heterogeneous datasets using optimized algorithms for disease prediction and personalized treatment. Assisted reproductive technology (ART), particularly in vitro fertilization (IVF) and embryo transfer, generates extensive data, making it especially suitable for AI-driven analysis. AI-based applications aim to improve clinical outcomes through personalized ART strategies and predictive algorithms, with potential applications categorized into various procedural stages. Despite its promising nature, most AI-related ART studies appear in general scientific journals rather than core obstetrics and gynecology publications. Moreover, limited clinician understanding of AI methodologies, strengths, and limitations represents a barrier to clinical implementation. This review summarizes recent advancements in AI applications within ART, covering areas such as clinical counseling, outcome prediction, IVF workflow management, controlled ovarian stimulation and follicular monitoring, oocyte and semen analysis, and embryo assessment. It also addresses future considerations for the responsible integration of AI technologies in ART, emphasizing the importance of multidisciplinary collaboration. Integrating AI into ART holds substantial promise and, with targeted research and development, is expected to meaningfully advance the achievement of successful pregnancies.

Objective: The use of photobiomodulation (PBM) for tissue repair has gained acceptance. This study investigated and compared the effects of PBM on mice exposed to scrotal hyperthermia and busulfan.

Methods: Forty 8-week-old adult mice were divided into five groups: (I) control, (II) hyperthermia, (III) busulfan, (IV) hyperthermia+PBM, and (V) busulfan+PBM. To induce azoospermia in groups II and IV, the scrotum of the mice was exposed to water at 43 °C every other day for 5 weeks. In groups III and V, a single dose of busulfan (45 mg/kg) was administered intraperitoneally. Mice in groups IV and V received laser irradiation (0.03 J/cm2/sec) every other day for 35 days.

Results: Molecular data analysis revealed that the levels of glutathione and the expression of proliferating cell nuclear antigen (Pcna) and stimulated by retinoic acid gene 8 (Stra8) genes were significantly higher in the busulfan+PBM group than in the hyperthermia+PBM group. Additionally, the number of testicular cells, tissue volume, and sperm parameters were also markedly higher in the busulfan+PBM group. Furthermore, this group exhibited a notable increase in serum testosterone levels.

Conclusion: The results demonstrated that laser therapy enhances testicular function and spermatogenesis by reducing the formation of reactive oxygen species and increasing the expression of mitotic genes following the induction of scrotal hyperthermia and busulfan injection. However, the effectiveness of PBM was greater in the busulfan+PBM group.

Objective: The aim of this study was to observe the effect of clomiphene citrate on sperm parameters in infertile men diagnosed with idiopathic oligoasthenozoospermia.

Methods: This randomized controlled trial involved 50 infertile men diagnosed with idiopathic oligoasthenozoospermia, all of whom had normal serum testosterone and follicle-stimulating hormone levels. The participants were divided into two groups. The first group (n=25) received a daily dose of 50 mg of clomiphene citrate in tablet form for 3 months, while the second group (n=25) was given a placebo. Sperm concentration, sperm motility, and serum testosterone levels were measured at the start of the study and after 3 months of treatment. Changes in these parameters were then assessed and compared between the two groups.

Results: There was a significant increase in the mean sperm count (9.17±4.11 million/mL vs. 13.88±7.27 million/mL), progressive motility (14.67±7.03 vs. 21.42±11.9), total motile sperm count (3.53±3.08 million vs. 7.81±7.10 million), and mean serum testosterone levels (371.97±88.51 ng/dL vs. 805.94±290.77 ng/dL) in the clomiphene citrate group. In contrast, the changes in the placebo group were not significant. Post-treatment severe oligozoospermia was substantially lower in the clomiphene citrate group (odds ratio, 0.31) compared to the placebo group. Additionally, half of the participants in the clomiphene citrate group experienced a statistically significant upgrade in World Health Organization (WHO) sperm concentration categories, versus 27.3% in the placebo group.

Conclusion: Clomiphene citrate improves sperm count and motility, leading to upgrades in WHO sperm concentration categories in infertile men with idiopathic oligoasthenozoospermia.

Objective: Follicular fluid (FF) oxidation-reduction potential (ORP) has shown promise as a predictor for in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) outcomes has been demonstrated. This study aimed to determine the association between the ORP in FF and IVF/ICSI outcomes.

Methods: This cross-sectional study involved data collection from 341 couples undergoing IVF/ICSI treatment. The FF sample was taken from the first follicle to exceed 18 mm during oocyte retrieval and was analyzed for ORP using the MiOXSYS system (Caerus Biotechnologies).

Results: ORP in FF exhibited a statistically significant negative correlation with the fertilization rate (correlation coefficient, -0.126; p=0.019). The ORP levels in the FF from the group with a lower fertilization rate (<80%) were significantly higher than those in the group with a higher fertilization rate (≥80%) (89.90 mV vs. 78.98 mV, p=0.030). No significant correlations were found between ORP in FF and other outcomes.

Conclusion: Our findings suggested that the ORP in FF may be correlated with the fertilization rate and could be evaluated as a predictor of fertilization in ICSI.