Journal of Human Reproductive Sciences最新文献

The Indian Society for Assisted Reproduction (ISAR), Indian Fertility Society (IFS) and Academy of Clinical Embryologists (ACE) jointly recommend that non-invasive preimplantation genetic testing (niPGT) (whether using spent culture media or blastocoel fluid) should not be used in clinical practice at this time and does not recommend it for embryo ranking or selection for transfer in its present form. It has based this position statement on the following key considerations. (1) Diagnostic Accuracy: Current evidence indicates significant error rates, including unacceptably high false positives and false negatives, which undermine its reliability for clinical decision-making. (2) Clinical Efficacy: There is a lack of conclusive evidence that niPGT improves clinical outcomes such as implantation rates, pregnancy rates or live birth rates. The IFS, ISAR and ACE urge the medical and scientific communities to focus on research on niPGT to ensure its reliability and clinical applicability in the future.

Background: Sperm DNA fragmentation index (DFI) is increasingly recognised as a critical parameter in male infertility assessment. However, its prognostic utility in assisted reproduction, particularly in intracytoplasmic sperm injection (ICSI) cycles, remains uncertain.

Aim: This study aims to evaluate the association between sperm DFI and clinical outcomes following ICSI and to examine whether this relationship is independent of maternal age.

Settings and design: A multicentre retrospective cohort study across private fertility centres in India.

Materials and methods: A total of 688 couples undergoing ICSI were analysed. Subjects were categorised based on sperm DFI levels (≤15%, 15%-30% and >30%). Semen characteristics and pregnancy outcomes were compared across all DFI groups. Multivariate logistic regression was performed to adjust for female age.

Statistical analysis used: Kruskal-Wallis test, Chi-square test, univariate and multivariate logistic regression analysis.

Results: Higher DFI was associated with poorer semen parameters, including lower motility, concentration and morphology. There was no statistically significant association between DFI levels and biochemical pregnancy, clinical pregnancy, ongoing pregnancy or live birth rates in couples who conceived after ICSI. These findings remained consistent after adjusting for maternal and paternal age.

Conclusions: Sperm DFI was related to semen quality but did not independently predict ICSI outcomes. While it may provide adjunctive information in selected cases, it is not a prognostic marker of ICSI success.

Background: The sperm annulus is a fibrous ring structure formed by septin proteins. It connects the mid-piece and principal piece of the sperm flagellum in mammals and plays a crucial role in flagellar stability and motility.

Aim: This study aimed to compare the presence or absence of the sperm annulus in patients with immotile short-tail spermatozoa and a fertile control group.

Settings and design: This observational case-control study was conducted at a local research institute.

Materials and methods: Twenty infertile men with short-tail sperm defects (>50% of spermatozoa affected) and 20 fertile men with normal semen parameters were recruited. Immunocytochemistry was performed to assess the presence of the annulus using antibodies against Septin4 and Septin7. The absence of annular structures was confirmed by transmission electron microscopy (TEM).

Statistical analysis used: No statistical analysis was performed in this study.

Results: In the control group, Septin4 and Septin7 were precisely localised at the annulus region between the mid-piece and principal piece of spermatozoa. In contrast, spermatozoa from the patient group exhibited either a complete absence of annular staining or abnormal localisation of the annulus near the sperm head. In one patient, more than 90% of spermatozoa lacked Septin4 and Septin7 expression, as confirmed by TEM.

Conclusion: Absence or structural abnormalities of the sperm annulus in men with short-tail spermatozoa may contribute to impaired motility. Evaluating annulus integrity may serve as a potential diagnostic biomarker in selected cases of male infertility.

Background: Reliable identification of embryo ploidy is essential for optimising outcomes in assisted reproductive technology (ART). Conventional deep learning models, however, are limited by class imbalance, particularly due to the underrepresentation of mosaic embryos.

Aim: This study aimed to improve embryo ploidy classification by integrating Vision Transformers (ViTs) with sequential time-lapse imaging and applying random undersampling (RUS) to mitigate data imbalance.

Settings and design: A retrospective study using blastocyst-stage time-lapse imaging data from a fertility clinic. Customised deep learning models were developed to predict embryo ploidy status.

Materials and methods: A total of 1020 blastocyst videos with genetically confirmed ploidy were analysed, generating 99,324 sequential frames representing the final 10 h of development before biopsy. To address imbalance, RUS produced a balanced dataset of 17,000 images per class: Euploid, aneuploid and mosaic. Two ViT architectures (ViT-B/16 and ViT-B/32) were fine-tuned for binary and multiclass tasks. Model performance was evaluated using accuracy, precision, recall, and F1-score on both balanced and imbalanced datasets.

Statistical analysis used: Model performance was evaluated using accuracy, precision, recall, and F1-score. A 5-fold cross-validation procedure was applied to ensure robustness and reduce variance across data splits.

Results: The ViT-B/16 achieved 0.84 accuracy in binary and 0.67 in multiclass classification on the balanced dataset, whereas performance dropped to 0.49 on the imbalanced set. RUS improved the prediction of minority classes, particularly mosaic embryos.

Conclusion: Combining ViTs with sequential time-lapse imaging and RUS provides a promising non-invasive approach for embryo ploidy classification, enhancing accuracy for mosaic embryos and supporting more informed embryo selection in ART.

Background: Genetic polymorphisms in the luteinizing hormone (LH) β-subunit gene have been associated with responses to controlled ovarian hyperstimulation (COH) in in vitro fertilisation (IVF) patients. Variants in rs1800447 and rs34349826 may increase androgen production, potentially impairing folliculogenesis and ovarian response.

Aim: The aim of this study was to investigate the clinical significance of LH β-subunit single-nucleotide polymorphism (SNP) (rs1800447 and rs34349826), levels of testosterone, sex hormone-binding globulin (SHBG) and free testosterone index in predicting COH response in polycystic ovary syndrome (PCOS) women.

Settings and design: This nested case-control study enlisted 122 women with PCOS in the Morula IVF Jakarta Clinic, Jakarta, Indonesia.

Materials and methods: The selection of cases and controls was in the ratio of 1:2. Blood samples were taken on day 2 or 3 of menstrual cycle. Sanger sequencing was utilised to genotype the LH β-subunit genes (rs1800447 and rs34349826). Levels of testosterone and SHBG were measured to calculate the free testosterone index. Women were retrospectively grouped as hyporesponders (<8 oocytes) or normo/hyperresponders (≥8 oocytes) according to the number of retrieved oocytes.

Statistical analysis used: SPSS Software version 21.0 (IBM Corp., USA). Independent t-test or Mann-Whitney test for numerical variables and Chi-square test for categorical variables were employed.

Results: A unique automatic transmission (AT) variant in both rs1800447 and rs34349826 LH β-subunit was discovered, which has yet been reported previously. Notably, the proportion of heterozygous LH β genotypes (AT and AG) in both rs1800447 and rs34349826 was similar between hyporesponder and normo/hyperresponder groups (P > 0.05). All participants were normoandrogenic PCOS women, indicated by the normal level of testosterone (0.84 ± 0.35 nmol/L) and SHBG (57.87 ± 29.20 nmol/L) as well as free testosterone index (1.88 ± 1.34). No difference in testosterone levels, SHBG and free testosterone index was observed among the studied groups (P > 0.05).

Conclusion: LH β gene SNPs (rs1800447 and rs34349826), testosterone level, SHBG level and free testosterone index were not significantly correlated and less effective clinical indicators for COH response in normoandrogenic PCOS women.

Background: Human beings are routinely exposed to arsenic, a ubiquitous environmental toxicant present in food, water, air and soil. Both acute and chronic exposure to this metalloid poses significant health risks, including negative impact on the male reproductive system, as evident from studies in humans and animals.

Objective: The current systematic review evaluated the impact of arsenic exposure on semen quality in human populations to determine any association between decline in semen quality and arsenic exposure.

Materials and methods: A total of 361 studies were retrieved from systematic literature search in electronic databases, namely Scopus, PubMed and Cochrane central databases. Two step screening process was performed by two reviewers independently, and finally four studies were included in the review.

Results: Two cross-sectional studies were included for meta-analysis. In cross-sectional studies, pooled mean semen volume (3.18 ml; 95% confidence interval [CI]: 2.34-4.02; I² = 86.5%), sperm concentration (78.69 × 10⁶/mL; 95% CI: 66.01-91.37; I² = 0.0%) and sperm motility (52.13%; 95% CI: 29.88-74.37; I² = 95.0%) were within or above the World Health Organization reference values, although with high heterogeneity. The findings from two case-control studies could not be pooled due to a lack of appropriate non-exposure controls and are therefore described narratively.

Interpretation: The meta-analysis suggests that arsenic exposure may negatively influence semen volume, with inconsistent effects on concentration and motility. Despite biological plausibility involving oxidative stress and endocrine disruption, the limited number of studies and methodological variability restrict definitive conclusions. Further large scale, longitudinal studies with standardised exposure and outcome assessments are essential to validate these findings.

Limitations: The small number of eligible studies and high heterogeneity across designs and exposure assessments limit the generalizability of findings. In addition, the lack of longitudinal data restricts causal inference regarding arsenic's effect on semen quality. PROSPERO Registration: CRD42024529010.

46,XX male syndrome, also known as De la Chapelle syndrome, is a rare condition characterised by a discordance between chromosomal sex and male phenotypic presentation. This study investigates the genetic basis of sex-determining region of Y-gene (SRY)-positive 46,XX testicular disorders of sex development in three male patients presenting with primary infertility and signs of hypogonadism. All patients had azoospermia on semen analysis. Cytogenetic and molecular investigations, including conventional karyotyping, fluorescence in situ hybridisation and polymerase chain reaction, confirmed a 46,XX karyotype with SRY gene translocated onto the short arm of one X chromosome. Y chromosome microdeletion analysis revealed the complete absence of Azoospermia Factor a (AZFa), AZFb and AZFc regions, which correlates with the observed infertility. These findings highlight the role of SRY translocation in initiating the testicular development in 46,XX individuals, while the absence of AZF regions contributes to spermatogenic failure.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting reproductive-aged women, with a global prevalence of 5%-10%, and up to 25% in certain populations. Developing countries like India have witnessed a surge in obesity and related metabolic comorbidities due to rapid urbanisation and lifestyle transitions. This study examines temporal changes in the clinical and metabolic profile of women with PCOS from Odisha, India, over the past 15 years.

Aim: This study aims to analyse how PCOS women have changed in their clinical, phenotypic, biochemical and metabolic parameters over the last two decades.

Settings and design: Private hospital and retrospective analysis.

Materials and methods: This retrospective chart review included 1530 women diagnosed with PCOS (Rotterdam criteria) at a tertiary care centre in Odisha. Patients were grouped into three periods: Period 1 (2009-2013), Period 2 (2014-2018) and Period 3 (2019-2024), with approximately equal numbers. Anthropometric, biochemical and ultrasonographic features were compared across time periods.

Statistical analysis used: The data were analysed using Chi-square and Kruskal-Wallis tests and the R v4.1.1 (R Core Team, 2021) software.

Results: Mean body mass index increased from 26.40 ± 4.61 kg/m² (Period 1) to 28.42 ± 5.31 kg/m² (Period 3), P < 0.001. Waist circumference rose from 86.83 ± 11.18 cm to 90.78 ± 12.12 cm, P < 0.001. Abnormal glucose tolerance (glucose challenge test 75 g 2 h) (mg/dl) 129.95 ± 66.54 to 136.99 ± 44.37, P < 0.001 and fasting blood glucose (mgs/dl) 94.71 ± 17.36 to 94.91 ± 14.38, P < 0.001 also increased significantly. Family history of PCOS, diabetes mellitus, hypertension, obesity and dyslipidaemias significantly increased, indicating a rising prevalence of these conditions over time. Menstrual dysfunction remained consistently prevalent, with cycles of 60-90 days most frequent in Period 2 (59.1%). Metabolic syndrome prevalence increased from 36.5% to 45.6.

Conclusion: Over the last 15 years, the metabolic and phenotypic profile of Indian women with PCOS has worsened significantly. These findings highlight the need for early lifestyle interventions and public health strategies targeting metabolic risk factors in this population.