Journal of Human Reproductive Sciences最新文献

Background: A precise balance among angiotensin-converting enzyme (ACE), angiotensin-II (Ang-II) and Ang-II type 1 receptor is essential for spermatogenesis. Any alteration in this balance can potentially lead to infertility.

Aim: To study the potential association of the ACE Insertion (I)/deletion (D) polymorphism with male infertility in the North Indian population of Jammu and Kashmir.

Settings and design: This case-control genetic association study was conducted on 362 subjects in the North Indian population of Jammu and Kashmir. All participants provided informed consent, and the study was approved by the institutional human ethics committee.

Materials and methods: DNA was extracted from blood using a kit (Qiagen Pvt. Ltd., Germany). The primer sequence was taken from the literature. Ready-to-use PCR mix from Takara Bioscience was used to genotype the ACE I/D polymorphism in 162 infertile men and 200 healthy controls.

Statistical analysis used: Logistic regression, t-test and Chi-square were used to perform the statistical comparisons between cases and controls using SPSS v25.0 and other online statistical tools.

Results: The D allele frequency in combined cases was significantly higher than in the control group, with values of 0.52 compared to 0.34 (P = 0.04). Similarly, the genotypic frequency distribution between cases and controls was significantly different, with cases having a higher prevalence of the DD genotype than controls (27.7% vs. 9.5%, respectively). Our data suggest that men with the DD genotype are approximately five times more likely to experience infertility than those with the II genotype in the study population, with an odds ratio (OR) of 4.94 (95% confidence interval [CI] 2.45-9.97). Furthermore, infertile men with the DD genotype exhibited lower sperm count (54.2 ± 13.1 million/mL) and progressive motility (41.2 ± 12.8%) compared to the II carriers (sperm counts 59.1 ± 13.2 million/mL and progressive motility 47.7 ± 11.5%). When analysed separately, only asthenoteratozoospermic and idiopathic cases showed a highly significant association with the DD genotype when compared with the control group (OR 4.7 [95% CI 2.09-10.34] and OR 6.3 [95% CI 2.79-14.90], respectively).

Conclusion: Our study is the first report linking the ACE I/D polymorphism to male infertility in any Indian population. The D allele appears to pose a greater risk for male infertility in the study population, particularly for asthenoteratozoospermic and idiopathic infertility.

Background: With specific symptomatology and clinical presentation, the validity of standard quality of life assessment scales is questionable for polycystic ovary syndrome (PCOS) women.

Aim: The aim of the study was to translate and validate the Hindi version of the PCOS-related Quality of Life (PCOSQOL) scale into culturally adaptable, screening tool for Indian women with PCOS.

Settings and design: A cross-sectional study was conducted in the outpatient department of a tertiary care hospital.

Materials and methods: After standard translation and linguistic validation, modifications were done as per culturally acceptable items. After the item content validity index and scale content validity ratio testing, the preliminary tool was prepared. After pilot testing and minor modifications, the final PCOSQOL for Indian Women (PCOSQOL-I) tool was applied to 287 PCOS women to check reliability, exploratory factor analysis, uniqueness, and factor loading.

Statistical analysis used: R (version 4.3.0 [2023-04-21]).

Results: The CVI of the 27-item Hindi tool was 0.73, 0.83, 0.70, and 0.72, respectively, for relevance, clarity, appropriateness, and necessity, thus indicating recommended content validity. A three-factor solution emerged through exploratory factor analysis with proportional variance for factors 1 (impact of PCOS), 2 (hirsutism), and 3 (infertility) as 0.22, 0.12, and 0.10, respectively. The cumulative variance was 0.22, 0.35, and 0.44, respectively. There was high internal consistency (Cronbach Alpha 0.89). On factor loadings, and dropping items with value <0.3, final 25-item PCOSQOL-I scale was developed where each item scored 0-4 with higher score indicating better quality of life.

Conclusion: The PCOSQOL-I scale has good reliability and may be used to screen the quality of life for PCOS women. Further testing of the tool is warranted to check its competency to differentiate among PCOS women with different phenotypes.

Background: Conventionally, letrozole for ovulation induction (OI) in polycystic ovary syndrome (PCOS) is started at a dose of 2.5 mg, which is gradually escalated depending on the follicular response. The minimum dose required for follicular response for a particular patient is yet to be determined.

Aim: The aim of the study was to compare various clinical and ultrasonographic characteristics of patients with successful OI with different doses of letrozole and individualise the dose of letrozole.

Setting and design: This prospective cohort study was conducted in a tertiary care teaching hospital from December 2019 to March 2024.

Materials and methods: Ninety-seven patients were treated with a starting dose of 2.5 mg of letrozole. The dose was increased to 5 and 7.5 mg without a follicular response. Various clinical and ultrasonographic characteristics were compared.

Statistical analysis used: Data entered in Microsoft Excel and analysed using SPSS version 27. P < 0.05 was statistically significant.

Results: Of 97 patients, 10 were lost to follow-up. Eighty-one (93.1%) patients had a positive response to letrozole. Six (6.9%) patients did not respond to the maximum dose of 7.5 mg of letrozole. Waist circumference, maximum antral follicle count per ovary and volume of the largest ovary were significantly different for patients who responded to different doses of letrozole (P < 0.05). Further analysis revealed that an ovarian volume of 10 cc or more is a risk factor for non-response to 2.5 mg of letrozole.

Conclusion: The ovarian volume can be considered when determining the dose of letrozole in PCOS.

Background: Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting both physical and psychological health in women of reproductive age. While its metabolic and reproductive symptoms are well-documented, fatigue remains an underrecognised yet significant concern. Psychological distress, including anxiety, depression and stress, may contribute to fatigue in women with PCOS, either directly or by influencing sleep disturbances. While insomnia is commonly reported in this population, this study primarily focuses on fatigue and its association with psychological distress, with sleep disturbances considered as a secondary factor requiring further exploration.

Aim: This study aims to investigate the association between psychological distress (anxiety, depression and stress) and fatigue in women with PCOS. In addition, it explores whether sleep disturbances show any association with fatigue, providing insights into factors that may contribute to fatigue severity in this population.

Settings and design: This is a cross-sectional pilot study conducted in a university outpatient department.

Materials and methods: A total of 52 women, diagnosed with PCOS were included in this cross-sectional study. Data collection involves scoring of fatigue by administering the fatigue severity scale (FSS) and insomnia severity index (ISI) for insomnia and components of psychological distress (stress, depression and anxiety) using the Depression Anxiety Stress Scale-21.

Statistical analysis used: Data were analysed using IBM SPSS version 25. Pearson correlation coefficients were used to explore bivariate relationships between fatigue and independent variables. Statistical significance was set at P < 0.05.

Results: The findings revealed significant associations between FSS and psychological distress, particularly anxiety (r = 0.507, P = 0.038) and depression (r = 0.595, P = 0.012). In addition, insomnia (ISI) showed the strongest correlation with fatigue (r = 0.705, P = 0.002), indicating that sleep disturbances may further exacerbate fatigue in women with PCOS.

Conclusion: This study highlights a strong association between psychological distress, insomnia and fatigue in women with PCOS. The findings suggest that higher levels of anxiety, depression and sleep disturbances contribute significantly to fatigue severity, emphasising the need for integrated psychological and sleep management strategies in PCOS care. Further research with larger cohorts and longitudinal designs is necessary to establish causal relationships and develop targeted interventions for improving overall well-being in this population.

The use of gonadotrophin-releasing hormone (GnRH) agonist trigger in GnRH antagonist cycles in in vitro fertilisation (IVF) with elective freeze-all strategy is known to practically eliminate the risk of severe ovarian hyperstimulation syndrome (OHSS). Still, there are few case reports of early-onset severe OHSS development after agonist use for final oocyte maturation. This patient presented in an emergency on post-Ovum pickup (OPU) day 5 with complaints of cough with chest pain. Her ultrasound chest revealed bilateral massive pleural effusion right > left and required pleural tap on day 7 post-OPU. On Ultrasound abdomen, she was found to have B/L enlarged ovaries consistent with post-OPU status with minimal ascites. She was managed conservatively and discharged in stable condition. This case report emphasises that severe OHSS can develop even after agonist trigger with the segmentation of IVF. The best strategy to prevent OHSS is to keep the stimulation to lower side in patients at risk and take all due precautions to prevent the same.

Background: While trophectoderm (TE) biopsy with next-generation sequencing (NGS) remains the gold standard for preimplantation genetic testing for aneuploidy (PGT-A), the discovery of cell-free DNA (cfDNA) in spent culture media (SCM) has sparked interest in non-invasive PGT-A (NiPGT-A) as a potential alternative.

Aim: The study was conducted to assess the feasibility of cell cfDNA from SCM as a tool for NiPGT-A in patients undergoing IVF for advanced age, repeated implantation failure or severe male factor infertility.

Settings and design: This is a prospective study where a total of 44 embryos having TE biopsy for aneuploidy testing and their respective SCM collected at day 5/6 were analysed.

Materials and methods: All aneuploid blastocysts (WB) were subjected to DNA extraction and amplification using Sureplex DNA amplification system followed by library preparation using VeriSeq™ PGS Library Prep kit and sequencing on MiSeq (Illumina, California, USA).

Statistical analysis used: Copy Number Variation visualisation and analysis were carried out using BlueFuse Multi Software (Illumina). The statistical data were analysed by STATA version 14.

Results: Informative results were obtained in 36/44 (81.2%) SCM samples. The reads were analysable in 26 paired (SCM and TE biopsy) samples. Concordant NGS results for both TE biopsy and SCM sample were obtained in 17/26 (65.38%) embryos. The per chromosome concordance rate was 85.13% (487/572) and the sex chromosome concordance rate was 73% (19/26). The sensitivity and specificity of NiPGT-A were 66.6% and 60%, respectively. On comparing the ploidy concordance rate, poor morphology embryos had better, but not statistically significant concordance rate (83.33%) as compared to good morphology embryos (50%, P = 0.16). Although not significant, day 6 embryos had better per chromosome as well as sex chromosome concordance rate as compared to day 5 embryos.

Conclusion: Aneuploidy testing using cf DNA in SCM is a promising technique but needs more research on larger cohort size to improve the sensitivity, specificity and concordance rate.

Background: The SUN5 gene encodes a testis-specific protein required for sperm head-tail connection during spermiogenesis. The SUN5 gene has an established role in the acephalic spermatozoa syndrome (ASS) defect recognised by headless tails, spermatozoa with disrupted head-tail junction and also a few tailless heads in semen.

Aim: This study aims to evaluate the genetic variants of all exons of the SUN5 gene and the protein expression in 10 men with ASS.

Settings and design: This cross-sectional study was conducted on 10 infertile men with ASS as a case group and 10 men with normal spermogram as a control group referred to the Royan institute between 2015 and 2020.

Materials and methods: Polymerase chain reaction and Sanger sequencing were performed on DNA extracted from patients' peripheral blood. In addition, immunocytochemistry and western blotting were accomplished to evaluate the SUN5 protein expression in the patient carrying a distinct exonic variation.

Statistical analysis used: No statistical analysis was needed to be done in this survey.

Results: Sequencing outcomes represented one homozygous missense mutation (c.1073G>A [p.Arg358Gln]) in exon 13 of the SUN5 gene in one patient with 98% acephalic spermatozoa in the total sperm population. This mutation did not exist in the control group. SUN5 protein expression was completely undetectable in the patient with c.1073G>A.

Conclusion: Based on current results, it could be concluded that c.1073G>A detected mutations in the SUN5 gene could alter the SUN5 protein expression and lead to male infertility due to ASS.