Journal of Human Reproductive Sciences最新文献

Background: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL.

Aims: In this study, the prevalence of some combined parental thrombophilia gene mutation defects was studied in couples with RPL.

Settings and design: The observational study was done in babol infertility research center (Iran) in 2022.

Materials and methods: Sixty-two infertile women with a history of RPL and their male partners (124 individuals) participated in this study. The frequencies of common defects associated with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, factor V Leiden, protein C, protein S and homocysteine were analysed in these couples.

Statistical analysis used: The data were statistically analysed using the Mann-Whitney test.

Results: Sixty-two couples (124 individuals) were analysed. 56.2% of couples with a history of RPL had MTHFR C677T and 23.1% had MTHFR A1298C. Forty percent of couples showed homocysteine deficiency and 12.5% protein C deficiency. Other genes tested were only observed in the mother or father but not both.

Conclusions: Results obtained with RPL couples demonstrate the importance of further investigating combined parental thrombophilia gene mutation defects (not only maternal).

Background: Patients with polycystic ovarian syndrome (PCOS) have unique characteristics depending on its phenotype. Therefore, prediction of controlled ovarian stimulation (COS) response and assisted reproductive technique (ART) outcome in these becomes challenging.

Aims: To assess the outcomes of assisted reproductive technology (ART) in various polycystic ovary syndrome (PCOS) phenotypes and to evaluate the predictive value of anti-Mullerian hormone (AMH) and total testosterone on ART success. Clinical pregnancy rate (CPR) was measured as the primary outcome.

Settings and design: This was a prospective observational study conducted at a tertiary care centre.

Materials and methods: A total of 190 infertile women with PCOS (Rotterdam criteria) were enrolled and were subdivided into four phenotypes. Baseline screening and transvaginal scan were done. All patients underwent COS using antagonist protocol with recombinant follicle-stimulating hormone, and an agonist trigger was given for follicular maturation. One or two blastocysts were transferred in a frozen-thawed embryo transfer cycle. Luteal phase support was given with vaginal progesterone.

Statistical analysis used: For quantitative variables, we employed the Kruskal-Wallis Test with post hoc Tukey's analysis. For continuous or ordinal variables, the Mann-Whitney U test was utilized. The analysis of categorical data was conducted using the Chi-square (χ2) test with SPSS 21 software.

Results: Phenotype A was the most prevalent (37%). CPR was the highest in phenotype D (57.7%), followed by phenotype C (53.06%), A (43%) and B (36%). The mean serum AMH level was the highest in phenotype A (9.7 ± 4.3 ng/dL) and the lowest in phenotype B (5.9 ± 1.8 ng/dL). The mean total testosterone level was 103 ± 15.68 ng/mL in Type A, 109.46 ± 37.08 ng/mL in Type B and 48.52 ± 17.07 ng/ml in Type D.

Conclusion: Phenotype D showed higher CPR and lower miscarriage rate compared to other phenotypes (not significant) and was associated with good clinical outcome. No correlation could be established with serum AMH, total testosterone levels and CPR.

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome.

Aims: This study was set to determine the value of additional genetic studies such as fluorescent in situ hybridisation and the inclusion of buccal cells in search for mosaicism in TS patients.

Settings and design: This cross-sectional, descriptive study was performed in Human Genetics Department, Medical Research Institute, Alexandria University.

Materials and methods: Fluorescence in situ hybridisation technique was applied to lymphocyte cultures as well as buccal smears using centromeric probes for X and Y chromosomes. Genotype phenotype correlation was also evaluated.

Statistical analysis used: Descriptive study where categorical variables were described using number and percentage and continuous variables were described using mean and standard deviation.

Results: Fluorescence in situ hybridisation technique study detected hidden mosaicism in 60% of studied patients; 20% of patients had a cell line containing Y material, while 40% had variable degrees of X, XX mosaicism, and in the remaining 40% no second cell line was detected. Fluorescence in situ hybridisation study helped identify the origin of the marker to be Y in all patients. The introduction of an additional cell line helped in identifying mosaicism in patients with monosomy X. Virilisation signs were only observed among TS patients with Y cell line mosaicism. The clinical manifestations were more severe in patients with monosomy X than other mosaic cases.

Conclusions: Molecular cytogenetic investigation for all suspected cases of TS should be considered for appropriate treatment plan and genetic counselling.

Background: Amongst various other factors, oxygen (O2) concentration in embryo culture plays an important role in determining pregnancy outcomes in women undergoing in vitro fertilisation. Some studies have reported that lowering O2 levels in embryo culture provides better results.

Aims: To explore the effects of low- and ultra-low- O2 concentrations (5% and 2%, respectively) in extended embryo culture on various outcome parameters of pregnancy.

Settings and design: This was a retrospective cross-sectional study.

Materials and methods: In this study 382 participants had their embryos cultured in varying O2 concentrations (5% or 2%), followed by either a fresh embryo transfer (ET) or frozen embryo transfer (FET). Outcomes such as pregnancy rate, implantation rate, abortion rate, twinning rate, and live birth rate were compared between the groups.

Statistical analysis used: Chi square test was applied to compare the primary and secondary outcomes between different groups.

Results: No significant differences were observed in pregnancy rate and implantation rate between 5% and 2% O2 groups, irrespective of their mode of ET. The abortion rate was significantly higher in 5% O2 group than in 2% group during FET (24.71% vs. 11.49%, P = 0.02). While the proportion of good-quality embryos was higher in 5% O2 group, these did not translate to better pregnancy outcomes. Additionally, embryos cultured in 2% O2 concentration had a significantly better implantation rate when they were transferred fresh rather than frozen (71.34% vs. 61.46%, P = 0.04). There were no other differences observed.

Conclusion: Only marginal benefits were observed in switching human embryos to ultra-low O2 concentration after the initial days of culture.

Background: While natural cycle frozen embryo transfer (NC-FET) is becoming increasingly common, significant practice variation exists in the use of ovulation induction medications, administration of ovulation trigger, and timing of embryo transfer without consensus as to the optimal protocol.

Aims: The objective of this study is to evaluate the association of key aspects of the NC-FET protocol with implantation, pregnancy and live birth.

Settings and design: This was a retrospective cohort study of blastocyst stage NC-FET cycles from October 2019 to July 2021 at a single academic fertility centre.

Materials and methods: Protocols varied between cycles across three key parameters which were evaluated as primary predictors of cycle outcomes: (1) use of letrozole for mild ovarian stimulation/ovulation induction, (2) administration of exogenous ovulation trigger versus spontaneous luteinising hormone surge and (3) transfer timing based on ovulation trigger versus sequential progesterone monitoring. Primary outcomes included implantation rate, clinical pregnancy and ongoing pregnancy.

Statistical analysis used: Generalised estimating equations were fitted to obtain adjusted odds ratios or rate ratios as appropriate with 95% confidence intervals for each outcome across the three primary predictors.

Results: A total of 183 cycles from 170 unique patients were eligible for inclusion. The average implantation rate was 0.58, resulting in an overall clinical pregnancy and ongoing pregnancy rate of 59.0% and 51.4%, respectively. After adjusting for age at embryo freeze and history of a failed embryo transfer, there were no significant associations between any predictor and implantation rate, clinical pregnancy, ongoing pregnancy, or live birth.

Conclusion: In NC-FET, a variety of preparation and timing protocols may lead to comparable cycle outcomes, potentially allowing for flexibility on the basis of patient and physician preference. These findings warrant validation in a larger, randomised trial.

Background: Anabolic-androgenic steroids (AASs) are often used by men for bodybuilding and to improve sports performance. The use is not limited to professional competitive athletes, but many amateur men.

Objective: The objective of this study was to assess and systematically review the effects of AAS on male fertility parameters, spermiogram, testosterone, follicle-stimulating hormone (FSH) and luteinising hormone (LH) and to review reversibility and other morbidity impacting fertility.

Methods: Eligibility criteria - We included studies mentioning data about adult males using supraphysiologic doses of AAS for sports performance or appearance enhancement, with comparison data from general population or matched controls if available reporting fertility parameters and sexual performance. Information sources - A systematic literature search was performed using PubMed, MEDLINE, EMBASE, Google Scholar and World of Science. Controlled clinical trials randomised or nonrandomised (if available), case series with or without matched controls, case reports, cross-sectional surveys, reports on follow-up of subjects caught in doping test and their fertility parameters when reported. Risk of bias/quality assessment - The quality assessment of the included studies was performed using the Newcastle-Ottawa Scale.

Results: Included studies - Thirty-two studies were included. There were 12 cohort studies, 5 case-control studies, 9 cross-sectional surveys and 6 case reports. The study population comprised 9371 individuals, of which 2671 were AAS users. Synthesis of results - AAS users had reduced levels of FSH and LH than the naïve population. These levels remained low for 3-6 months after stopping AAS. One year after stopping AAS, the users and naïve population had insignificant differences in FSH and LH values. The total testosterone (TT) levels were comparable in users and naïve populations at baseline, 3 months and 6 months after stopping, but at 1 year, TT values were lower in AAS users. Sperm concentration in AAS users and naïve population was similar, but sperm motility was lower in AAS users. The testicular size was lower in AAS users. The erectile function improved with AAS use, but on withdrawal, there was decreased libido and erectile dysfunction. Most AAS users need additional medications to mitigate detrimental effects on fertility. Description of the effect - AAS use negatively impacted the gonadotrophin levels and had lower sperm motility and testicular size. Strength - Comprehensive review of 32 publications, study population of 9371 individuals, of which 2671 were AAS users, meta-analysis of reproductive hormones, semen parameters and testis size.

Limitations: The limitations are small sample size of most of the studies, polypharmacy, lack of information on dosing and high heterogeneity.

Interpretation: AAS use is d

Background: There is ongoing research to find an optimum modality to predict male fertility potential.

Aims: To compare the semen parameters, sperm DNA damage and seminal metal levels of Zinc, Lead and Aluminium among the male partners of couples with unexplained infertility and men with proven fertility.

Settings and design: Prospective case-control study at a tertiary level teaching hospital.

Materials and methods: One hundred male partners of couples with unexplained subfertility and 50 men with proven fertility were included in the study. Male partners of unexplained infertility couples and fertile men were compared for their semen parameters, sperm DNA Fragmentation Index (DFI) and seminal metal levels in semen.

Statistical analysis used: Chi-square test, Student's t-test, sensitivity and specificity analysis, binomial logistic regression analysis.

Results: Fertile men had statistically significantly higher mean progressive sperm motility than male partners of unexplained infertility (53.12 ± 9.89% vs. 44.81 ± 19.47%, P = 0.005). Semen volume and sperm concentration were comparable among the cases and control population. The mean sperm DFI was significantly lower among fertile men (10.83 ± 6.28 vs. 21.38 ± 10.28, P < 0.0001). Plotting the receiver-operating characteristic curve the threshold for discrimination was calculated to be 18% DFI. The sensitivity specificity and overall accuracy were 43%, 84% and 56.67%, respectively when the DFI cut-off was set at 18%. Zinc concentration in the semen had a strong positive correlation (Point Biserial correlation coefficient = 0.831) with fertility, whereas lead and aluminium had a moderate negative correlation.

Conclusion: Conventional semen analysis had limited differentiating ability for unexplained infertility. The sperm DFI may be employed for explanatory purposes among couples with unexplained subfertility. A lower discriminatory threshold of DFI (18%) has better overall accuracy as opposed to a 30% cutpoint for unexplained subfertility. Among metals, Zinc was strongly correlated with fertility status.