Approximately 15% of the world's couples suffer from infertility during their reproductive period of which the male factor is responsible for 50% of cases. Male factor infertility is multifactorial in origin, and sperm DNA fragmentation (SDF) has also been linked to male infertility including idiopathic male infertility. Some degree of controlled DNA nicking is essential for adequate DNA compaction, but excessive SDF is usually associated with reduced male fertility potential, reduced fertilisation, poor embryo quality, recurrent pregnancy loss and poor assisted reproductive techniques (ARTs) outcomes. Although semen analysis remains the gold standard for diagnosis of male factor infertility worldwide, its limitations motivated the search and the development of complementary tests of sperm function and integrity. SDF assay is an emerging diagnostic tool in infertile men, and several indications for SDF testing in infertile couples have also been proposed. The use of SDF in routine male infertility assessment is, however, still controversial. Furthermore, both direct and indirect SDF tests are now available. Hence, the present review was conducted to summarise the recent evidence of SDF, underlying mechanisms, clinical indications, diagnostic tests, as well as the role of SDF in male factor infertility, pregnancy and ART outcomes.

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Background: Infertility is a world-wide problem and one third females. Over the years, anti-mullerian hormone (AMH) has emerged as a major marker of ovarian reserve. There is also increasing interest in determining the factors which can impact AMH levels. Aims: To correlate the association of reproductive and lifestyle factors on AMH levels in women of Indian origin. Settings and Design: Multicentric cross sectional study. Materials and Methods: The study was conducted using data extracted from the patient records of seven private fertility practices located in North India. Women who were attending these clinics for fertility treatment were requested to fill the questionnaire related to reproductive and lifestyle factors. Statistical Analysis used: Our outcome variable was level of AMH measured in the past 3 months, and was assessed as normal or low. All analyses were conducted using STATA 17. Results: We found a direct association of low AMH with increasing age, short cycles, amenorrhea and women with family history of premature menopause. We found a direct correlation of high AMH and women with polycystic ovary syndrome and those whose partners had Oligoasthenoteratozoospermia (OATS) or azoospermia. There was no correlation with smoking, sleep, diet, body mass index, cell phone or laptop use in our study. Conclusion: Reproductive and lifestyle factors may affect ovarian reserve and but there was a dearth of human studies in this area. To the best of our knowledge this is the first human study on the effect of AMH on Laptop and Cell phone use. We urgently need more studies to confirm or refute our findings so that we can counsel our patients well.

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46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients. An extensive review of the literature for 46,XX male sex reversal syndrome cases related to infertility was also performed to fully characterise this syndrome. Genetic analyses showed translocation of the SRY on Xp chromosome and complete absence of all Azoospermia factor (AZF) genetic regions. All patients included in the review presented hypergonadotropic hypogonadism. Small testes were the most common clinical characteristic present in 90.2% of the patients, followed by small penis (31.8%), gynecomastia (26.8%) and poor hair distribution (15.4%). The presence of the SRY was identified in 130/154 (84.4%) patients: in 98.5% of cases, it was translocated on the Xp chromosome and in 1.5% on an autosome. All patients were azoospermic, due to the lack of AZF genetic regions. Males with normal phenotype and primary hypogonadism should be properly evaluated by the physicians and must be referred for cytogenetic and molecular analysis to exclude or confirm 46,XX male sex reversal syndrome. More cases of this syndrome with SRY translocated on an autosome are needed to identify if these patients have different characteristics than those with SRY translocated on Xp chromosome. Whole genome analysis of these patients is required to elucidate the genetic differences which are responsible for the phenotypic variability of the syndrome.

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Background: Polycystic ovary syndrome (PCOS) is a state of chronic low-grade inflammation. Low-grade inflammation has been linked to the development of cardiovascular disease (CVD). There is evidence of clustering for metabolic syndrome, hypertension, dyslipidaemia in type 2 diabetes mellitus and insulin resistance (IR) in mothers, fathers, sisters and brothers of women with PCOS. Aims: The aim is to study the levels of inflammatory markers and IR in first-degree relatives of patients with PCOS and find any correlation with hormonal parameters, metabolic parameters and adiposity indices in them. Settings and Design: A total of 66 first-degree relatives of a patient with PCOS were included in this cross-sectional study. Materials and Methods: All participants underwent detailed clinical evaluation and biochemical investigations, including high-sensitivity C-reactive protein (hsCRP), interleukin 6 (IL-6), luteinising hormone (LH), follicle-stimulating hormone (FSH) and total testosterone (only in females). Homeostasis model assessment of IR (HOMA-IR), lipid accumulation product and visceral adiposity index were calculated using standard equations. Visceral adipose tissue thickness and subcutaneous adipose tissue thickness were assessed using ultrasonography. Statistical Analysis Used: Spearman's and Pearson's correlation coefficients were used to analyse the correlation between different non-parametric and parametric data, respectively. Multiple linear regression was used to correlate multiple dependent factors. Results: The mean hs-CRP level was 2.4 ± 1.1 mg/L, which is greater than the cut-off of 2 mg/L and hs-CRP >2 mg/L was found in 62% (n = 41) participants. The mean IL-6 (3.5 ± 1.1 pg/ml) and total white blood cell count (7244 ± 2190/mm³) were in the normal range. The mean HOMA-IR was 2.35 ± 0.76, which is elevated, considering HOMA IR >2 as a predictor of IR and metabolic syndrome. HOMA IR >2 was found in 64% (n = 42) of the participants. Inflammatory markers were significantly correlated with LH and HOMA IR, even after multiple linear regression was fitted for each marker individually. Conclusion: Apparently, healthy first-degree relatives of PCOS patients had evidence of chronic low-grade inflammation. The chronic inflammation in them correlated well with HOMA-IR and LH but was independent of body mass index. This low-grade inflammation may predispose the first-degree relatives of PCOS to CVD.

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Background: Progesterone-primed ovarian stimulation (PPOS) protocol is based on the principle of preventing pre-mature luteinising hormone surge during ovarian stimulation using progesterone. Aims: In this study, we aimed to compare the cost-effectiveness of PPOS over GnRH antagonist cycles in oocyte donor cycles where freeze all is a norm. Settings and Design: It is a prospective cohort study with 130 participants. Materials and Methods: We included all women undergoing oocyte donation using PPOS protocol and antagonist protocol at our centre. Fifty-seven belonged to the PPOS group and were given medroxyprogesterone acetate (MPA) and 73 belonged to the GnRH antagonist group who received cetrorelix. The primary outcome was the number of mature oocyte retrieved at OPU and the cost involved per stimulation cycle. Statistical Analysis Used: For normally distributed observations, we used t-test, and for the variables of non-normal distribution, Mann–Whitney U-test was used. The significance was accepted for P < 0.05. Results: The baseline clinical characteristics of the donors were comparable with a mean age of 25.42 ± 2.90 years, body mass index of 24.00 ± 4.00 kg/m² and antral follicle count of 18.63 ± 5.23. The duration of stimulation was similar in both the groups as well as the total gonadotropin dose required was not significantly different. The number of mature oocytes retrieved was same in both the groups (10.41 ± 4.04 with antagonist and 10.25 ± 3.23 with PPOS, P = 0.964). There were no reported cases of severe ovarian hyperstimulation syndrome (OHSS) in any of the groups. The incidence of mild-to-moderate OHSS in the antagonist group was 5.4% and in the PPOS group was 3.6%, and the difference was not significant (P = 0.69). The cost per mature oocyte (M2) was significantly higher in the antagonist protocol in comparison to the PPOS protocol (INR 9485.69 ± 5751.11 vs. Rs. 5945.86 ± 2848.59, respectively, P < 0.001). Conclusion: Our study identifies PPOS protocol using MPA to be more cost-effective and patient-friendly than conventional GnRH antagonist protocol in oocyte donor cycles.

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Background: Polycystic ovary syndrome (PCOS), a common endocrine disorder affecting 5%–10% of reproductive age women worldwide, associated with various metabolic morbidities. One potential molecular mechanism could be epigenetic modifications, such as deoxyribonucleic acid (DNA) methylation. Aims: The aim is to determine the association of global DNA methylation in peripheral blood leucocyte (PBL) cells and PCOS women. Also to assess abnormal lipid profile, insulin resistance, gonadotropins and reproductive markers in them. Settings and Design: The study design involves a hospital-based prospective case–control study. Materials and Methods: Fifty women with PCOS, diagnosed as per Rotterdam criteria and the rest 50 without PCOS or any disease, attending outpatient department were recruited. Serum biochemical markers and Global DNA methylation assay were done by using standardised kit. Statistical Analysis Used: Data were compared using Independent t-test or Mann–Whitney U test using IBM SPSS version 26.0. P < 0.05 was considered statistically significant. Results: Majority, 72% of PCOS and 82% non-PCOS women were between 20 and 25 years. Most common presenting symptom was menstrual irregularity. Women with PCOS have high serum cholesterol and triglyceride level, elevated serum luteinising hormone (LH), follicle-stimulating hormone (FSH), LH/FSH ratio and testosterone but low estradiol levels as compared to non-PCOS. Statistically significant high mean Global DNA methylation percentage was found in PBLs of women with PCOS. Conclusion: Despite study limitations, this study provided insight into Global DNA methylation in PBLs was associated with PCOS. It requires further research to better understand the influence of epigenetic factors including genome-wide DNA methylation profiling in PCOS development.

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Background: Polycystic ovary syndrome (PCOS) is a common endocrinopathy whose heterogeneous genetic basis results in a variable clinical presentation. One of the main clinical features of PCOS is hyperandrogenism which occurs due to dysregulation of ovarian and adrenal steroidogenesis. Aims: This study aimed to investigate potentially pathogenic variants in steroidogenic genes associated with PCOS. Settings and Design: This was a hospital-based observational study. Materials and Methods: We recruited 51 women who presented with PCOS. Fasting blood samples were drawn from the participants and their whole-exome sequencing analysis was carried out to look for pathogenic variants involved in steroidogenic pathways. The variants were predicted for their probable deleterious effects on proteins through in silico prediction tools. We evaluated the variants with respect to the hormonal characteristics and clinical outcomes of the patients. Statistical Analysis Used: All variables were analysed using GraphPad Prism 8. Kruskal–Wallis t-test and Fisher's exact test were used to compare clinical parameters and frequency differences among PCOS patients with and without variants. Results: The data presented here reveal eight heterozygous exonic variants, namely CYP21A2 (p.Ala392Thr, p.Gln319Ter and p.I143N), steroidogenic acute regulatory (p.Arg53 Leu), AKR1C3 (p.Phe205Val), P450 oxidoreductase (p.Val334Ile and p.Val251Met) and HSD17B6 (p.Gly40Ser), of which three were pathogenic, and four variants of uncertain significance in 8 out of 51 patients (15.68%). The identified variants were predicted to cause protein destabilisation, thus likely contributing to the pathogenesis of PCOS. Some of the variants showed significant differences between PCOS patients and population database (P < 0.05). Conclusion: The results of this study add to the mutational spectrum of steroidogenic genes and their association with PCOS.

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Interstitial and cornual pregnancies are dangerous, yet rare, forms of ectopic pregnancy, accounting for 2%–4% of all ectopic pregnancies. A 38-year-old female, para 1, gravida 3 had undergone another in vitro fertilisation (IVF) cycle (a salpingectomy performed elsewhere for treating a hydrosalpinx before a previous IVF attempt). Duration of pregnancy is 6 weeks and 5 days, a transvaginal ultrasound revealed an embryo with a positive foetal heartbeat, located in the left cornuum. As no conservative treatment option could be followed, we proceeded with laparoscopic removal of ectopic pregnancy through cornual resection. Since a specific surgical methodology has not yet been established, presenting more step-by-step surgical approaches that can be used in clinical practice is of high importance. We present a step-by-step surgical approach that we have implemented in cases of cornual pregnancy in our department.

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Background: Assessment of male fertility needs evaluation of sperm quality parameters, namely sperm count, viability, motility and morphology. Aims: The present study aimed to analyse and correlate oxidative stress with sperm quality parameters. Settings and Design: The male Wistar albino rats, weighing between 100 and 150 g, were employed in the present study under the Committee for the Purpose of Control and Supervision of Experiments on Animals guidelines with ethical clearance from the Institutional Ethical Committee. These rats were categorised into four groups with six rats in each as control and test animals. Materials and Methods: Young male Wistar albino rats, weighing between 100 and 150 g, were divided into four groups of six rats each. The first group of rats served as control (n = 6) and was maintained under normal laboratory condition and was provided with clean drinking water, whereas rats in the second (n = 6), third (n = 6) and fourth (n = 6) groups were orally intubated with sodium fluoride of 100 ppm, 200 ppm and 300 ppm, respectively, for 40 days. Statistical Analysis Used: After the treatment period of 40 days, animals were sacrificed and alterations in sperm quality parameters were analysed by complete randomised design SAS 9.4 and Statistical Package for the Social Sciences (SPSS) IBM 17 and judged significant if P < 0.05. Results: In the experiment, a negative correlation emerged between sperm motility, viability, count versus malondialdehyde (MDA) levels, whereas the level of MDA has a positive correlation with sperm abnormalities. Sperm motility, viability and count were positively correlated with activities of superoxide dismutase and catalase, whereas decreased activities of antioxidants were related to increased sperm morphological abnormalities. Conclusion: These results suggest that MDA causes a decline in sperm motility, count and viability and an increase in morphological abnormalities via oxidative damage of membrane lipids.

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Rearranged X chromosomes in Turner syndrome (TS) generally present with a mild phenotype, but in cases of ring X chromosomes, the incidence of intellectual disability and other congenital abnormalities can be significantly higher depending on the size of the ring and the involvement of X-inactive specific transcript (XIST) region. Here, we report a 17-year-old female who was referred for a cytogenetic analysis because of primary amenorrhoea. The patient, of normal intelligence, had been found to have traits of TS, especially short stature and some rare findings such as horseshoe kidney and short fourth toe. Cytogenetic analysis showed a mosaic 45, X/46, X and r(X) karyotype. Fluorescence in situ hybridisation analysis using sex chromosome probes permitted us to identify the marker as a ring X chromosome, detected in 30% of cells. The r(X) might include the XIST locus, which would have caused X-inactivation of this abnormal ring chromosome leading to mild phenotype in our patient but with atypical features present in the form of horseshoe kidney and short fourth toe.

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Background: Infertility is a global health issue. The variation in the prevalence of unexplained infertility is attributed to the choice of investigation. There remains a knowledge gap on the impact of minimal and mild endometriosis on treatment outcomes following intrauterine insemination (IUI). Aim: The aim of this study was to compare treatment outcomes following ovarian stimulation (OS) and intrauterine insemination (IUI) between minimal and mild endometriosis versus unexplained infertility. Settings and Design: A retrospective analysis of women undergoing OS with intrauterine insemination during the year 20142020 in the Department of Reproductive Medicine and Surgery, Christian Medical College, Vellore, was considered for the study. Materials and Methods: Women with minimal and mild endometriosis or unexplained infertility diagnosed by diagnostic hysterolaparoscopy were included for the analysis. Univariate and multivariate analysis was done. The primary outcome was live birth rate (LBR) per cycle. The secondary outcomes measured were clinical pregnancy rate (CPR) , cumulative LBR (CLBR) per women, cumulative CPR (CCPR) per women and miscarriage rate. Statistical Analysis Used: The baseline parameters were compared using a t-test for continuous data, and categorical data were compared using the Chi-square/Fisher's exact test as appropriate. The outcomes were assessed using logistic regression analysis and expressed as odds ratio (OR) with 95% confidence intervals (CI). Results: There were no significant differences in CPR per cycle (14.28% vs. 18.8%, OR: 0.71; 95% CI: 0.401.28) and LBR per cycle (14.28% vs. 16.6%, OR: 0.84; 95% CI: 0.461.51) between the endometriosis and unexplained infertility groups. The cumulative LBR per woman and CCPR per woman also did not show any significant difference in between the two groups. Conclusion: The current study did not find any significant differences in cumulative LBR and CPR following OS-IUI in women with minimal or mild endometriosis and unexplained infertility.

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Background: Puberty is a critical process for the development of sexual organs and reproductive ability. It is triggered and regulated by the hormones. Rosuvastatin can delay the onset of puberty through the inhibition of cholesterol and androgen biosynthesis. On the other hand, montelukast has protective effects against various diseases and against reproductive toxicity induced by other medications, but its effects on puberty have not been studied. Aims: Assessment of the protective effect of montelukast against rosuvastatin-induced delayed puberty. Settings and Design: At the university. Materials and Methods: Eighteen male Wistar rats aged 30 days and weighted 50–60 g were distributed to three groups (six rats per group) and intraperitoneally administered every day for 5 days with 0.2 ml of distilled water as control, 10 mg/kg of rosuvastatin and with rosuvastatin + montelukast (10 mg/kg for each drug). These animals' groups were euthanised on day 50 of age to assess the effect of rosuvastatin alone and with montelukast on the serum levels of the reproductive hormones and histological manifestations and morphometric measurements of the testes. Statistical Analysis Used: One-way analysis of variance and Bonferroni multiple tests were performed to analyse the findings using the GraphPad Prism software. Results: Treatment of rats with rosuvastatin showed a significantly decreased level of testosterone and luteinising hormone as well as histopathological and morphometric alterations in the testicular tissues in comparison with the control. Interestingly, co-treatment of rosuvastatin with montelukast could not reverse or mitigate these changes induced late puberty. Conclusion: There is no protective effect of montelukast against rosuvastatin-induced delayed puberty.

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Background: Over half of all fatal complications occur during primary laparoscopic entry. In our practice, we developed a novel modification of closed LUQ entry at Palmer's point and designated it “E-Z” entry. Aims: To evaluate the risks and safety of left subcostal entry, a technique we have designated 'E-Z' entry at our institution. Settings and Design: A retrospective chart review was conducted at a tertiary care medical centre of patients who underwent laparoscopic procedures by a single surgeon known to perform left subcostal entry for the last 10 years, using the E-Z entry technique. Materials and Methods: Retrospective chart review and description of surgical technique. Statistical Analysis Used: Simple descriptive statistics and univariate two-group comparisons. Results: One hundred ninety-eight laparoscopic cases were identified as performed by a single surgeon in the last 10 years: 149 underwent umbilical entry and 49 underwent E-Z entry. The average number of previous abdominal surgeries was higher in the E-Z entry group compared to the umbilical group, 1.3 versus 0.5, respectively (P = 0.003). The umbilical entry group had no complications. One complication was noted with the E-Z entry technique, in which the Veress needle was noted to perforate the liver capsule but was managed expectantly. Conclusion: We propose the E-Z entry technique for Veress needle entry as an ergonomic and easily reproducible entry technique in the left upper quadrant in the setting of suspected intraperitoneal adhesions.

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Background: The duration of cryopreservation of embryos and its effect on the subsequent pregnancy outcomes, when they have been frozen for a longer duration remains a matter of concern. There is a continuous debate among studies comparing different durations of embryo cryopreservation as the results are contradictory. Aims: This study aims to find out if long-term cryopreservation of embryos has any effect on pregnancy and perinatal outcomes. Settings and Design: Retrospective cohort study was conducted in the department of reproductive medicine and surgery in a university-level teaching hospital. Materials and Methods: The study included women who underwent frozen embryo transfer (FET) from autologous in vitro fertilisation between January 2012 and December 2020 with the duration of cryopreservation of more than 5 years as one group and 3–5 years as another group. Pregnancy and perinatal outcomes were analysed. Statistical Analysis Used: Regression analysis was performed using logistic regression by entering clinically important variables associated with pregnancy outcome, and the results were expressed as odds ratio with a 95% confidence interval (CI). All statistical analysis was performed with SPSS (version 21.0, IBM, USA). Results: A total of 1680 FET cycles were carried out during the study period. Among these, 75 cycles with a duration of 3–5 years and 20 cycles with a duration of more than 5 years were included. Live birth rate (LBR) was 40.8% in the 3–5 years group and 35% in the more than 5 years group. After adjusting for important confounders, the LBR has no significant association in the more than 5 years group (adjusted odds ratio 1.07; 95% CI 0.34–3.32; P = 0.913) compared to the 3–5 years group. Conclusion: The duration of cryopreservation of embryos has no statistically significant effect on the pregnancy and perinatal outcomes.

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Background: The association between cumulative live birth rate (CLBR) and oocyte aspiration in the context of maternal age is not well understood in the Indian population. Aims: To find the relationship between CLBR and a single oocyte aspiration. Settings and Design: This is a retrospective study analysing the data of 1989 women who underwent in vitro fertilisation (IVF) between January 2015 and December 2019, at Gunasheela Surgical and Maternity Hospital, India. Materials and Methods: Participants were divided into two groups based on age: ≤35 (group I, n = 1665) and >35 (Group II, n = 324). CLBR per single oocyte aspiration in fresh and subsequent three frozen embryo transfer cycles was estimated. Statistical Analysis Used: Logistic regression analysis was used to show the likelihood of pregnancy rate, and CLBR per aspiration after treatment was represented as odd's ratios (OR) with 95% confidence intervals. Results: Maximal CLBR for Groups I and II was 81.25% with >25 oocytes and 75% with 16–20 oocytes, respectively. In the fresh ET cycle, maximal pregnancy and live birth rates were observed in 6–10 oocytes for Group I (54% and 41%) and in 16–20 oocytes for Group II (75% and 75%). The ORs for pregnancy rate (P = 0.01) and CLBR (P = 0.007) increased with an increase in the number of oocytes retrieved. The ORs for pregnancy rate and CLBR for Group II were 0.68 (P = 0.002) and 0.58 (P = 0.00002), respectively as compared to Group I. Optimal oocytes required to achieve positive IVF outcomes in fresh/frozen ET cycles were low in Group I (6–10 oocytes), but higher in Group II (16–20 oocytes). Conclusion: Robust positive relationship was observed between the number of oocytes retrieved and CLBR in women of both age groups.

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