Background: Polycystic ovarian syndrome (PCOS) is the most common metabolic disorder in the reproductive age group, the pathogenesis of which is constantly evolving with the discovery of novel molecules and the lookout for potential therapeutic targets.
Aims: The aim of the present study was to estimate the circulating levels of serum adiponectin in patients with PCOS compared to controls and to find its correlation with markers of cardiovascular risk, with special emphasis on circulating levels of oxidised low-density lipoprotein (oxLDL).
Settings and design: In this cross-sectional observational study recently diagnosed, PCOS subjects were compared with age- and body mass index (BMI)-matched controls.
Materials and methods: All the included subjects underwent detailed clinical, biochemical and hormonal evaluation, including lipid profile, 75 g oral glucose tolerance test, fasting serum insulin, fasting serum adiponectin, oxLDL, total testosterone and anti-Mullerian hormone.
Statistical analysis used: Appropriate statistical methods were performed using SPSS (version 21) and Microsoft Excel (2019).
Results: A total of 56 PCOS cases and 32 controls were included in the study. Mean values of serum adiponectin (μg/mL) in our study were found to be significantly lower in PCOS cases (11.53 ± 4.74) versus controls (14.73 ± 5.61) irrespective of BMI. Mean values of serum oxLDL (μg/dL) were found to be higher in PCOS cases (157.96 ± 53.89) versus controls (117.52 ± 45.44), with a significant negative correlation between adiponectin and oxLDL in cases. No difference in levels of adiponectin was found between the different PCOS phenotypes.
Conclusion: Hypoadiponectinaemia was found to be associated with PCOS irrespective of obesity in PCOS subjects. Serum oxLDL can complement adiponectin as early predictor of CV risk in PCOS.
Owing to its simplicity, transvaginal oocyte retrieval (TVOR) has become the standard procedure for oocyte retrieval. Despite being an easy procedure, TVOR is still associated with rare but serious complications. A high index of suspicion is required for early diagnosis of complications. We present two cases of bladder haematoma, which presented to us post-TVOR.
Background: Polycystic ovary syndrome (PCOS) is a complex genetic trait, the pathogenesis of which is governed by an interplay of genetic and epigenetic factors. However, the aetiology of PCOS is not fully understood.
Aims: The objective of this study was to investigate the genetic causes of PCOS by identifying rare variants in genes implicated in its pathophysiology.
Settings and design: This was a hospital-based observational study.
Materials and methods: We used whole-exome sequencing for 52 PCOS women to identify the rare variants in genes related to PCOS pathogenesis. Subsequently, we analysed these variants using in silico prediction software to determine their functional effects. We then assessed the relationship between these variants and the clinical outcomes of the patients.
Statistical analysis used: Student's t-test and Fisher's exact test were used to compare clinical parameters and frequency differences amongst PCOS patients with and without variants.
Results: A total of four rare exonic variants in obesity- and hyperinsulinaemia-related genes including UCP1 (p.Thr227Ile), UCP2 (p.Arg88Cys), IRS1 (p.Ser892Gly) and GHRL (p.Leu72Met) were identified in eight patients. Significant differences were observed between the patients carrying variants and those without variants. PCOS patients with identified variants exhibited significantly higher average body mass index and fasting insulin levels of PCOS subjects with identified variants compared to those without variants (P < 0.05). Additionally, there were significant differences in the variant frequencies of four variants when compared to the population database (P < 0.05).
Conclusion: This study shows a prevalence of rare variants in obesity and hyperinsulinaemia-related genes in a cohort of PCOS women, thereby underscoring the impact of the identified rare variants on the development of obesity and associated metabolic derangements in PCOS women.