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Objective: Polycystic ovarian syndrome (PCOS) is a common cause of ovarian dysfunction in women in reproductive age group. It is now the leading cause of infertility among premenopausal women. PCOS women usually suffer from metabolic disturbances and insulin resistance (IR). Vitamin D has shown a significant role in glucose and insulin metabolism. Correlation studies have been done to examine the role of vitamin D in PCOS. However, still, Vitamin D status in PCOS remains varied. This study is an attempt to find out the association of Vitamin D with etiopathogenesis and metabolic risk factors seen in PCOS. Methods: Hundred subjects (50 PCOS and 50 age-matched normal control) were recruited for the study. Difference in biochemical parameters in PCOS women and normal group was measured, and association of Vitamin D with etiological and biochemical parameters in PCOS was seen. Results: There was a significant (p<0.001) increase in body mass index, serum insulin, fasting blood sugar (FBS), serum cholesterol, triglyceride, and low-density lipoprotein in PCOS. IR was observed in PCOS cases (homeostatic model assessment for β-cell function and IR = 6.40±1.96) compared to the control group (2.43±0.53). Serum 25(OH) Vitamin D3 was significantly decreased in PCOS (9.04±2.60 ng/ml) compared to control group (20.06±3.28 ng/ml). Negative correlation of serum Vitamin D was found with FBS, serum insulin, IR, HI, and serum testosterone. Vitamin D with metabolic parameters also showed a statistically significant negative correlation. Conclusion: Vitamin D deficiency may be a common comorbid manifestation of PCOS. Hence, Vitamin D supplementation may decrease the potential risk of morbidity and mortality associated with PCOS. However, further studies are needed which should include assessment of Vitamin D in women at various stages of PCOS to enhance the temporal order of Vitamin D deficiency in relation to PCOS.

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Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder affecting a significant population of women of reproductive age group worldwide. Due to the complex pathophysiology and overlapping symptoms, this disorder is often difficult to diagnose. Genome-wide association studies have identified several new risk loci and candidate genes for PCOS. However, currently, there are no standard genetic markers for PCOS susceptibility testing owing to the inconsistent findings. Despite the advent of the genomic era, the challenge to identify and pinpoint the heritable genetic basis of PCOS still exists. This mini-review explores the basic definition and phenotypes of PCOS, the different criteria for the diagnosis, the incidence, gestational complications associated with it, the basis of genetic heritability, and the influence of various gene polymorphisms. Also, this review briefly summarises the reports of genome-wide association studies conducted to identify candidate genetic markers to aid in understanding the complex pathophysiology of PCOS.