Polycystic Ovary Syndrome (PCOS): An Overview and Our Experience
Keywords:Advanced Glycation End products, Androgens, Anti-Mullerian Hormone, Bisphenol A, Epigenetic Associations, Genetic Associations, Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is the most common reproductive endocrine disorder in women of reproductive age. PCOS is characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovary morphology. The PCOS is known for more than 100 years; however, many areas of PCOS such as diagnosis, etiology, clinical features, and treatment are still debatable. This review aims to provide an overview of the historical evolution, diagnosis, biomarkers, and etiologic associations of PCOS as of today. A brief review of publications on PCOS and our research experience on PCOS are combined. All available biomarkers/associations implicated with PCOS, like androgens (testosterone, free androgen index, DHEAS, androstenedione, dihydrotestosterone), LH, 17-OH Progesterone, anti-Mullerian Hormone (AMH), inhibin B, leptin, insulin, interleukins, advanced glycation end product (AGE), bisphenol A (BPA), kisspeptin, melatonin, etc., besides genetic and epigenetic factors, associated with PCOS are briefed, along-with our research experience. The most acceptable consensus in naming the syndrome is Polycystic Ovary Syndrome (PCOS) and consensus diagnostic criteria presently followed are Rotterdam 2003 criteria with phenotypic classification (NIH 2012 criteria). Ideal androgen, method of estimation and its cut-off value is still a subject of controversy. DHT, an androgen, seems promising. The best available biomarker associated with PCOS could be AMH. Environmental contaminants such as bisphenol A and AGEs, and endogenous factors such as kisspeptin and melatonin have strong association with PCOS. Epigenetic alterations affecting various pathways (metabolic, steroid biosynthesis, ovarian function, AGE/RAGE, AMPK, inflammatory, etc.) and pathogenic variants of various genes (INSR, IRS1, GHRL, LDLR, MC4R, ADIPOQ, UCP1, UCP2, UCP3, FTO, PCSK9, FBN3, NEIL2, FDFT1, PCSK9, CYP11, CYP17, CYP21, HSD17, STAR, POR, AKR1C3, AMH, AMHR2, INHBA, AR, SHBG, LHR, FSHR, FSH β, SRD5A, GATA4, THADA, YAP1, ERBB2, DENND1A, FEM1B, FDFT1, NEIL2, TCF7L2, etc.) in some PCOS cases may be linked as underlying etiopathology. PCOS is a complex heterogeneous disorder, with genetic susceptibility besides environmental and epigenetic influences.
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