Genetic, Hormonal, and Metabolic Aspects of PCOS: An Update

    July 2016 in “ Reproductive Biology and Endocrinology ”
    Vincenzo De Leo, Maria Concetta Musacchio, Valentina Cappelli, Maria Giulia Massaro, Giuseppe Morgante, Felice Petraglia
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    TLDR The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
    The 2016 document provides a comprehensive update on Polycystic Ovary Syndrome (PCOS), a multifactorial endocrine disorder affecting 5-10% of women of reproductive age, characterized by symptoms such as oligo/anovulatory cycles, hirsutism, and polycystic ovaries, with a high prevalence of insulin resistance. It discusses the genetic susceptibility with specific gene variants like the 312N variant of the LHCGR gene and fibrillin-3, the hormonal alterations including hypersecretion of luteinizing hormone (LH) and hyperandrogenemia, and the metabolic factors such as insulin resistance and vitamin D deficiency. The document emphasizes insulin resistance as a central factor in PCOS pathogenesis, affecting ovarian steroidogenesis and leading to hyperandrogenism. It also covers the clinical manifestations, risks during pregnancy, and long-term health repercussions, highlighting the importance of early diagnosis and treatment to prevent complications. The document suggests that future research may provide new preventive treatments, particularly during the prenatal period, and that current treatments should focus on controlling metabolic alterations.
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