Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Insight into the pathogensis of polycystic ovarian syndrome

  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University College of Medicine) ;
  • Lee, Gun Ho (Department of Obstetrics and Gynecology, CHA Gumi Medical Center, CHA University College of Medicine) ;
  • Han, You Jung (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University College of Medicine) ;
  • Cha, Dong Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University College of Medicine)
  • Received : 2020.05.19
  • Accepted : 2020.06.07
  • Published : 2020.06.30
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Abstract

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS has diverse clinical aspects in addition to those diagnostic criteria including increased risk for cardiovascular diseases, metabolic syndrome, dyslipidemia, type 2 diabetes and impaired fertility. Because of the heterogeneity of the disease, the pathogenesis of the disease has not been elucidated yet. Therefore, there is no cure for the endocrinopathy. HA and insulin resistance (IR) has been considered two major pillars of the pathogenesis of PCOS. Recent advances in animal studies revealed the critical role of neuroendocrine abnormalities in developing PCOS. Several pathways related to neuroendocrine origin have been investigated such as hypothalamus pituitary ovarian axis, hypothalamus pituitary adrenal axis and hypothalamus pituitary adipose axis. This review summarizes the current knowledge about the role of HA and IR in developing PCOS. In addition, we review the results of recent genome wide association studies for PCOS. This new perspective improves our understanding of the role of neuroendocrine origins in PCOS and suggest a novel potential therapeutic target for the treatment of PCOS.

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