Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Center for Neuroscience in Women's Health, 401 Quarry Road, Stanford, CA 94305, United States. bowenj@stanford.
Med Hypotheses. 2009 Dec;73(6):996-1004. doi: 10.1016/j.mehy.2008.12.056. Epub 2009 Jun 24.
Polycystic Ovary Syndrome (PCOS) is a polygenic disorder caused by the interaction of susceptible genomic polymorphisms with environmental factors. PCOS, characterized by hyperandrogenism and menstrual abnormalities, has a higher prevalence in women with Bipolar Disorder (BD). Theories explaining this high prevalence have included the effect of PCOS itself or the effect of drugs such as Valproate, which may cause PCOS either directly or indirectly. Incidentally, metabolic abnormalities are observed in both bipolar and PCOS patients. Endophenotypes such as insulin resistance, obesity, and hyperglycemia are common among BD and PCOS patients, suggesting some degree of pathophysiological overlap. Since both BD and PCOS are complex polygenetic diseases, the endophenotype overlap may be the result of common genetic markers. This paper postulates that shared clinical endophenotypes between PCOS and BD indicate common pathophysiological platforms and will review these for the potential of genetic overlap between the two disorders.
多囊卵巢综合征（PCOS）是一种由易感基因组多态性与环境因素相互作用引起的多基因疾病。PCOS 的特征是高雄激素血症和月经异常，在双相情感障碍（BD）女性中的发病率更高。解释这种高发病率的理论包括 PCOS 本身的影响或丙戊酸等药物的影响，丙戊酸可能直接或间接导致 PCOS。顺便说一句，代谢异常在双相情感障碍和 PCOS 患者中都观察到。胰岛素抵抗、肥胖和高血糖等表型在 BD 和 PCOS 患者中很常见，表明存在一定程度的病理生理重叠。由于 BD 和 PCOS 都是复杂的多基因疾病，表型重叠可能是共同遗传标记的结果。本文假设 PCOS 和 BD 之间存在共同的临床表型，这表明存在共同的病理生理平台，并将对这两种疾病之间遗传重叠的可能性进行综述。
