Shaaban Zahra, Khoradmehr Arezoo, Jafarzadeh Shirazi Mohammad Reza, Tamadon Amin
Department of Animal Science, College of Agriculture, Shiraz University, Shiraz, Iran.
Research and Clinical Center for Infertility, Yazd Reproduction Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Iran J Basic Med Sci. 2019 Jan;22(1):3-16. doi: 10.22038/ijbms.2018.31776.7646.
Polycystic ovary syndrome (PCOS) is an endocrinopathy in women, which, unlike its impact on fertility and health of women, there is no clear understanding about the causal mechanisms of this pathogenesis. The aim of this review paper is to investigate the pathophysiological pathways affecting the PCOS etiology, based on functions of gonadotropins- and steroid hormones-related genes.
Due to different hormonal and metabolic signs of this complex disorder, different hypotheses are mentioned about etiology of this syndrome. Because of the heterogeneity of the reasons given for this syndrome and the spread of the effective genes in its pathophysiology, most of genes affected by sex-related hormonal imbalances are examined for discriminative diagnosis. For this purpose, published articles and reviews dealing with genetic evaluation of PCOS in women in peer-reviewed journals in PubMed and Google Scholar databases were included in this review.
In previous studies, it has been well demonstrated that PCOS in some individuals have a genetic origin. Pathophysiological functions of genes are primarily responsible for the synthesis of proteins that have role in PCOS before hyperandrogenism including and , and their effects in PCOS of human have been confirmed.
Hormonal imbalances are the first reason mentioned in PCOS etiology, and usually characterized with menstrual irregularities in PCOS women. Hyperandrogenism and gonadotropin secretion disorders are shown in PCOS condition, which are related to steroidogenesis pathways and hypothalamic-pituitary-ovarian axis disturbances, respectively.
多囊卵巢综合征(PCOS)是一种女性内分泌疾病,与它对女性生育能力和健康的影响不同,目前对其发病机制的因果关系尚无明确认识。本综述的目的是基于促性腺激素和类固醇激素相关基因的功能,研究影响PCOS病因的病理生理途径。
由于这种复杂疾病存在不同的激素和代谢体征,关于该综合征的病因有不同的假说。鉴于该综合征病因的异质性以及相关有效基因在其病理生理学中的广泛存在,对大多数受性相关激素失衡影响的基因进行了鉴别诊断研究。为此,本综述纳入了在PubMed和谷歌学术数据库中同行评审期刊上发表的有关女性PCOS基因评估的文章和综述。
在先前的研究中,已充分证明某些个体的PCOS有遗传起源。基因的病理生理功能主要负责在雄激素过多之前参与PCOS的蛋白质合成,如[具体基因1]和[具体基因2],并且它们在人类PCOS中的作用已得到证实。
激素失衡是PCOS病因中首先提到的原因,通常表现为PCOS女性月经不规律。PCOS患者存在高雄激素血症和促性腺激素分泌紊乱,分别与类固醇生成途径和下丘脑 - 垂体 - 卵巢轴紊乱有关。