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首页> 外文期刊>Genetics research international >Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
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Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

机译：PCOS病理生理学中与高雄激素血症相关的遗传变异。

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Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.
机译：多囊卵巢综合征是一种多因素内分泌疾病，其病理生理至今仍困扰着许多研究人员。该综合征的典型特征是无排卵周期和不育，促性腺激素水平改变，肥胖和超声检查的多卵泡卵巢大。高雄激素血症和胰岛素抵抗是其复杂病理生理的标志性特征。高雄激素血症是PCOS的显着特征，并且是造成患病女性多形性异常的主要因素，包括多毛症，痤疮和男性型脱发。患有PCOS的女性中已有的胰岛素抵抗可能导致内源性激素水平升高或激素水平升高。研究报告说，卵巢类固醇生成方式的增加主要归因于卵泡膜细胞肥大和类固醇生成途径中关键酶表达的改变。为了描述基因中多态性的关联，进行了候选基因研究，这些基因在类固醇生成的复杂级联中编码酶或调节循环雄激素的水平和作用，并具有PCOS发生及其相关性状的风险。但是，不一致的发现影响了PCOS易感性的一致接受的遗传标记的出现。在当前的审查中，我们总结了重要的雄激素相关基因多态性在控制PCOS及其相关代谢和生殖性状的遗传易感性方面的影响。

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