多囊卵巢综合征作为一种代谢性疾病。

Polycystic ovary syndrome as a metabolic disease.

作者信息

Helvaci Nafiye, Yildiz Bulent Okan

机构信息

Division of Endocrinology and Metabolism, Ankara Ataturk Sanatoryum Training and Research Hospital, Ankara, Turkey.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey.

出版信息

Nat Rev Endocrinol. 2025 Apr;21(4):230-244. doi: 10.1038/s41574-024-01057-w. Epub 2024 Nov 28.

Abstract

Polycystic ovary syndrome (PCOS) is a heterogeneous familial disorder affecting up to one in five women. The aetiology remains unclear, but available evidence suggests it is a polygenic disorder with epigenetic, developmental, and environmental components. The diagnostic criteria for PCOS are based on reproductive features, and the syndrome is categorized into several phenotypes that can vary by race and ethnicity. Insulin resistance and metabolic dysfunction have a crucial role in the pathogenesis of the syndrome and contribute to many adverse metabolic outcomes that place a substantial burden on the health of women with PCOS across their lifespan. Metabolic abnormalities like those identified in women with PCOS are also present in their female and male first-degree relatives. Overall, more emphasis is required on defining PCOS as a metabolic disorder in addition to a reproductive one. This approach could affect the management and future treatment options for the syndrome. The rationale of the current review is to identify and analyse existing evidence for PCOS as a metabolic, as well as a reproductive, disease.

摘要

多囊卵巢综合征(PCOS)是一种异质性家族性疾病,影响着五分之一的女性。其病因尚不清楚,但现有证据表明它是一种具有表观遗传、发育和环境因素的多基因疾病。PCOS的诊断标准基于生殖特征,该综合征可分为几种表型,这些表型可能因种族和民族而异。胰岛素抵抗和代谢功能障碍在该综合征的发病机制中起关键作用,并导致许多不良代谢结果,给患有PCOS的女性一生的健康带来沉重负担。PCOS女性中发现的代谢异常也存在于其一级女性和男性亲属中。总体而言,除了将PCOS定义为一种生殖疾病外,还需要更多地强调将其定义为一种代谢疾病。这种方法可能会影响该综合征的管理和未来的治疗选择。本综述的目的是识别和分析PCOS作为一种代谢性疾病以及生殖性疾病的现有证据。

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