Tay Chau Thien, Garrad Rhonda, Mousa Aya, Bahri Mahnaz, Joham Anju, Teede Helena
Monash Centre for Health Research and Implementation, School of Public Health and Preventive Medicine, Monash University, Victoria, Australia.
Department of Endocrinology and Diabetes, Monash Health, Victoria, Australia.
J Endocrinol. 2023 Apr 28;257(3). doi: 10.1530/JOE-22-0232. Print 2023 Jun 1.
Polycystic ovary syndrome (PCOS) affects 8-13% of reproductive-aged women, impacts biopsychosocial factors and creates a significant health-related economic burden across the reproductive, metabolic and psychological spectrum of complications. Despite being a heterogenous condition, recent genomic studies indicate that PCOS, regardless of diagnostic criteria and clinical features, shares similar underlying biologic mechanisms. However, recent advances have shown that clinical reproductive and diagnostic features are poorly correlated to genotypes and do not represent true phenotypes. Until we have a better understanding of genetic and epigenetic influences on PCOS and long-term outcomes, targeted treatment is limited. In the interim, a unified approach to integrate evidence, optimise management and guide future research in PCOS is necessary. This has motivated an international collaboration to develop an International Evidence-Based PCOS Guideline to improve health outcomes in women with PCOS. Dissemination and translation of the guideline into health policy and clinical practice are crucial steps to close the knowledge--practice gap, guide future research and enhance positive impact on the health of women with PCOS. Here, we review the (i) understanding of aetiology and genetics of PCOS; (ii) development and translation efforts of the 2018 International Evidence-based PCOS Guideline; (iii) current progress and plans for the guideline update, including the involvement of an early career researcher network to assist with evidence synthesis and (iv) the opportunity to target and guide future research for PCOS.
多囊卵巢综合征(PCOS)影响8% - 13%的育龄女性,对生物心理社会因素产生影响,并在生殖、代谢和心理等一系列并发症方面造成重大的健康相关经济负担。尽管PCOS是一种异质性疾病,但最近的基因组研究表明,无论诊断标准和临床特征如何,PCOS都具有相似的潜在生物学机制。然而,最近的进展表明,临床生殖和诊断特征与基因型的相关性较差,并不代表真正的表型。在我们更好地理解基因和表观遗传对PCOS及其长期预后的影响之前,靶向治疗是有限的。在此期间,需要一种统一的方法来整合证据、优化管理并指导PCOS的未来研究。这促使开展了一项国际合作,以制定《基于国际循证的PCOS指南》,以改善PCOS女性的健康结局。将该指南传播并转化为卫生政策和临床实践是缩小知识与实践差距、指导未来研究以及增强对PCOS女性健康的积极影响的关键步骤。在此,我们回顾:(i)对PCOS病因和遗传学的理解;(ii)《2018年基于国际循证的PCOS指南》的制定和转化工作;(iii)指南更新的当前进展和计划,包括早期职业研究人员网络参与协助证据综合;以及(iv)针对并指导PCOS未来研究的机会。