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用于精准诊断和治疗的多囊卵巢综合征分层

PCOS stratification for precision diagnostics and treatment.

作者信息

Joshi Anagha

机构信息

Computational Biology Unit, Department of Clinical Science, University of Bergen, Bergen, Norway.

出版信息

Front Cell Dev Biol. 2024 Feb 8;12:1358755. doi: 10.3389/fcell.2024.1358755. eCollection 2024.

Abstract

Globally, polycystic ovarian syndrome (PCOS) affects approximately 10% of fertile women, leading to great health and economic burden. PCOS is a heterogenous illness that can cause infertility, irregular menstrual cycles, acne, and hirsutism, among other symptoms. The clinical diagnosis is primarily a diagnosis of exclusion if one or more of the three primary symptoms, namely, oligo- or anovulation, hyperandrogenism, and polycystic ovarian morphology, are present. Obesity and PCOS are often coexisting disorders that may be bidirectionally causally related. Phenotypic heterogeneity throughout the reproductive lifespan, such as the overlap of PCOS symptoms with regular fluctuations in a woman's menstrual cycle and metabolism during the menarche and menopausal transition, further complicates diagnosis. PCOS etiology is mostly unknown and complex, likely due to the fact that it is a group of disorders with overlapping metabolic and reproductive problems. Evidence-based, common, standardized guidelines for PCOS diagnosis and treatment are urgently needed. Genomics and clinical data from populations across diverse ages and ethnicities are urgently needed to build efficient machine learning models for the stratification of PCOS. PCOS subtype-specific strategies for early screening, an accurate diagnosis, and management throughout life will optimize healthcare resources and reduce unnecessary testing. This will pave the way for women to be able to take the best possible care of their own health using the latest clinical expertise combined with their unique needs and preferences.

摘要

在全球范围内,多囊卵巢综合征(PCOS)影响着约10%的育龄妇女,造成了巨大的健康和经济负担。PCOS是一种异质性疾病,可导致不孕、月经周期不规律、痤疮和多毛症等症状。如果存在三个主要症状中的一个或多个,即少排卵或无排卵、高雄激素血症和多囊卵巢形态,则临床诊断主要是排除性诊断。肥胖和PCOS通常是共存的疾病,可能存在双向因果关系。在整个生殖寿命期内的表型异质性,如PCOS症状与女性月经初潮和绝经过渡期月经周期及代谢的正常波动重叠,进一步使诊断复杂化。PCOS的病因大多未知且复杂,这可能是因为它是一组代谢和生殖问题相互重叠的疾病。迫切需要基于证据的、通用的、标准化的PCOS诊断和治疗指南。迫切需要来自不同年龄和种族人群的基因组学和临床数据,以建立有效的机器学习模型用于PCOS分层。针对PCOS亚型的早期筛查、准确诊断和终身管理策略将优化医疗资源并减少不必要的检测。这将为女性能够利用最新的临床专业知识结合自身独特需求和偏好来尽可能地照顾好自己的健康铺平道路。

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