早发性卵巢功能不全(POI)是以性激素紊乱和卵泡耗竭为病理特征的生殖内分泌疾病,临床表现为不孕和围绝经期综合征,其病因具有高度异质性,大部分病因至今尚未阐明.代谢组学通过先进的化学分析技术对细胞、组织以及体液的代谢物进行高通量表征.代谢物作为分子调控的下游产物可直接揭示上游基因和蛋白的功能,同时反映生物表型的变化.POI与内分泌代谢紊乱密切相关,因此,研究POI的代谢谱特征以及代谢通路对于阐明疾病的发病机制至关重要.本文从代谢组学概述、POI的代谢特征、代谢标志物及代谢通路等方面总结代谢组学在POI中的应用及研究进展,旨在从代谢角度探索POI的诊断标志物和发病机制,为临床诊疗提供新的见解.
Premature ovarian insufficiency(POI)is a reproductive endocrine disease characterized by sex hormone disorder and follicle depletion,resulting in infertility and perimenopausal syndrome.The etiology of POI is highly heterogeneous,with most causes remaining unknown.Metabolomics offers high-throughput characterization of metabolites in cells,tissues,and body fluids through advanced chemical analysis techniques.As downstream products of molecular regulation,metabolites can directly reveal the functions of upstream genes and proteins,as well as reflect changes in biological phenotypes.POI is closely associated with endocrine and metabolic disorders,making it crucial to investigate the metabolic profile of POI in order to understand its pathogenesis.This paper summarizes the application and research progress of metabolomics in POI from the perspectives of metabolomics overview,metabolic characteristics,metabolic markers,and metabolic pathways,in order to explore the diagnostic biomarkers and pathogenesis of POI from a metabolic perspective,providing new insights for clinical diagnosis and treatment.