Metabolomics and Metabolic Endocrine Diseases

Endocrine diseases, characterized by imbalances in hormone production and action, present profound challenges in clinical diagnosis and treatment due to their involvement in intricate metabolic networks. Metabolomics has emerged as a transformative analytical tool capable of precisely detecting minute changes in metabolites across various tissues and fluids. By constructing biochemical alteration profiles specific to particular diseases, metabolomics offers profound insights into disease mechanisms and individual variability that extend far beyond traditional hormone testing. This chapter systematically reviews the research progress of metabolomics across several core endocrine diseases, including diabetes, obesity, thyroid disorders, adrenal diseases, and polycystic ovary syndrome (PCOS). It highlights alterations in key metabolic pathways, such as the elevation of branched-chain amino acids (BCAAs) in diabetes and obesity, and the driving role of gut microbiota-mediated bile acid (BA) dysmetabolism in metabolic disorders. Through the in-depth analysis of metabolic profiles in clinical cohorts and animal models, metabolomics has not only aided in the discovery of novel biomarkers for predicting disease progression (e.g., uracil in gestational diabetes mellitus and 1-deoxydihydroceramide in diabetic neuropathy), but also provided a scientific basis for personalized interventions and therapeutic monitoring within the framework of precision medicine. Together, these findings reveal the central role of metabolic signatures in endocrine pathophysiology, laying the groundwork for the development of targeted, innovative therapeutic strategies in the future.