The importance of thyroid hormones in the regulation of development, growth, and energy metabolism is well known. Over the last decades, mass spectrometry has been extensively used to investigate thyroid hormone metabolism and to discover and characterize new molecules involved in thyroid hormones production, such as thyrotropin-releasing hormone. In the earlier period, the quantification methods, usually based on gas chromatography–mass spectrometry, were complicated and time consuming. They were mainly focused on basic research, and were not suitable for clinical diagnostics on a routine basis. The development of the modern mass spectrometers, mainly coupled to liquid chromatography, enabled simpler sample preparation procedures, and the accurate quantification of thyroid hormones, of their precursors, and of their metabolites in biological fluids, tissues, and cells became feasible. Nowadays, molecules of physiological and pathological interest can be assayed also for diagnostic purposes on a routine basis, and mass spectrometry is slowly entering the clinical laboratory. This review takes stock of the advancements in the field of thyroid metabolism that were carried out with mass spectrometry, with special focus on the use of this technique for the quantification of molecules involved in thyroid diseases.

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质谱在甲状腺疾病诊断和甲状腺激素代谢研究中的应用

甲状腺激素在调节发育、生长和能量代谢中的重要性是众所周知的。在过去的几十年中，质谱已被广泛用于研究甲状腺激素代谢，并发现和表征参与甲状腺激素产生的新分子，例如促甲状腺激素释放激素。在早期，通常基于气相色谱-质谱法的定量方法复杂且耗时。它们主要侧重于基础研究，不适合常规进行临床诊断。现代质谱仪的发展，主要与液相色谱法相结合，使样品制备程序更简单，甲状腺激素及其前体的准确定量，以及它们在生物体液、组织和细胞中的代谢物变得可行。如今，生理学和病理学上的分子也可以在常规基础上用于诊断目的，质谱法正在慢慢进入临床实验室。本综述评估了质谱法在甲状腺代谢领域取得的进展，特别关注使用该技术对甲状腺疾病相关分子进行量化。