Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions exhibit different patterns of discordant thyroid function associated with multisystem phenotypes. In this context, challenges include ruling out other causes of biochemical discordance, making a diagnosis using clinical features together with the identification of pathogenic variants in causal genes, and managing these rare disorders with a limited evidence base. For each condition, the present guidelines aim to inform clinical practice by summarizing key clinical features and useful investigations, criteria for molecular genetic diagnosis, and pathways for management and therapy. Specific, key recommendations were developed by combining the best research evidence available with the knowledge and clinical experience of panel members, to achieve a consensus.

对甲状腺激素的敏感性受损包括激素进入细胞的运输缺陷、激素代谢减少和对激素作用的抵抗。由遗传性单基因缺陷介导，这些罕见的疾病表现出与多系统表型相关的不同模式的不协调甲状腺功能。在这种情况下，挑战包括排除生化不一致的其他原因，利用临床特征进行诊断，并识别因果基因中的致病变异，以及在有限的证据基础上管理这些罕见疾病。对于每种情况，本指南旨在通过总结关键的临床特征和有用的调查，分子遗传学诊断标准以及管理和治疗途径来告知临床实践。通过将现有的最佳研究证据与专家组成员的知识和临床经验相结合，制定了具体的关键建议，以达成共识。