Skorodok Y L, Grabchak T S, Plotnikova E V, Suspitsin E N, Ioffe I Y, Kozhevnikova A V, Zabinsky V D, Ivanov D O
Saint-Petersburg State Pediatric Medical University.
Probl Endokrinol (Mosk). 2025 Jul 22;71(3):62-67. doi: 10.14341/probl13541.
Thyroid hormone resistance (THR) syndrome is characterized by decreased sensitivity of peripheral tissues to active forms of thyroid hormones. We present a clinical case of a patient, demonstrating symptoms of hypothyroidism while having subnormal FT4 and normal TSH and total T3 levels. Massive parallel sequencing allowed us to identify a previously undescribed heterozygous THRA c.1198C>G (p.Leu400Val) variant that arose de novo. The results of genetic testing corresponded well with the patient's phenotype that made it possible to verify the diagnosis of THR. Levothyroxine replacement therapy did not resulted in a significant clinical improvement; the use of supraphysiological doses led to refinement of the lipid profile but was accompanied by the appearance of some symptoms of thyrotoxicosis.
甲状腺激素抵抗（THR）综合征的特征是外周组织对活性形式的甲状腺激素敏感性降低。我们报告了一例患者的临床病例，该患者表现出甲状腺功能减退的症状，同时游离甲状腺素（FT4）水平低于正常，促甲状腺激素（TSH）和总三碘甲状腺原氨酸（T3）水平正常。大规模平行测序使我们鉴定出一个新出现的、此前未描述的杂合THRA c.1198C＞G（p.Leu400Val）变异。基因检测结果与患者的表型高度相符，从而得以证实THR的诊断。左甲状腺素替代治疗并未带来显著的临床改善；使用超生理剂量虽使血脂谱得到改善，但同时出现了一些甲状腺毒症症状。
