Department of Medicine, The University of Chicago, Chicago, Illinois, USA.
USC School of Medicine Greenville Campus Pediatric Endocrinology and Diabetes, Prisma Health-Upstate, Greenville, South Carolina, USA.
Thyroid. 2022 Mar;32(3):336-339. doi: 10.1089/thy.2021.0523.
We report a patient with congenital hypothyroidism due to athyreosis complicated by a heterozygous thyroid hormone receptor beta ( gene mutation (R320L), resulting in a severe resistance to thyroid hormone beta phenotype. The proband inherited the mutant allele from his father, presenting a very mild phenotype. While the precise reason for this discrepancy remains unknown, we postulate the possibility of mutation and mosaicism in the father. Correlating thyrotropin (TSH) with free thyroxine (fT4) allowed us to predict the amount of fT4 required to normalize the proband's TSH, which supported the treatment with high dose of levothyroxine.
我们报告了一例因无甲状腺症导致的先天性甲状腺功能减退症患者，该疾病并发甲状腺激素受体β（基因）突变（R320L），导致严重的甲状腺激素β抵抗表型。先证者从其父亲那里遗传了突变等位基因，表现出非常轻微的表型。虽然这种差异的确切原因尚不清楚，但我们推测父亲可能存在突变和镶嵌现象。将促甲状腺激素（TSH）与游离甲状腺素（fT4）相关联，使我们能够预测出使先证者 TSH 正常化所需的 fT4 量，这支持了使用大剂量左甲状腺素进行治疗。
