婴儿新型甲状腺激素受体α基因(pC380SfsX9)突变的早期诊断与治疗。
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
机构信息
Department of Medicine, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Department of Medicine, University of Chicago, Chicago, Illinois, USA.
出版信息
Thyroid. 2021 Jun;31(6):1003-1005. doi: 10.1089/thy.2020.0695. Epub 2020 Dec 11.
Resistance to thyroid hormone alpha (RTHα) is caused by mutations in thyroid hormone receptor α (). Little is known about the natural history and treatment of RTHα, and diagnosis before the age of 1 year has not been previously reported. A heterozygous mutation (pC380SfsX9) was identified in a 10-month-old female investigated for developmental delay, hypotonia, macrocephaly, and severe constipation. Treatment with levothyroxine was accompanied by an appropriate rise in thyroxine (T4), triiodothyronine (T3), as well as decrease in thyrotropin levels and in the T3/T4 ratio with a trend toward normalization of peripheral markers of thyroid hormone action. pC380SfsX9 results in extreme RTHα.
抗甲状腺激素α（RTHα）是由甲状腺激素受体α（）突变引起的。人们对 RTHα 的自然病史和治疗知之甚少，此前也没有报道过 1 岁前的诊断。一名 10 个月大的女性因发育迟缓、低张力、大头畸形和严重便秘接受检查，发现存在甲状腺激素受体α的杂合突变（pC380SfsX9）。用左甲状腺素治疗后，甲状腺素（T4）、三碘甲状腺原氨酸（T3）水平升高，促甲状腺激素水平以及 T3/T4 比值下降，甲状腺激素作用的外周标志物呈正常化趋势。pC380SfsX9 导致极端 RTHα。
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