• Jinhua Feng, Shuangzhu Lin, Wei Wang, Qiandui Chen, Wanqi Wang, Jiayi Li, and Xinyao Wang.
• Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China.
• Medicine (Baltimore). 2023 Apr 25; 102 (17): e33587e33587.

IntroductionThyroid hormone resistance (RTH) (mim # 188570) is a rare autosomal dominant genetic disorder characterized by reduced thyroid hormone response in target tissues. The clinical manifestations of RTH vary from no symptoms to symptoms of thyroid hormone deficiency to symptoms of thyroid hormone excess.Patient Concern And Clinical FindingsA 24-month-old girl presented with growth retardation, tachycardia, and persistently elevated thyroid hormones despite antithyroid treatment.Diagnosis/Intervention/OutcomesThe patient was diagnosed with RTH, after whole exon gene sequencing, found a de novo missense mutation (c.1375T > G,p.Phe459Val) in a novel locus of the thyroid hormone receptor beta gene. She had only mild growth retardation, so the decision was made to monitor her development without intervention. At her last follow-up at 5 years and 8 months of age, she continued to show growth retardation (-2 standard deviation below age-appropriate levels), in addition to delayed language development. Her comprehension ability and heart rate have remained normal.ConclusionsWe report a mild case of RTH caused by a novel thyroid hormone receptor beta gene mutation. RTH should be considered in the differential diagnosis of abnormal serum thyroxine levels during neonatal screening.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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