Resistance to thyroid hormone α, revelation of basic study to clinical consequences

Journal of Pediatric Endocrinology & Metabolism : JPEM
Yaling TangXiaolan Lian

Abstract

In the past 3 years, 15 patients with resistance to thyroid hormone α (RTHα), nine THRA gene mutations have been reported, reforming classification of RTH. RTHα exhibits distinguished clinical manifestations from RTHβ, including growth retardation, skeletal dysplasia, impaired neurodevelopment, cardiovascular dysfunction, constipation and specific thyroid axis type. This review focuses on possible pathogenesis by revelatory basic science of RTHα animal models in vivo, and patients' mutant thyroid hormone receptor α (TRα) in vitro. Clinical manifestations and L-T4 effects are summarized, showing strong correlation to the severity of mutation mostly within the domain which dominated TR interaction with T3 and its corepressors/coactivators. In particular, we propose the diagnosis clues and promising treatment for clinicians.

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Citations

Feb 13, 2019·Hormones : International Journal of Endocrinology and Metabolism·Ozlem KorkmazSukran Darcan
Jun 14, 2020·International Journal of Molecular Sciences·Marco GiammancoItalia Di Liegro
Nov 13, 2020·Italian Journal of Pediatrics·Hongping SunChao Liu

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Methods Mentioned

BETA
exome sequencing
PCR
immunoprecipitation
transgenic

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