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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation. | LitMetric

AI Article Synopsis

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215396PMC
http://dx.doi.org/10.1089/thy.2020.0695DOI Listing

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