Resistance to TSH that results from mutations in TSHR causes overt or subclinical congenital hypothyroidism (SCH). Tenenbaum-Rakover et al. now demonstrate that thyroid hormone levels remain stable in patients with heterozygous TSHR mutations who have SCH, but can decline progressively in some patients with homozygous TSHR mutations, which necessitates treatment with levothyroxine.
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Schoenmakers, N., Chatterjee, V. TSHR mutations and subclinical congenital hypothyroidism. Nat Rev Endocrinol 11, 258–259 (2015). https://doi.org/10.1038/nrendo.2015.27
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DOI: https://doi.org/10.1038/nrendo.2015.27
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