Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

To date, the largest long-term follow-up of patients with TSHR loss-of-function mutations showed a trend toward increased TSH and decreased fT4 over time in homozygous patients, while fT4 levels remained stable in heterozygous carriers, thus giving a perspective on treatment strategies for these patients ( 64 ).

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