Table 2.
TRα1-PV [21] | TRα1-R384C [23] | TRα1-L400R [22] | TRα1-P398H [19, 22] | |
---|---|---|---|---|
Model | l | 2 | 3 | 4 |
Phenotype | ||||
T3 affinity | lost | reduced | reduced | reduced |
Bone development | dwarfism | growth retardation | dwarfism | normal length |
TSH | elevated | normal in adulthood | normal | elevated |
FT4 | normal | normal in adulthood | normal | slightly elevated |
T3 | elevated | normal | normal | slightly elevated |