Table 2.
TFTs | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
FT3 | FT4 | rT3 | TSH | HPT | CNS | Liver | Kidney | Neurological manifestations | Ref. | |
MCT8-deficient patients | ↑↑ | ↓ | ↓↓ | nl, sl↑ | Resistance | Delayed myelination, mild cerebellar atrophy | – | – | Severe psychomotor impairment (no speech, no walk, poor head control) | [2–4,9] |
Mct8 KO mice | ↑↑ | ↓ | ↓↓ | nl, sl↑ | Resistance | ↓ T4, ↓ T3, ↑ D2, ↓ D3; ↓RC3 (Striatalneurons) | ↑ D1; ↑Gsta2, ↑Gpd2 | ↑ T4, ↑ T3, ↑ D1 | nl | [7,8,31] |
Lat2 KO mice | nl | nl | – | nl | nl | nl | nl D1 | nl D1, ↑ Loss of small neutral amino acid | Slight impairment of motor coordination on rotarod (caused by aminoacid abnormalities) | [15] |
Oatp1C1 KO mice | nl | nl | – | – | nl | ↓ T4, ↓ T3, ↑ D2, ↓ D3 | nl D1 | nl D1 | nl | [16▪] |
Mct8/Oatp1C1 DKO mice | – | – | – | – | – | ↓↓ T4, ↓↓ T3, ↑↑ D2; Impaired myelination and neuronal differentiation | – | – | Coordination and locomotor deficit | [42▪▪] |
↓, decreased; ↑, increased; CNS, central nervous system; D1, Type 1 deiodinase; D2, Type 2 deiodinase; D3, Type 3 deiodinase; DKO, double knockout; Gpd2, a-glycerol-3-phosphate dehydrogenase; Gsta2, glutathione S transferasea; HPT, hypothalamic–pituitary–thyroid axis; KO, knockout; nl, normal; sl, slight; TFTs, thyroid function tests.