Syndrome | Gene | FT4 | FT3 | rT3 | TSH | Other manifestations |
THCMTD | MCT8 (SLC16A2) | ↓ | ↑ ↑ | ↓ | N, sl ↑ | Severe psychomotor impairment. Virtually all affected individuals are male. |
THMD | SBP2 (SECISBP2) | ↑ ↑ | ↓ | ↑ ↑ | N, sl ↑ | Growth delay. |
Thyroid hormone action defects | ||||||
RTH-beta* | TR-beta (THRB) | ↑ ↑ | ↑ N | ↑ ↑ | N, sl ↑ | ADD, tachycardia, goiter. |
NonTR-RTH* | Unknown¶ | |||||
RTH-alpha | TR-alpha (THRA) | ↓ | N, sl ↑ | ↓ | N | Delayed skeletal development, gastrointestinal dysmotility. |
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