A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.

In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes. PMID: 30747412 [PubMed - as supplied by publisher]
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research