TRHRgene defects are associated with moderate to mild congenital central hypothyroidism. It has an autosomal recessive inheritance pattern. Patients may display symptoms of hypothyroidism but may also remain asymptomatic. However, treatment of asymptomatic patients is reported to improve their quality of life. Heterozygous carriers of pathogenic TRHRvariants show mild biochemical anomalies (e.g., elevated TSH or isolated hyperthyrotropinemia) but are usually clinically euthyroid.
TRHR