Endocrine Abstracts

Anaemia in RTHα patients correlates with documented abnormal erythropoiesis and reduced haematocrit in TRα-null or mutant mice, but the underlying mechanisms and characterization of the defect remain elusive. In a previous work, we described that the injection of several hTRα variants in zebrafish eggs caused a marked reduction of circulating erythrocytes at later stages of the erythropoiesis. To characterise the involvement of TRα during erythrocyte develo...

Introduction: Since 2012, different heterozygous mutations in the THRA gene have been described in patients with resistance to thyroid hormone alpha (RTHα). The associating symptoms are reminiscent of untreated congenital hypothyroidism (growth retardation, psycho-neuromotor disorders, delayed bone development and bradycardia) but with raised T3/T4 ratio and normal TSH levels. All genetic abnormalities act in a dominant negative (DN) manner against functional rec...