Context: RTHα is a recently discovered resistance to thyroid hormone (RTH) due to mutation of THRA, the gene encoding TRα1, the thyroid hormone receptor. It has been described in a few patients with growth retardation, short stature, and a low free T4/free T3 (FT4/FT3) ratio.
Objective: A 27-year-old patient presenting with dwarfism and a low FT4/FT3 ratio was investigated.