hrp0095p1-594 | Thyroid | ESPE2022

Unexpected fast growth velocity in a child with a thyroid hormone receptor beta mutation

Brill Gherta , Abramof Ness Rosane

Resistance to thyroid hormone (RTH) is attributed to mutations in the thyroid receptor beta (RTH-β) gene. The syndrome is characterized by decreased sensitivity of target tissues to thyroid hormone (TH) action, leading to elevated TH levels, accompanied by normal or high thyroid-stimulating hormone (TSH) values, with variable clinical manifestations such as goiter, which is the most common finding, reported in 66–95% of cases and delayed growth and bone maturation, ...