Syndrome of Generalized (Peripheral Tissue and Pituitary) Resistance to Thyroid Hormone

Abstract

Generalized resistance to thyroid hormone (GRTH), or Refetoff syndrome, is a disease in which peripheral tissues show resistance to thyroid hormone. Three patients with this disease were investigated. Cases 1 and 2 involved identical 7-year-old female twins and case 3, a 5-year-old girl. AU three patients had goiters, and cases 1 and 2 had sensorineural deafness. In all three, the blood levels of T4, free T4, and T3 were high, while the blood levels of TSH were normal or slightly elevated. The responses shown by blood levels of the thyroid hormone and TSH to administration of propylthiouracil and T3 suggest that the regulating mechanism in the hypothalamic-pituitary-thyroid system was functional. Upon administration of T3, no sign of hyperthyroidism was observed.(Acta Paediatr Jpn 1989; 3 1 : 7 12 -720)

Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”

“…Since the initial documentation of RTH induced by a mutation in the TH receptor Beta (TRB) gene 2, over 137 different mutations leading to 40,000 cases of RTH have been identified [2]- [14]. The other two affected steps in RTH involve mutations in genes responsible for TH membrane transport and TH metabolism [3].…”