Resistencia generalizada a hormonas tiroideas de carácter familiar

• José M López M ^[1] ; Marcela Jiménez M ^[1] ; Carmen Campino J ^[1]
  1. [1] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 132, Nº. 9, 2004, págs. 1096-1099
• Idioma: español
• Títulos paralelos:
  • Familial generalized thyroid hormone resistance. Report of one case
• Enlaces
  • Texto completo
• Resumen

  • hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)