[Familial generalized thyroid hormone resistance. Report of one case]

Rev Med Chil. 2004 Sep;132(9):1096-9.
[Article in Spanish]

Abstract

Thyroid 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Family Health
  • Humans
  • Male
  • Receptors, Thyroid Hormone / genetics*
  • Thyroid Gland / diagnostic imaging
  • Thyroid Gland / pathology
  • Thyroid Hormone Resistance Syndrome / diagnosis*
  • Thyroid Hormone Resistance Syndrome / genetics
  • Thyroid Hormones / blood
  • Thyroid Hormones / genetics*
  • Ultrasonography

Substances

  • Receptors, Thyroid Hormone
  • Thyroid Hormones