Korean J Med.  2011 Jun;80(Suppl 2):S220-S226.

Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene

• Lim SK
• Kim SY
• Kang JG
• Kim CS
• Ihm SH
• Yoo HJ
• Lee SJ

Abstract

In thyroid hormone resistance syndrome (THR) TSH levels are normal or elevated despite thyroid hormone levels being elevated. THR is distinguished from TSH-producing pituitary adenoma by TRH stimulation and alpha-subunit tests, thyroid hormone receptor (TR) beta gene analysis, and sellar MRI. A 24-year old man with diffuse goiter visited our hospital complaining of fatigue, heat intolerance, palpitation, and weight loss. He had elevated total T3 and free T4 levels, but normal TSH levels. Serum TSH levels during TRH stimulation tests performed before and after T3 suppression showed normal and non-suppressible responses, respectively. The serum basal alpha-subunit test result was normal. A TR beta gene R438H mutation was identified, and a pituitary mass with cystic change was identified by sellar MRI. We report a case of THR with a mutation (R438H) in the TR beta gene, the first case of its kind in Korea.

Keyword

Thyroid hormone resistance syndrome; Thyroid hormone receptors beta

MeSH Terms

Fatigue
Genes, erbA
Goiter
Hot Temperature
Korea
Pituitary Neoplasms
Receptors, Thyroid Hormone
Thyroid Gland
Thyroid Hormone Receptors beta
Thyroid Hormone Resistance Syndrome
Weight Loss
Receptors, Thyroid Hormone
Thyroid Hormone Receptors beta