Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene.
- Author:
Soo Kyung LIM
1
;
Seong Yeol KIM
;
Jun Goo KANG
;
Chul Sik KIM
;
Sung Hee IHM
;
Hyung Joon YOO
;
Seong Jin LEE
Author Information
1. Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea. leesj@hallym.ac.kr
- Publication Type:Case Report
- Keywords:
Thyroid hormone resistance syndrome;
Thyroid hormone receptors beta
- MeSH:
Fatigue;
Genes, erbA;
Goiter;
Hot Temperature;
Korea;
Pituitary Neoplasms;
Receptors, Thyroid Hormone;
Thyroid Gland;
Thyroid Hormone Receptors beta;
Thyroid Hormone Resistance Syndrome;
Weight Loss
- From:Korean Journal of Medicine
2011;80(Suppl 2):S220-S226
- CountryRepublic of Korea
- Language:Korean
-
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.
