Korean J Intern Med.  2008 Mar;23(1):45-48. 10.3904/kjim.2008.23.1.45.

Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene

• Kim JY
• Choi ES
• Lee JC
• Lee KU
• Kim YJ
• Kim SJ
• Lee YW

• KMID: 1382662
• DOI: http://doi.org/10.3904/kjim.2008.23.1.45

Abstract

Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TRbeta) gene. On the basis of its clinical features, two different forms of this syndrome have been described: generalized resistance and pituitary resistance. A total of 122 TRbeta gene mutations have been identified thus far. A 38-year-old woman presented with intermittent palpitation. Thyroid function tests revealed elevated levels of free T4 and TSH. TSH alpha-subunit levels were 0.41 mIU/mL, and magnetic resonance images of the sellar region evidenced no abnormal findings. The TSH response to TRH stimulation was found to be normal. The sequence analysis of the TRbeta gene verified a missense mutation in exon 11, and the observed amino acid alteration was a substitution of a valine for a methionine at codon 349. We report the first case of a woman with RTH, which was found to be caused by a missense mutation (V349M) in the TRbeta gene.

Keyword

Thyroid hormone resistance syndrome; Thyroid hormone receptors beta; Mutation; Missense

MeSH Terms

Adult
DNA Mutational Analysis
Female
Humans
*Mutation, Missense
Thyroid Function Tests
Thyroid Hormone Receptors beta/*genetics
Thyroid Hormone Resistance Syndrome/*diagnosis/*genetics