Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.
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 (TR beta) 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 TR beta 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 a-subunit levels were 0.41 mlU/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 TR beta 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 TR beta gene.
Kim
Ji Yon
JY
Department of Internal Medicine, Soonchunhyang University Medical College, Cheonan, Korea.
Choi
Eun Suk
ES
Lee
Jong Chan
JC
Lee
Kyung Uk
KU
Kim
Yeo Joo
YJ
Kim
Sang Jin
SJ
Lee
Yong Wha
YW
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D013960:Thyroid Function Tests; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis* / Q000235:genetics*
D037042:Thyroid Hormone Receptors beta