J Korean Endocr Soc.  2007 Aug;22(4):277-281. 10.3803/jkes.2007.22.4.277.

A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene

• Park TJ
• Kang JK
• Seo KW
• Kim HJ
• Chung YS
• Lee KW
• Jeong SY
• Kim HJ
• Kim DJ

• KMID: 2063538
• DOI: http://doi.org/10.3803/jkes.2007.22.4.277

Abstract

Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of the thyroid hormone receptor beta (THRB) gene. We report here on a 36-years old male who had mild thyroid goiter and general weakness. The thyroid function test showed elevated levels of total T3 and free T4. The levels of TSH and the free alpha subunit were in normal ranges. Mutation analysis of the THRB gene revealed the missense mutation G345D. We report here on the clinical features and THRB gene mutation analysis of a case of RTH.

Keyword

Hyperthyroidism; Mutation; Syndrome of resistance to thyroid hormone; Thyroid hormone receptor beta gene

MeSH Terms

Adult
Genes, erbA
Goiter
Humans
Hyperthyroidism
Male
Mutation, Missense
Receptors, Thyroid Hormone*
Reference Values
Thyroid Function Tests
Thyroid Gland*
Thyroid Hormone Receptors beta*
Receptors, Thyroid Hormone
Thyroid Hormone Receptors beta

Figure

• 

  Fig. 1 Thyroid scintigraphy with pertechnetate shows cold nodules in both lobes of thyroid and diffuse enlarged both lobes with homogenously increased trapping.

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  Fig. 2 Sellar MRI shows normal size and normal signal intensity of pituitary gland, intact optic chiasm and cavernous sinus.

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  Fig. 3 Sequencing analysis of the thyroid hormone receptor beta gene in a Korean patient with syndrome of resistance to thyroid hormone; sequencing analysis confirmed a heterozygous missense mutation in exon 9 and the amino acid alteration was substitution of a glycine (GGT) for a aspartic acid (GAT) at codon 345.

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