Endocrinology and Metabolism

Case Reports

A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene.: Tae Jin Park, Joon Koo Kang, Kyoung Woo Seo, Hae Jin Kim, Yoon Sok Chung, Kwan Woo Lee, Seon Yong Jeong, Hyon Ju Kim, Dae Jung Kim; J Korean Endocr Soc. 2007;22(4):277-281. Published online August 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.4.277

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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.

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A Case of Resistance to Thyroid Hormone with Thyroid Cancer
Hee Kyung Kim, Doi Kim, Eun Hyung Yoo, Ji In Lee, Hye Won Jang, Alice Hyun Kyung Tan, Kyu Yeon Hur, Jae Hyeon Kim, Kwang-Won Kim, Jae Hoon Chung, Sun Wook Kim
Journal of Korean Medical Science.2010; 25(9): 1368. CrossRef

A Case of Syndrome of Resistance to Thyroid Hormone Associated with Mutation(M313T) in Thyroid Hormone Receptor Beta Gene.: Jae Kyung Hwang, Kyung Won Kim, Tae Yong Kim, Sang Wan Kim, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Bo Youn Cho; J Korean Endocr Soc. 2003;18(2):206-213. Published online April 1, 2003

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Abstract PDF: Syndrome of resistance to thyroid hormone(RTH) is inherited by an autosomal dominant trait, and characterized by elevated thyroid hormone levels with reduced responsiveness of the pituitary and peripheral tissues to thyroid hormone action. All of the reported RTH patients have various mutations in the ligand-binding domain coding region of the thyroid hormone receptor beta gene. A 21-year-old man visited our hospital complaining of fatigue. He had mild thyroid goiter and intermittent palpitation. Thyroid function test showed elevated total T3, free T4, and TSH levels. Levels of TSH free a-subunit and basal pituitary hormones, except prolactin, were normal. MRI of the sellar region showed no abnormal finding. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequeuce analysis of the thyroid hormone receptor beta gene confirmed a heterozygous missense mutation in exon 9; and the amino acid alteration was a substitution of a threonine(ACG) for a methionine(ATG) at codon313. Sequeuce analysis of the parents showed no mutation.We report the first case of a man with RTH caused by a de novo mutation(M313T) in TRbeta gene, confirmed by sequeuce analysis.

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