| Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone |
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Jin Young Shin1, Chang-Seok Ki2, Jin Kyung Kim1 |
1Department of Pediatrics, Catholic University of Daegu School of Medicine, Korea
2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine |
| 갑상선호르몬 수용체 베타 유전자 돌연변이(H435Y)가 확인된 갑상선호르몬 저항성 증후군 1례 |
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신진영1, 기창석2, 김진경1 |
1대구가톨릭대학교 의과대학 소아과학교실
2성균관대학교 의과대학 삼성서울병원 진단검사의학과학교실 |
Correspondence:
Jin Kyung Kim, Email: kimjk@cu.ac.kr
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| Abstract |
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The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features include elevated serum levels of thyroid hormone (TH), a normal or slightly increased thyrotropin (thyroid stimulating hormone, TSH) level that responds to thyrotropin releasing hormone (TRH), and goiter. We report a 4 year-old girl, who was clinically euthyroid in spite of high total and free T4, and T3 concentrations, while TSH was slightly increased. Sequence analysis of the thyroid hormone receptor beta gene (THRB) confirmed a heterozygous C to T change at nucleotide number 1303, resulting in a substitution of histidine by tyrosine at codon 435 (H435Y). Further analysis of her parents revealed that the H435Y variation was a de novo mutation since neither parents had the variation. Her parents' TH and TSH levels were within normal range. |
| Key Words:
Resistance to thyroid hormone (RTH), Thyroid hormone receptor beta (TRβ), Thyroid hormone receptor beta gene (THRB) |
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