Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
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Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THRβ confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
Abstract
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THRβ confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
참고문헌 (13)
- Weiss RE, "Resistance to thyroid hormone", Rev Endocr Metab Disord, 1, pp.97~108 (2000)
- Lafranchi SH, "Follow-up of newborns with elevated screening T4 concentrations", J Pediatr, 143, pp.296~301 (2003)
- Refetoff S, "Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination", Best Pract Res Clin Endocrinol Metab, 21, pp.277~305 (2007)
- Refetoff S, "Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone", J Clin Endocrinol Metab, 27, pp.279~294 (1967)
- Rebaï M, "Genetic features of thyroid hormone receptors", J Genet, 91, pp.367~374 (2012)
- Moran C, "An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α", J Clin Endocrinol Metab, 98, pp.4254~4261 (2013)
- van Mullem AA, "Clinical consequences of mutations in thyroid hormone receptor-α1", Eur Thyroid J, 3, pp.17~24 (2014)
- 김희경, "A Case of Resistance to Thyroid Hormone with Thyroid Cancer", Journal of Korean Medical Science, 25(9), pp.1368~1371 (2010), 대한의학회
- Ji Hye Kim, "A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor- Gene in a Korean Family with Generalized Thyroid Hormone Resistance", Journal of Korean Medical Science, 22(3), pp.560~563 (2007), 대한의학회
- Seo JY, "A case of thyroid hormone resistance (RTH).", J Korean Soc Pediatr Endocrinol, 10, pp.100~104 (2005)
- Beck-Peccoz P, "Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis", Best Pract Res Clin Endocrinol Metab, 20, pp.529~546 (2006)
- Amor AJ, "Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone", Hormones, 13, pp.74~78 (2014)
- Anselmo J, "Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine", Thyroid, 14, pp.71~74 (2004)