Evaluation of Thyroid Hormone Action in a Case of Generalized Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Heterozygous Missense Mutation (G347A)
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- SATO Haruhiro
- Department of Medicine, Tokai University School of Medicine
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- KOIKE Yoko
- Department of Medicine, Tokai University School of Medicine
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- HONMA Masashi
- Department of Medicine, Tokai University School of Medicine
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- YAGAME Mitsunori
- Department of Medicine, Tokai University School of Medicine
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- ITO Koichi
- Ito Hospital
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Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of variable tissue hyporesponsiveness to thyroid hormone (TH). Its characteristics are a high level of TH and inappropriate lack of TSH suppression. RTH is mainly categorized as generalized RTH (GRTH), pituitary RTH (PRTH), and peripheral tissue RTH (PTRTH). Untreated subjects with GRTH usually achieve a normal metabolic state. We describe a 21-year-old Japanese woman with GRTH and coincidental chronic thyroiditis. Physical examination revealed palpable goiter, congenital alopecia on top of the head, and short stature. She showed elevated levels of free triiodothyronine (FT3) and free thyroxine (FT4), and an inappropriately normal level of TSH. Anti-thyroglobulin and anti-thyroid peroxidase antibodies were positive. A TRH stimulation test showed a normal TSH response. The patient received the standardized diagnostic protocol, administration of incremental doses of liothyronine (L-T3). The peak TSH level after the TRH stimulation test gradually decreased. The patient showed low sensitivity to TH in terms of bone metabolism, protein catabolism, lipid metabolism, and urine magnesium metabolism. Sequence analysis of the TR β gene was performed with informed consent, and this revealed a novel heterozygous mutation at codon 347 resulting in a GGG (glycine) to GCG (alanine) substitution (G347A). The patient was diagnosed as having GRTH with chronic thyroiditis, and carrying a novel mutation, G347A, of the TR β gene.<br>
収録刊行物
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- Endocrine Journal
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Endocrine Journal 54 (5), 727-732, 2007
一般社団法人 日本内分泌学会
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詳細情報 詳細情報について
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- CRID
- 1390001206298884736
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- NII論文ID
- 10020092874
- 130004443310
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- NII書誌ID
- AA10901436
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- ISSN
- 13484540
- 09188959
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
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- 使用不可