BMC Endocrine Disorders | |
Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report | |
Case Report | |
Asami Mori1  Yoriko Morioka1  Chihiro Sawai1  Yu Mimura1  Katsuyuki Matui1  Yoshihiro Takeuchi1  Yoshihiro Maruo1  | |
[1] Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, 520-2192, Otsu, Japan; | |
关键词: Congenital hypothyroidism; Resistance to thyroid hormone; Thyroid hormone receptor β; Liothyronine; | |
DOI : 10.1186/s12902-015-0081-7 | |
received in 2015-10-03, accepted in 2015-12-27, 发布年份 2016 | |
来源: Springer | |
【 摘 要 】
BackgroundResistance to thyroid hormone beta (RTHβ) is a rare and usually dominantly inherited syndrome caused by mutations of the thyroid hormone receptor β gene (THRB). In severe cases, it is rarely challenging to control manifestations using daily therapeutic replacement of thyroid hormone.Case presentationThe present case study concerns an 8-year-old Japanese girl with a severe phenotype of RTH (TSH, fT3, and fT4 were 34.0 mU/L, >25.0 pg/mL and, >8.0 ng/dL, respectively), caused by a novel heterozygous frameshift mutation in exon 10 of the thyroid hormone receptor beta gene (THRB), c.1347-1357 del actcttccccc : p.E449DfsX11. RTH was detected at the neonatal screening program. At 4 years of age, the patient continued to suffer from mental retardation, hyperactivity, insomnia, and reduced resting energy expenditure (REE), despite daily thyroxine (L-T4) therapy. Every-other-day high-dose liothyronine (L-T3) therapy improved her symptoms and increased her REE, without thyrotoxicosis.ConclusionIn a case of severe RTH, every-other-day L-T3 administration enhanced REE and psychomotor development, without promoting symptoms of thyrotoxicosis. Every-other-day L-T3 administration may be an effective strategy for the treatment of severe RTH.
【 授权许可】
CC BY
© Maruo et al. 2016
【 预 览 】
Files | Size | Format | View |
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RO202311096396978ZK.pdf | 1543KB | download |
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