Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report

BMC Endocrine Disorders

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