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BMC Endocr Disord. 2016 Jan 12;16:1. doi: 10.1186/s12902-015-0081-7.

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

Author information

1
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. maruo@belle.shiga-med.ac.jp.
2
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. asamim@belle.shiga-med.ac.jp.
3
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. yori708@belle.shiga-med.ac.jp.
4
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. csawai@belle.shiga-med.ac.jp.
5
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. osawa@belle.shiga-med.ac.jp.
6
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. matsui@belle.shiga-med.ac.jp.
7
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, 520-2192, Japan. takeuchi@belle.shiga-med.ac.jp.

Abstract

BACKGROUND:

Resistance 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 PRESENTATION:

The 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.

CONCLUSION:

In 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.

PMID:
26754848
PMCID:
PMC4709977
DOI:
10.1186/s12902-015-0081-7
[Indexed for MEDLINE]
Free PMC Article

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