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

Autor: Yoriko Morioka, Asami Mori, Chihiro Sawai, Yu Mimura, Yoshihiro Takeuchi, Katsuyuki Matui, Yoshihiro Maruo
Rok vydání: 2015
Předmět:
Thyroid Hormone Resistance Syndrome
endocrine system
medicine.medical_specialty
endocrine system diseases
Hormone Replacement Therapy
Endocrinology
Diabetes and Metabolism
DNA Mutational Analysis
Molecular Sequence Data
Case Report
Severity of Illness Index
Thyroid hormone receptor beta
Liothyronine
03 medical and health sciences
0302 clinical medicine
Thyroid hormone receptor β
Internal medicine
medicine
Humans
030212 general & internal medicine
Hormone replacement therapy
Child
Triiodothyronine
Thyroid hormone receptor
Base Sequence
Resistance to thyroid hormone
business.industry
Thyroid
Thyroid Hormone Receptors beta
General Medicine
medicine.disease
Congenital hypothyroidism
medicine.anatomical_structure
Endocrinology
Treatment Outcome
Mutation
Female
business
030217 neurology & neurosurgery
medicine.drug
Hormone
Zdroj: BMC Endocrine Disorders
ISSN: 1472-6823
Popis: 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.
Databáze: OpenAIRE
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