Thyroid hormone resistance syndrome: report of two rare cases
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Keywords

Thyroid resistance syndrome
THRB gene mutation Hội chứng đề kháng hormone tuyến giáp
đột biến gen TRHB

Working Languages

How to Cite

Nguyễn, T. D. (2024). Thyroid hormone resistance syndrome: report of two rare cases. Vietnam Journal of Diabetes and Endocrinology, (65), 100-108. https://doi.org/10.47122/VJDE.2023.65.14

Abstract

Objective: The syndrome of thyroid hormone resistance is characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. Method: We report two cases of thyroid hormone resistance syndrome with the level of TSH that is not correlated with FT4 level. Results: The first case: Mutation c.938T>C (p.Met313Thr) located at THRB exon 10. The second case: Mutation c.1348C > G (L450V) located at THRB exon 11. Conclusion: When approaching a patient with non - specific hyperthyroid state and non - significant correlation between TSH and FT4 level, we should think about the syndrome of inappropriate secretion of TSH, including thyroid hormone resistance syndrome.

https://doi.org/10.47122/VJDE.2023.65.14
pdf (Tiếng Việt)