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Article

Effective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance.

Endocrine - 1 Aug 2024

Carbone A, Verrienti A, Cito D S, Sponziello M, Pecce V, Bruno R

Abstract excerpt

Resistance to thyroid hormone (RTH) is a rare autosomal dominant disease characterized by an alteration of thyroid hormone negative feedback, usually as a consequence of a mutation in the thyroid hormone receptor-b gene (THRβ). It is characterized by high variability of clinical manifestations, ranging from isolated abnormal thyroid function tests without symptoms to severe and impaired clinical conditions. Here...

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PMID: 38558372
DOI: 10.1007/s12020-024-03795-3

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