Article
Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone (Th) resistance and suggestions for differential diagnosis in patients without mutation of Th receptor β.
Clinical endocrinology - 1 Dec 2014
Macchia Enrico, Lombardi Martina, Raffaelli Valentina, Piaggi Paolo, Macchia Lorenzo, Scattina Ilaria, Martino Enio
Abstract excerpt
OBJECTIVE: The syndrome of resistance to thyroid hormone (RTH) is caused by a mutation of TH receptor β (TRβ) in 80% of cases. Patients without mutation (non-TR-RTH) may have a biochemical pattern that is difficult to differentiate from that of pituitary TSH-secreting adenoma (TSHoma). Herein, we report a large monocentric series of RTH focusing on patients with non-TR-RTH, to evaluate possible clinical or...
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