Article
Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.
Medicina (Kaunas, Lithuania) - 15 Dec 2020
Pajek Maja, Avbelj Stefanija Magdalena, Trebusak Podkrajsek Katarina, Suput Omladic Jasna, Zerjav Tansek Mojca, Battelino Tadej, Groselj Urh
Abstract excerpt
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture of RTHβ is very diverse; the most common findings are goiter and tachycardia, but the patients might be clinically euthyroid. The laboratory findings are almost...
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