20.500.12556/RUL-134843 Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) gene 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 pathognomonic with elevated free thyroxin (fT4) levels and high or normal thyrotropin (TSH) levels; free triiodothyronin (fT3) levels may also be elevated. We present three siblings with THRB mutation (heterozygous disease-variant c.727C>T, p.Arg243Trp); two of them also had hypercholesterolemia, while all three had several other clinical characteristics of RTHβ. This is the first description of the known Slovenian cases with RTHβ due to the pathogenic mutation in the THRB gene. Hypercholesterolemia might be etiologically related with RTHβ, since the severity of hormonal resistance varies among different tissues and hypercholesterolemia in patients with THRB variants might indicate the relatively hypothyroid state of the liver. We suggest that cholesterol levels are measured in all RTHβ patients. thyroid resistance to thyroid hormones RTHβ thyroid hormone receptor THRB hypothyroidism hypercholesterolemia true false true Angleški jezik Ni določen Članek v reviji 2022-02-04 09:50:54 2022-02-04 09:50:56 2022-09-14 04:10:17 0000-00-00 00:00:00 2020 0 0 6 str. iss. 12, art. 699 Vol. 56 2020 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2ž 1648-9144 10.3390/medicina56120699 45814787 RAZ_Pajek_Maja_2020.pdf RAZ_Pajek_Maja_2020.pdf 1 DD88A265AD996C4153B4C2FA201E2356 e44bb73b5b4029f0de9f6b131f632ffd375a06865c8a69e9ae653083b5b5786a c57d405e-8597-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153535 https://www.mdpi.com/1648-9144/56/12/699 0 7bd58fe3-8597-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153534 Medicinska fakulteta 0 0 0