Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) gene

Pajek, Maja (avtor), Avbelj Stefanija, Magdalena (avtor), Trebušak Podkrajšek, Katarina (avtor), Šuput Omladič, Jasna (avtor), Žerjav-Tanšek, Mojca (avtor), Battelino, Tadej (avtor), Grošelj, Urh (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: thyroid, resistance to thyroid hormones, RTHβ, thyroid hormone receptor, THRB, hypothyroidism, hypercholesterolemia
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 6 str.
• Številčenje: Vol. 56, iss. 12, art. 699
• PID: 20.500.12556/RUL-134843
• UDK: 616-053.2ž
• ISSN pri članku: 1648-9144
• DOI: 10.3390/medicina56120699
• COBISS.SI-ID: 45814787
• Datum objave v RUL: 04.02.2022

Gradivo je del revije

• Naslov: Medicina
• Založnik: MDPI
• ISSN: 1648-9144
• COBISS.SI-ID: 6754623

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 15.12.2020

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: J3-2356
• Naslov: Izražanje in funkcionalna analiza nekodirajočih RNA pri parkinsonovi bolezni

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih