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Volume 56
Issue 12
10.3390/medicina56120699
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Case Report

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene

by
Maja Pajek
1,
Magdalena Avbelj Stefanija
2,3,
Katarina Trebusak Podkrajsek
2,3,
Jasna Suput Omladic
2,3,
Mojca Zerjav Tansek
2,3,
Tadej Battelino
2,3 and
Urh Groselj
2,3,*
1
Department of Paediatric Surgery and Intensive Care, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia
2
Department of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia
3
Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Medicina 2020, 56(12), 699; https://doi.org/10.3390/medicina56120699
Submission received: 6 November 2020 / Revised: 11 December 2020 / Accepted: 14 December 2020 / Published: 15 December 2020
(This article belongs to the Special Issue Thyroid Disorders: Pathogenesis, Diagnosis, Impact on Health and Therapies)
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Abstract

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.
Keywords: thyroid; resistance to thyroid hormones; RTHβ; thyroid hormone receptor; THRB; hypothyroidism; hypercholesterolemia thyroid; resistance to thyroid hormones; RTHβ; thyroid hormone receptor; THRB; hypothyroidism; hypercholesterolemia

Share and Cite

MDPI and ACS Style

Pajek, M.; Avbelj Stefanija, M.; Trebusak Podkrajsek, K.; Suput Omladic, J.; Zerjav Tansek, M.; Battelino, T.; Groselj, U. Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene. Medicina 2020, 56, 699. https://doi.org/10.3390/medicina56120699

AMA Style

Pajek M, Avbelj Stefanija M, Trebusak Podkrajsek K, Suput Omladic J, Zerjav Tansek M, Battelino T, Groselj U. Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene. Medicina. 2020; 56(12):699. https://doi.org/10.3390/medicina56120699

Chicago/Turabian Style

Pajek, Maja, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, and Urh Groselj. 2020. "Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene" Medicina 56, no. 12: 699. https://doi.org/10.3390/medicina56120699

APA Style

Pajek, M., Avbelj Stefanija, M., Trebusak Podkrajsek, K., Suput Omladic, J., Zerjav Tansek, M., Battelino, T., & Groselj, U. (2020). Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene. Medicina, 56(12), 699. https://doi.org/10.3390/medicina56120699

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