Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

31 May 2007

Thyroid hormone resistance without mutations in thyroid hormone receptor beta

Yvonne Bottcher, Thomas Paufler, Thomas Stehr, Frank Ludwig Bertschat, Ralf Paschke, Christian A Koch

DOI: 10.12659/MSM.484143

Med Sci Monit 2007; 13(6): CS67-70

Abstract

Background: Resistance to thyroid hormone (RTH) is a rare autosomal dominant disorder that leads to elevated free thyroid hormone levels in the presence of normal or increased serum thyroid-stimulating hormone (TSH) concentrations if it is generalized because both the pituitary and peripheral tissues are then partially resistant. In approximately 85% of patients with RTH, mutations in the thyroid hormone receptor beta (TRbeta) gene can be identified.
Case Report: A 68-year-old German man presented for surgical hernia repair. He was found to have elevated free T[sub]3[/sub] and T[sub]4[/sub] plasma concentrations in coexistence with goiter, unsuppressed TSH, arterial hypertension, and arthritis urica/gout. An electrocardiogram showed a normal sinus rhythm with 69 beats per minute. There were neither signs or symptoms of hyper- or hypothyroidism nor psychological abnormalities. Generalized RTH was suspected.
Conclusions: Generalized RTH should be considered in patients presenting with elevated free thyroid hormone levels and normal or increased TSH concentrations, especially if these patients appear clinically euthyroid. Signs and symptoms of hyper- and hypothyroidism should be evaluated to assure that these patients are candidates for surgical procedures such as hernia repair. Subsequent mutation analysis of the TRbeta gene should be conducted to help identify family members. In approximately 15% of patients, mutations in the TRbeta gene cannot be identified and raise the possibility of mosaicism.

Keywords: Mutation - genetics, Thyroid Gland - pathology, Thyroid Hormone Receptors beta - genetics, Thyroid Hormone Resistance Syndrome - genetics

0 Comments

Editorial

01 December 2022 : Editorial  

Editorial: The World Health Organization (WHO) Fungal Priority Pathogens List in Response to Emerging Fungal Pathogens During the COVID-19 Pandemic

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.939088

Med Sci Monit 2022; 28:e939088

SARS-CoV-2/COVID-19

29 November 2022 : Clinical Research  

Retrospective Study to Identify Risk Factors for Severe Disease and Mortality Using the Modified Early Warn...

Med Sci Monit In Press; DOI: 10.12659/MSM.938647  

24 November 2022 : Clinical Research  

A Prospective Questionnaire-Based Study to Evaluate Factors Affecting the Decision to Receive COVID-19 Vacc...

Med Sci Monit In Press; DOI: 10.12659/MSM.938665  

01 November 2022 : Clinical Research  

Questionnaire-Based Study of 81 Patients in Poland to Evaluate the Course of Inflammatory Bowel Disease and...

Med Sci Monit 2022; 28:e938243

In Press

05 Dec 2022 : Database Analysis  

Impact of the De Ritis Ratio on the Prognosis of Patients with Stable Coronary Artery Disease Undergoing Pe...

Med Sci Monit In Press; DOI: 10.12659/MSM.937737  

02 Dec 2022 : Clinical Research  

Value of Early Laparoscopic Exploration for Primary Infertile Patients with Patent Fallopian Tubes Complica...

Med Sci Monit In Press; DOI: 10.12659/MSM.938637  

30 Nov 2022 : Clinical Research  

Retrospective Evaluation of Hematological and Clinical Factors Associated with 30-Day Mortality in 170 Pati...

Med Sci Monit In Press; DOI: 10.12659/MSM.938674  

29 Nov 2022 : Clinical Research  

Retrospective Study to Identify Risk Factors for Severe Disease and Mortality Using the Modified Early Warn...

Med Sci Monit In Press; DOI: 10.12659/MSM.938647  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788

30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

01 Nov 2020 : Review article  

Long-Term Respiratory and Neurological Sequelae of COVID-19

DOI :10.12659/MSM.928996

Med Sci Monit 2020; 26:e928996

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750