Thyroid Hormone Resistance Syndrome

A genetic disorder with reduced tissue sensitivity to thyroid hormones.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Thyroid Hormone Resistance Syndrome?

Thyroid hormone resistance syndrome is a usually genetic disorder caused by mutations in the THRB receptor in which target tissues respond inadequately to thyroid hormones.

Free T4 and T3 are typically high while TSH is inappropriately normal or elevated.

Most patients are clinically eumetabolic, but some show signs of thyrotoxicosis or hypothyroidism in different tissues.

Symptoms

Tachycardia and palpitations

Goiter detectable on physical examination

Concentration difficulties or symptoms similar to attention deficit disorder

Growth retardation in children

Frequently no clear symptoms in adults

Risk Factors

Family history of thyroid hormone resistance

THRB gene mutations

Autosomal dominant inheritance pattern

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Persistent palpitations and tachycardia
Goiter without an obvious explanation
Inappropriately elevated thyroid hormones with normal or high TSH

Treatment Methods

Symptomatic management with beta blockers

TRIAC, a thyromimetic, in selected cases

Genetic testing to identify the THRB mutation

Family screening because of autosomal dominant inheritance

Avoidance of unnecessary thyroidectomy or radioactive iodine treatment

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.