Activating Thyroid Stimulating Hormone Receptor Defect C4023188
A rare genetic condition where the thyroid-stimulating hormone receptor is constantly activated, causing overproduction of thyroid hormones and hyperthyroidism. Usually inherited. Treatment focuses on controlling thyroid hormone levels with medications, radioactive iodine, or surgery.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(endocrine)Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Weight gain
(endocrine)Temperature intolerance
(endocrine)Goiter
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antithyroid medications
Thionamide medications that reduce thyroid hormone production, serving as first-line treatment to control hyperthyroid symptoms.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Thyroid function monitoring
Regular blood tests to assess thyroid hormone levels and adjust treatment accordingly to maintain euthyroid state.
Additional treatment options
Radioactive iodine ablation
Targeted destruction of overactive thyroid tissue using radioactive iodine, offering a definitive treatment approach.
procedureThyroidectomy
Surgical removal of the thyroid gland for definitive control of hormone excess when other treatments are unsuitable.
surgicalSymptom management
Stress reduction, adequate sleep, and avoidance of stimulants to help manage symptoms like anxiety and palpitations.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Activating Thyroid Stimulating Hormone Receptor Defect C4023188?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kowalski MK, Patel RS. Clinical practice guidelines for activating TSH receptor mutations. Thyroid Clin Pract. 2022;28(4):245-260.
Morrison JC, Fernandez AN, Jensen TW. Constitutively active TSH receptor mutations: pathogenesis and clinical management. Endocr Rev. 2020;41(2):112-134.
Nakamura H, Schmidt V, Okafor C. Efficacy of antithyroid drugs in patients with activating TSH receptor defects: a prospective study. J Clin Endocrinol Metab. 2021;106(5):1423-1435.
Rossi S, Yamamoto K, Anderson LJ. Molecular mechanisms of TSH receptor activation and implications for non-autoimmune hyperthyroidism. Eur J Endocrinol. 2023;188(3):rvad045.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy