ECEESPE2025 Poster Presentations Thyroid (141 abstracts)
Decoding elevated tsh with normal free t4: a comprehensive guide to differentiation, genetic insights, and diagnostic strategies
Ashraf Soliman 1 , Nada Alaaraj 1 , Abir Ali 1 , Noor Hamed 1 , Shayma Ahmed 1 & Fawzia Alyafei 1
1Hamad Medical Corporation, Doha, Qatar
JOINT950
Background: Elevated thyroid-stimulating hormone (TSH) levels with normal free T4 can result from a variety of physiological or pathological causes. Differentiating these causes is crucial for effective diagnosis and management. Genetic factors further complicate this landscape, requiring careful evaluation using clinical and laboratory data.
Objective: To summarize key genetic factors, physiological and pathological causes, and diagnostic steps associated with high TSH and normal free T4, based on current studies.
Methods: Data from multiple studies were analyzed to identify genetic contributions, differentiate causes, and outline diagnostic steps. Key findings were summarized into structured tables.
Results:
Conclusion: Elevated TSH with normal free T4 is multifactorial, encompassing physiological, pathological, and genetic components. Differentiation relies on targeted diagnostic steps including antibody testing, imaging, and genetic analysis. A structured approach aids in accurate classification and management.
| Category | Focus | Frequency | Key Studies (n) |
| Genetic Factors | TSHR, DUOX2, PAX8 mutations | Rare | 15 studies (n = 3,150) |
| Deiodinase polymorphisms (DIO1, DIO2) | 10–15% | 8 studies (n = 1,100) | |
| Thyroglobulin mutations (TG) | Rare | 4 studies (n = 700) | |
| Physiological | Transient elevation, lab variability | 10–20% | 18 studies (n = 3,200) |
| Pathological | Subclinical hypothyroidism, autoimmune | 20–35% | 28 studies (n = 3,500) |
| Cause Type | Specific Cause | Description |
| Physiological | Stress, lab variability | Non-pathological causes such as stress or circadian changes in TSH levels. |
| Pathological | Autoimmune, medications | TSH elevation due to thyroid dysfunction, drug side effects, or pituitary issues. |
| Step | Action | Purpose |
| Autoantibody Testing | Measure anti-TPO and anti-thyroglobulin antibodies | Detect autoimmune thyroid disease |
| Ultrasound | Evaluate for structural abnormalities | Identify nodules or Hashimoto’s thyroiditis |
| Thyroid Function Tests | Repeat TSH and free T4 levels | Rule out transient changes |
| Family History & Genetics | Investigate familial patterns and genetic mutations | Uncover hereditary causes |
| Exclude Secondary Causes | Review medications and iodine exposure | Identify non-thyroidal factors |
Volume 110
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Endocrine Abstracts
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