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Original Article

Thyroid peroxidase gene variants and susceptibility to congenital hypothyroidism and autoimmune thyroid disease among Egyptian pediatric cohort

Hala M. Sakhr, Mohammed H. Hassan, Esraa Abbass Abdallah, Amira Mahmoud Ewis, Mohamed Hesham Mohamed, Shymaa Gaber Rizk

Question: Which factors influence pediatric thyroid disorder susceptibility and severity?
Finding: Anemia, selenium deficiency, excess copper, and the thyroid peroxidase (TPO) Arg³⁸⁶His polymorphism, especially with the histidine/histidine genotype, are strongly associated with pediatric thyroid disease and high thyroid-stimulating hormone levels.
Meaning: Pediatric thyroid disorders are multifactorial. The TPO Arg³⁸⁶His variant may help identify children at higher risk of severe thyroid dysfunction, enabling earlier diagnosis, improved risk stratification, and more personalized clinical management.

DOI: https://doi.org/10.3345/cep.2025.02957 [Epub ahead of print]

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