Abstract
Thyroid gland is an endocrine gland with vital functions regulating metabolism, growth, and development. The tests used to assess the functions of the thyroid gland include thyroid-stimulating hormone (TSH), free thyroxine, and free tri-iodothyronine. TSH is routinely measured in the clinical laboratory with automated immunoassays to diagnose and monitor thyroid disorders. We present a case wherein the discrepancy between the clinical symptoms and the biochemical test results raised the possibility of methodological interference in laboratory testing, finally leading to a detection of a rare genetic mutation in the patient. This case reiterates that clinical correlation of laboratory results and effective communication between the clinician and the laboratory are imperative for a correct diagnosis and therapeutic interventions.
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