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We report here a male case of autonomous adenoma (AA) in the thyroid that was caused by a somatic heterozygous mutation in the thyroid-stimulating hormone receptor (TSHR) gene at codon 453, which encodes the second transmembrane domain of the protein. This activating mutation of TSHR induced an increase in cell proliferation that resulted in the development of a thyroid goiter. The patient showed symptoms of hyperthyroidism since perinatal age and developed a thyroid goiter at the age of 1 year. Technetium scan showed a hot spot in the right lobe and weak tracer uptake in the left lobe of the thyroid, which were typical findings in AA. He underwent right hemi-thyroidectomy at 1 year and 10 months of age, and attained complete cure after surgery. Keywords: Thyroid-stimulating hormone receptor, Autonomous adenoma, Thyroidectomy