THYROID HYPERFUNCTIONING ADENOMAS WITH AND WITHOUT GSP TSH RECEPTOR MUTATIONS SHOW SIMILAR CLINICAL-FEATURES/

Activating mutations of Gs alpha protein (gsp) and TSH receptor (TSH-R ) identified in autonomously hyperfunctioning thyroid adenomas have be en proposed as the primary event responsible for this disease. Since m utations have not been detected in 100% (ranging from less than 10% to 90%) of the patients, we evaluated whether the presence of gsp and TS H-R mutations cause differences in the clinical and biochemical parame ters of the affected patients. Fifteen consecutive patients (11 women and 4 men) with autonomously hyperfunctioning thyroid adenomas who und erwent thyroidectomy, previously examined for the presence of gsp or T SH-R mutations, were investigated. In all of the patients we examined plasma free T3, free T4, TSH levels and ultrasound volume of the nodul es. The patients with mutations in gsp or TSH-R were similar to the pa tients without mutations for clinical presentation, sex distribution a nd mean age. Furthermore, basal serum FT3, TSH and tumor volume in the patients with mutations were not significantly different from the gro up without mutations. Our preliminary data demonstrate that no signifi cant differences are present in the two groups of patients examined, s uggesting that factors other than gsp or TSH-R mutations play a role i n the clinical presentation of the disease.