par Lavard, L;Sehested, A;Brock Jacobsen, Bendt;Muller, J.;Perrild, H;Feldt-Rasmussen, U;Parma, Jasmine 
;Vassart, Gilbert
Référence Hormone research, 51, 1, page (43-46)
Publication Publié, 1999
;Vassart, Gilbert Référence Hormone research, 51, 1, page (43-46)
Publication Publié, 1999
Article révisé par les pairs
| Résumé : | A 18-year clinical follow-up period in a male patient with a germline TSH-R gene mutation (Met453Thr) is described. Nonautoimmune thyrotoxicosis was diagnosed at the age of 7 months. The patient had exophthalmus, failure to thrive, advanced bone age and no goiter. Long-term antithyroid drug treatment (ATD) was necessary during childhood. At the age of 7 years he developed a goiter. Subtotal thyroidectomy was performed at the age of 9 years, followed by repeated ablative radiotherapy at the age of 9.5-13 years due to a toxic multinodular goiter. After 13 years ATD could be discontinued and the patient was euthyroid until 16 years of age, where L-thyroxine substitution had to be started. The exophthalmus diminished, and had disappeared at the age of 18 years, when CT scan of the orbit was performed. Conclusion: TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very aggressive treatment strategy is necessary. |
