Long-term follow-Up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr)

L Lavard, A Sehested, B Brock Jacobsen, J Muller, H Perrild, U Feldt-Rasmussen, J Parma, G Vassart

Abstract

UNLABELLED: 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.

OriginalsprogEngelsk
TidsskriftHormone Research
Vol/bind51
Udgave nummer1
Sider (fra-til)43-6
Antal sider4
ISSN0301-0163
DOI
StatusUdgivet - 1999
Udgivet eksterntJa

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