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


CONCLUSIONS
TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very aggressive treatment strategy is necessary.
Lavard
L
L
Department of Pediatrics, Amager Hospital, Copenhagen, Denmark.
Sehested
A
A
Brock Jacobsen
B
B
Muller
J
J
Perrild
H
H
Feldt-Rasmussen
U
U
Parma
J
J
Vassart
G
G
D019943:Amino Acid Substitution; D005094:Exophthalmos / Q000628:therapy; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006044:Goiter, Nodular / Q000188:drug therapy / Q000209:etiology / Q000532:radiotherapy; D006128:Growth; D006801:Humans; D007223:Infant; D008297:Male; D008715:Methionine; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013912:Threonine; D013965:Thyroidectomy; D013971:Thyrotoxicosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D013974:Thyroxine / Q000627:therapeutic use; D013997:Time Factors
D011989:Receptors, Thyrotropin; D013912:Threonine; D008715:Methionine; D013974:Thyroxine