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Registration of familial thyrotoxicosis not due to autoimmune processes
From Jacques Leclère, Nancy, France
My purpose is to open of a documentation on familial thyrotoxicosis not due to autoimmune processes.
I described in 1982 the first family where the thyrotoxicosis was not related to thyroid
autoimmunity. In 1994, with the collaboration of the group of G. Vassart and J E Dumont,
we demonstrated the genetic origin of this new disease: a point mutation of the THS-receptor
gene which leads to a gain of function even in the absence of TSH. The consequence of this
mutation is an hereditary thyrotoxicosis with diffuse goiter. As this pathophysiology is
similar to that of toxic nodule, I proposed in 1982 to call this entity "toxic hyperplasia"
in order to differentiate it from Graves´ disease. Now about 8 families have been described
with different sites of mutations. It would be interesting to collect other cases because the
clinical presentation may be different according to the site and the nature of mutation.
I would appreciate to receive all relevant information on this topic.
Jacques Leclère
Please give a note to:
Pr J. Leclère
Service d'Endocrinologie CHU de Nancy
Hopital de Brabois F-54511 Vandoeuvre-Nancy. France
Tel: (33) 83 15 34 40
Email: [email protected]
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