Article
Mutations of the TSH receptor as cause of congenital hyperthyroidism.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1996
Schwab K O, Söhlemann P, Gerlich M, Broecker M, Petrykowski W, Holzapfel H P, Paschke R, Grüters A, Derwahl M
Abstract excerpt
4 patients of two families with congenital persistent hyperthyroidism without detectable autoantibodies are reported. The members of the first family affected by hyperthyroidism, i.e. the mother and her two children, showed a germline mutation, a transition of GCC to GTC in the genomic DNA of the TSH receptor, leading to an exchange of alanine by valine at the position 623. The mother was thyroidectomized at two...
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