[MIM 609 152]

(autonomous hyperthyroidism with low TSH level)

About 30 families described.  Autosomal dominant transmission of a mutation in the TSHR gene on 14q31.1. This mutation causes an activating change in TSH receptor: these patients therefore have a stand-alone hyperthyroidism with a low TSH. The onset is variable: from birth to adulthood.

The clinical picture may look like an serious illness (signs of hyperthyroidism and goiter) but without exophthalmos or presence of autoantibodies.

Other mutations of the same gene produce a resistance to TSH or an underactive thyroid.

Treatment: antithyroid drugs or total thyroidectomy.

Anesthetic implications:

check thyroid function.

Reference:

-        Kopp P, van Sande J, Parma J, Diaz, L et al..
Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
New Eng. J. Med. 1995; 332: 150-4.

Updated: August 2016