[Activating mutations of the TSH receptor: a synthesis highlighting certain pediatric aspects]

Mutations of the TSH receptor gene cause constitutive activation of the TSH receptor responsible for cases of familial hereditary hyperthyroidism (germline mutations), cases of sporadic congenital hyperthyroidism (de novo mutations), and thyroid hyperfunctioning autonomous adenomas (somatic mutations). The discovery of these mutations not only clarifies the pathogenesis of some forms of thyroid autonomy, such as cases of persistent neonatal hyperthyroidism without maternal thyroid autoimmunity, but also contributes to a better understanding of the structure-function relationships of the TSH receptor.