Molecular pathology of hormonal receptors

Mutations of receptor genes are involved in various aspects of thyroid and gonadal pathology. Activating mutations of TSH and LH receptors are associa ted wit hyperthyroidism and premature puberty. These mutations are dominant and lead to the synthesis of a constitutive receptor, i.e a receptor activ e even in the absence of hormone. Inactivating mutations of TSH, gonadotrop in and GnRH receptors are recessive. They determine either a hypothyroidism or a hypogonadism. In the case of alterations of gonadotropin receptors th e hypogonadism is hypergonadotrophic. It is hypogonadotrophic in the case o f mutations of the GnRH receptor.