[Pathologic manifestations of hormonal receptor mutations].
Mutations of receptor genes are involved in various aspects of thyroid and gonadal pathology. Activating mutations of TSH and LH receptors are associated with hyperthyroidism and premature puberty. These mutations are dominant and lead to the synthesis of a constitutive receptor, i.e. a receptor active even in the absence of hormone. Inactivating mutations of TSH, gonadotropin and GnRH receptors are recessive. They determine either a hypothyroidism or a hypogonadism. In the case of alterations of gonadotropin receptors the hypogonadism is hypergonadotrophic. It is hypogonadotrophic in the case of mutations of the GnRH receptor.
Milgrom
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E
Laboratoire d'Hormonologie et de Biologie Moléculaire, Unité 135 de l'INSERM: Hormones, Gènes et Reproduction, Hôpital de Bicêtre, Le Kremlin-Bicêtre. u135@kb.inserm.fr
D006801:Humans; D006980:Hyperthyroidism / Q000209:etiology*; D007037:Hypothyroidism / Q000209:etiology*; D009154:Mutation; D011629:Puberty, Precocious / Q000209:etiology*; D011974:Receptors, LH / Q000235:genetics*; D011989:Receptors, Thyrotropin / Q000235:genetics*
D011974:Receptors, LH; D011989:Receptors, Thyrotropin