[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency].

Article

[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency].

Annales d'endocrinologie - 1 Jan 1996

Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez J, Begeot M

Abstract excerpt

Familial isolated glucocorticoid deficiency syndrome is characterized by low cortisol plasma levels despite high ACTH levels without any stimulation of steroid production after ACTH administration. However, the mineralocorticoid function is well-preserved in this syndrome which indicates a specif...

Topics

Gene Expression
Glucocorticoids
Humans
In Vitro Techniques
Infant
Infant, Newborn
Mutation
Receptors, Corticotropin
Syndrome

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