[Familial glucocorticoid deficiency due to the ACTH receptor gene mutations].

Abstract excerpt

Familial glucocorticoid deficiency(FGD) is a rare autosomal recessive disorder, characterized by resistance to ACTH leading to glucocorticoid deficiency, but not mineralocorticoid deficiency. Recently, mutations in the ACTH receptor gene were identified in several families with FGD. Thus far, twelve missense mutations, one nonsense mutation and three frameshift mutations causing FGD were described. Functional...

Topics

• Glucocorticoids
• Humans
• Mutation
• Mutation, Missense
• Receptors, Corticotropin