Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.

Abstract excerpt

Familial glucocorticoid deficiency is an autosomal recessive syndrome of adrenal unresponsiveness to ACTH characterized by glucocorticoid deficiency, high plasma ACTH levels, and a normal renin-aldosterone axis. Defects of the ACTH receptor have been suggested as a possible cause, and we have previously reported a number of novel mutations of the ACTH receptor gene in some, but not all, cases, suggesting that...

Topics

• Adrenocorticotropic Hormone
• Base Sequence
• Child
• Child, Preschool
• Corticotropin-Releasing Hormone
• Female
• Frameshift Mutation
• Genes
• Glucocorticoids
• Heterozygote