ACTH-independent macronodular adrenal hyperplasia 2

ACTH-independent macronodular adrenal hyperplasia 2 is a rare form of adrenal gland disorder. In this condition, the adrenal glands develop large nodules that can lead to an overproduction of cortisol, which is a hormone important for many body functions. This overproduction of cortisol can result in a collection of signs and symptoms known as Cushing syndrome. The cause of this condition is linked to a mutation in the ARMC5 gene. This type of adrenal hyperplasia is classified under ACTH-independent causes of Cushing syndrome, meaning that the adrenal gland activity is not driven by the pituitary hormone ACTH. The condition is sometimes described in association with an autosomal dominant pattern and somatic mutations, which are details observed in some cases.

Information about symptoms is currently limited for this condition.

The condition is caused by a mutation in the ARMC5 gene. This genetic change leads to macronodular adrenal hyperplasia that results in overproduction of cortisol, which contributes to the development of Cushing syndrome. This type of mutation is key to understanding the disease mechanism in people with this condition.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.