AAGAB
AAGAB: A Rare Genetic Condition Affecting Growth and Development
Description:
AAGAB is an acronym for "ACTH-independent adrenal hyperplasia due to germline GNAS1 mutation." It is a rare genetic condition characterized by excessive growth of the adrenal cortex, leading to the overproduction of certain hormones. These hormones, primarily cortisol and aldosterone, play crucial roles in regulating growth, blood pressure, and electrolyte balance in the body.
AAGAB is caused by mutations in the GNAS1 gene, which encodes a protein called the Gsα subunit. This protein is involved in the signaling pathway that activates the adrenal glands. Mutations in GNAS1 lead to abnormal activation of this pathway, resulting in the overproduction of cortisol and aldosterone.
Associated Diseases:
AAGAB is often associated with the following conditions:
- McCune-Albright Syndrome (MAS): A rare disorder characterized by a combination of endocrine disorders, including AAGAB, skeletal abnormalities, and skin pigmentation changes.
- Isolated ACTH-independent macronodular adrenal hyperplasia: A condition similar to AAGAB but without the other features of MAS.
- Growth hormone deficiency: Decreased production of growth hormone from the pituitary gland, leading to stunted growth.
- Cushing‘s syndrome: A condition caused by excessive cortisol production, resulting in a characteristic "moon face" and other symptoms.
- Bartter-like syndrome: A condition characterized by low potassium and high blood pressure, similar to Bartter syndrome but caused by AAGAB.
Did you Know ?
AAGAB is a rare condition, affecting an estimated 1 in 100,000 individuals worldwide. It typically presents in childhood or early adolescence.
