What is the CAH gene?
Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change ( mutation ) in several different genes : 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene. 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene.
What does a hydroxylase do?
Hydroxylases are enzymes which add an hydroxyl group to organic compounds. This addition is the first step of aerobic oxidative degradation.
What is 21-hydroxylase antibody test?
The 21-Hydroxylase Antibody test is used to investigate adrenal gland insufficiency and to assess a person’s risk of developing possible auto-immune adrenal gland insufficiency. The adrenal glands (one gland on each kidney) are responsible for secreting cortisol, aldosterone, and other steroid hormones.
What is the function of 21-hydroxylase?
21-hydroxylase plays a role in producing hormones called cortisol and aldosterone. Cortisol helps maintain blood sugar levels, protects the body from stress, and suppresses inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys.
Why does 11β-hydroxylase deficiency cause hypokalemia?
11β-hydroxylase deficiency leads to cortisol, corticosterone, and aldosterone production blocks. Activation of ACTH by feedback leads to stimulation of excess androgens. Excess DOC leads to signs of mineralocorticoid excess in the form of hypertension and hypokalemia.
Is hydroxylase a protein?
Protein hydroxylation is a post-translational modification catalyzed by 2-oxoglutarate-dependent dioxygenases. The hydroxylation modification can take place on various amino acids, including but not limited to proline, lysine, asparagine, aspartate and histidine.
What is hydroxylase antibody?
21-hydroxylase antibodies are markers of autoimmune Addison disease, which may manifest alone or as part of type I or type II polyglandular autoimmune syndrome. These antibodies may be present even before the endocrine function is reduced. Autoimmune adrenal disease is divided into stages.