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In general, the treatment of adrenal insufficiency requires replacement of deficient hormones, as well as treatment of any underlying cause. [2] [3] All types of adrenal insufficiency will require glucocorticoid repletion. [2] [3] Many cases (typically, primary adrenal insufficiency) will also require mineralocorticoid repletion.
The goal is to normalize the production of 21-hydroxylase, the enzyme encoded by CYP21A2. Providing a working copy of this gene may improve adrenal hormone synthesis and subsequently normalize cortisol and aldosterone production. [253] Currently, gene replacement therapy for CAH is still at an early stage of research and development.
Addison's disease, also known as primary adrenal insufficiency, [4] is a rare long-term endocrine disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands (adrenal cortex), causing adrenal insufficiency.
Fludrocortisone has been used in the treatment of cerebral salt-wasting syndrome. [8] It is used primarily to replace the missing hormone aldosterone in various forms of adrenal insufficiency such as Addison's disease and the classic salt-wasting (21-hydroxylase deficiency) form of congenital adrenal hyperplasia.
Hydrocortisone is the name for the hormone cortisol when supplied as a medication. [14] It is a corticosteroid and works as an anti-inflammatory and by immune suppression. [1] Uses include conditions such as adrenocortical insufficiency, adrenogenital syndrome, high blood calcium, thyroiditis, rheumatoid arthritis, dermatitis, asthma, and COPD. [1]
That is, in the beginning, 17,20-lyase deficiency will block synthesis of sex steroid hormones, forcing the pathways to produce more cortisol. However, the initial excess of cortisol is rapidly corrected by negative feedback mechanism—high cortisol decreases secretion of adrenocorticotropic hormone (ACTH) from zona fasciculata of adrenal gland.
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