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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.
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.
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.
Chronic primary adrenal insufficiency is typically characterized by an extended period of malaise, fatigue, anorexia, weight loss, joint and back pain, and skin darkening. Mineralocorticoid and glucocorticoid hormone deficiency must be physiologically replaced in order to treat primary adrenal insufficiency. [18]
The adrenal glands produce important hormones that have specific roles in the homeostasis of the body, which are regulated by other glands. These hormones include aldosterone, a mineralocorticoid that regulates the amount of salt in tissue and body fluids, cortisol, a glucocorticoid that regulates metabolism and usage of macronutrients in the body, and sex hormones, such as androgens and ...
In larger case series, the mortality was 1.6% overall. In the group of patients who were unwell enough to require surgery, the mortality was 1.9%, with no deaths in those who could be treated conservatively. [8] After an episode of pituitary apoplexy, 80% of people develop hypopituitarism and require some form of hormone replacement therapy.
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