The shunting of cholesterol toward the 17-alpha-hydroxylase pathway (androgen hormone production pathway) can result in virilization and ambiguous genitalia in females.

In aldosterone synthase deficiency, many of the functional losses are mitigated by the continued production of corticosterone, which acts similarly to aldosterone. Depending on the severity of the enzyme deficiency, this can result in hyponatremia, hyperkalemia (due to the inability to exchange sodium for potassium in the nephron), and hypovolemia (low sodium causes a decrease in extracellular fluid). The inability for aldosterone production to proceed leads to a buildup of intermediary products and cholesterol to be funneled down the glucocorticoid and androgen hormone production pathways instead. The production of aldosterone occurs in an interconnected pathway that produces mineralocorticoids, glucocorticoids, and androgens. A deficiency of any of these enzymes will halt aldosterone production. The three main enzymes that affect aldosterone are 21-hydroxylase, 11-beta-hydroxylase, and aldosterone synthase. Ĭongenital issues of concern related to aldosterone synthesis include autosomal recessive deficiencies in the enzymes responsible for adrenal hormone production. Congenital adrenal hyperplasia (CAH) can take many forms, depending on which enzyme is deficient. ĭuring fetal development, aldosterone plays a role in maternal volume expansion necessary to accommodate fetal perfusion and may also increase the expression of placental growth factors. ADH is often released simultaneously with aldosterone in order to support water reabsorption to the ECF by mobilizing aquaporin channels to the apical (lumen-facing) membrane of principal cells in the collecting tubule. Overall, aldosterone is a key player in the multi-factorial regulation of salt, potassium, blood pressure, and acid-base balance. This, however, is not to be confused with the effect of anti-diuretic hormone (ADH), also referred to as vasopressin. Aldosterone affects blood pressure by regulating the sodium gradient in the nephron to either increase or decrease the water reabsorped to contribute to the volume of the extracellular fluid (ECF). To execute these tasks, it influences epithelial sodium channels, sodium-potassium exchange pumps, hydrogen ion ATPases, and bicarbonate-chloride antiporters. Aldosterone's primary function is to act on the late distal tubule and collecting duct of nephrons in the kidney, favoring sodium and water reabsorption and potassium excretion while also contributing to acid-base balance. Aldosterone is a mineralocorticoid hormone produced in the zona glomerulosa of the adrenal cortex that influences water and salt regulation in the body.

Where is the adrenal cortex located