Aldosterone is an important steroid hormone that regulates water and salt balanc

Question

Aldosterone is an important steroid hormone that regulates water and salt balance. People with congenital adrenal hyperplasia suffer from “salt wasting” if not treated with hormone replacement therapy. Explain why a mutation in the 21-hydroxylase gene results in a deficiency in aldosterone and cortisol production. Use the name of the substrate, the enzyme and the product in your answer! (SEE SYNTHETIC PATHWAY IMAGE BELOW)

Explanation / Answer

21 hydroxylase is synthesized by SER of adrenal cortex cells. It's substrate is 17a hydroxy progesterone and it's product is 11 deoxycortisol in the glucocorticoid synthesis pathway. Deficiency of this enzyme results in reduced cortisol synthesis and consequent adrenal hyperplasia and increased ACTH production. Synthesis of aldosterone is also affected. Therefore there is insufficient reabsorption of salt (Na+) from.the collecting ducts and salt wasting.

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