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
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
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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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!

Transcribed Image Text:Cholesterol
Dihydro-
Progesterone D
Andro-
Testosterone
testosterone
stenedione
21-hydroxylase
Estradiol
Aldosterone
and cortisol
Expert Solution
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Step 1
21 hydroxylase deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and hyperkalemia.
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