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
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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!

Cholesterol
Dihydro-
Progesterone D
Andro-
Testosterone
testosterone
stenedione
21-hydroxylase
Estradiol
Aldosterone
and cortisol
Transcribed Image Text:Cholesterol Dihydro- Progesterone D Andro- Testosterone testosterone stenedione 21-hydroxylase Estradiol Aldosterone and cortisol
Expert Solution
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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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