Congenital adrenal hyperplasia, resulting from 21-hydroxylase (CYP21A2) deficiencies, is divided into 3 distinct clinical forms. The most severe enzyme-impairing mutations result in the saltlosing form. Females with this form of the disease present at birth due to ambiguity in the external genitalia. The physiological effect of salt losing is due to which of the following hormone defects?

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The salt-losing form of congenital adrenal hyperplasia is due to a deficiency in cortisol production, leading to increased ACTH release from the pituitary. This results in inadequate aldosterone production, causing salt loss.  The biological role of ACTH is to stimulate the production of adrenal cortex steroids, principally the glucocorticoids cortisol and corticosterone. ACTH also stimulates the adrenal cortex to produce the mineralocorticoid, aldosterone as well as the androgen, and androstenedione. Negative feedback on ACTH secretion is exerted by cortisol at both the hypothalamic and anterior pituitary levels. Loss of cortisol production results in unregulated and excess secretion of ACTH leading to increased androgen production resulting in the masculinizing effect seen in 21- hydroxylase deficiency.

Congenital Adrenal Hyperplasia, Resulting from 21-Hydroxylase (CYP21A2) Deficiencies, Is Divided