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11 Beta-Hydroxylase Deficiency

(11) Double-wand Beta-fish with Hydra-lace Broken
Picmonic
11 beta-hydroxylase deficiency is the second most common variant of congenital adrenal hyperplasia characterized by a defect in the enzyme 11 beta-hydroxylase in the steroid biosynthesis pathway. This enzyme is necessary for the conversion of 11 deoxycorticosterone (11 DOC) to corticosterone in the mineralocorticoid synthesis pathway and 11 deoxycortisol to cortisol in the glucocorticoid synthesis pathway. Therefore, deficiency of this enzyme leads to decreased cortisol and aldosterone synthesis. Low levels of cortisol causes increased ACTH stimulation of the steroid biosynthesis pathway prior to 11 beta hydroxylase and leads to increase androgen synthesis as accumulated cortisol precursors are shunted into the androgen synthesis pathway. This also results in the buildup of 11 deoxycorticosterone. These individuals have clinical features of androgen excess including masculization and premature sexual maturation in boys and virilization in females. Although there is loss of aldosterone, 11 deoxyocorticosterone has mineralocorticoid activity and excess accumulation can lead to hypertension. 
6 KEY FACTS
PATHOPHYSIOLOGY
Decreased Cortisol
Down-arrow Court-of-Sol

11 beta-hydroxylase is necessary for the conversion of 11 deoxycorticosterone (11 DOC) to corticosterone in the mineralocorticoid synthesis pathway and 11 deoxycortisol to cortisol in the glucocorticoid synthesis pathway. Therefore, deficiency of this enzyme leads to decreased cortisol and aldosterone synthesis.

Decreased Aldosterone
Down-arrow on Aldo-stereo

11 beta-hydroxylase is necessary for the conversion of 11 deoxycorticosterone (11 DOC) to corticosterone in the mineralocorticoid synthesis pathway, and 11 deoxycortisol to cortisol in the glucocorticoid synthesis pathway. Therefore, deficiency of this enzyme leads to decreased cortisol and aldosterone synthesis.

Increased Sex Hormones
Up-arrow Harmonica with sex-symbols

Low levels of cortisol causes increased ACTH stimulation of the steroid biosynthesis pathway prior to 11 beta-hydroxylase and leads to increased androgen synthesis as accumulated cortisol precursors are shunted into the androgen synthesis pathway.

Increased 11 Deoxycorticosterone (11 DOC)
Up-arrow Doctor with (11) label

Although there is loss of aldosterone, 11 deoxycorticosterone has mineralocorticoid activity and excess accumulation can lead to hypertension.

SIGNS AND SYMPTOMS
Hypertension
Hiker-BP

Although there is loss of aldosterone, 11 deoxycorticosterone has mineralocorticoid activity and excess accumulation can lead to hypertension.

Masculinization
Mask with large beard

These individuals have clinical features of androgen excess including masculinization and premature sexual maturation in boys and virilization in females.

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