What is the function of 11-beta-hydroxylase?

Normal Function The 11-beta-hydroxylase enzyme is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells. The 11-beta-hydroxylase enzyme helps produce hormones called cortisol and corticosterone.

What causes 11-beta-hydroxylase?

An autosomal recessive disease, 11-beta-hydroxylase deficiency results from mutations in the CYP11B1 gene.

What is 11-beta-hydroxylase deficiency?

When 11-beta-hydroxylase is lacking, precursors that are used to form cortisol and corticosterone build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development, particularly in females with CAH due to 11-beta-hydroxylase deficiency.

Why does 11b hydroxylase deficiency cause hypertension?

Deficiencies of steroid 11β-hydroxylase or 17α-hydroxylase are types of congenital adrenal hyperplasia, the autosomal recessive inability to synthesize cortisol. These two defects often cause hypertension because of overproduction of cortisol precursors that are, or are metabolized to, mineralocorticoid agonists.

Why does 11b hydroxylase deficiency cause hypokalemia?

Children with 11beta-hydroxylase deficiency have excess mineralocorticoid activity and increased adrenal androgens, which cause hypertension, hypokalemia, and virilization.

What does 17 alpha hydroxylase do?

17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction.

What enzyme causes congenital adrenal hyperplasia?

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones.

Which enzyme is deficiency in Congenital Adrenal Hyperplasia?

How is 11 beta hydroxylase deficiency diagnosed?

Congenital Adrenal Hyperplasia Caused by 11Beta-Hydroxylase Deficiency. and increased production of adrenal androgens, leading to virilization. Diagnosis is by measurement of cortisol, its precursors, and adrenal androgens and sometimes by measuring 11-deoxycortisol after adrenocorticotropic hormone administration.

What is the most common cause of congenital adrenal hyperplasia?

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones. There are other much rarer enzyme deficiencies that also cause CAH .