The most common form of CAH is caused by a deficiency in the enzyme 21-hydroxylase, which is crucial for the production of cortisol and aldosterone. This condition can result in serious health ...

It is caused by autosomal recessive gene mutations, encoding enzymes in the adrenal steroidogenesis pathway. The majority, CYP21A1 mutations, result in 21-hydroxylase deficiency, with: inability to ...

Congenital Adrenal Hyperplasia (CAH) owing to impairment of the 21-hydroxylase enzyme activity is characterized by defective cortisol synthesis with secondary rise in ACTH and shunting of steroid ...

This type of CAH is sometimes referred to as 21-hydroxylase deficiency. In CAH due to 21-hydroxylase deficiency, the adrenal glands cannot make enough cortisol or aldosterone. In addition, the glands ...

In congenital adrenal hyperplasia (CAH), a mutation (genetic change) causes the adrenal glands to make too little cortisol. In the most common type of CAH, called 21-hydroxylase deficiency, the ...

1 In CAH, the body is missing an enzyme that stimulates the adrenal gland to release cortisol. More than 90% of cases of CAH are caused by 21-hydroxylase deficiency due to mutations in CYP21A2 gene.2 ...

Expert Rev Endocrinol Metab. 2013;8(2):183-193. Mitotane reduces cortisol synthesis through the inhibition of 11B-hydroxylase, 18-hydroxylase, 3-α hydroxylase, hydroxysteroid dehydrogenase and ...

The enzyme CYP17A1 includes 17α-hydroxylase and 17,20-lyase which are required for the synthesis of cortisol and sex steroids, respectively. The consequent cortisol deficiency results in a ...