![]() The most common enzyme affected is 21-hydroxylase, an enzyme essential for the generation of cortisol and aldosterone. What causes congenital adrenal hyperplasia?ĬAH results from mutations in the genes that code for enzymes that make steroid hormones in the adrenal gland. The main glucocorticoid is the stress hormone cortisol, the main mineralocorticoid is aldosterone and the main androgen is testosterone. There are three classes of steroid hormones secreted by the adrenal cortex and they are: glucocorticoids, important for sugar metabolism, mineralocorticoids important for salt balance, and androgens which are male-type sex hormones. The adrenal gland consists of a central portion (the medulla) responsible for the release of adrenaline and the outside layer (the cortex) which is responsible for generating the steroid hormones. The body has two adrenal glands one sitting above each kidney. The body’s response to this is to try and drive the adrenal glands harder and they therefore enlarge in size (hyperplasia). Patients with CAH have adrenal insufficiency, a deficiency in the stress hormone cortisol. ![]() What is congenital adrenal hyperplasia (CAH)?Ĭongenital adrenal hyperplasia is an inherited, lifelong, endocrine (hormone) disorder caused by mutations in genes coding for enzymes in the adrenal gland that synthesise steroid hormones. ![]()
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