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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 1 ] [ 2 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 3 ]
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. [ 1 ] It is classified as an inherited metabolic disorder.
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.
Two slices of an adrenal gland with a cortical adenoma, from a person with Conn's syndrome. The condition is due to: [14] Bilateral idiopathic (micronodular) adrenal hyperplasia: 66% of cases [1] Adrenal adenoma (Conn's disease): 33% of cases [1] Primary (unilateral) adrenal hyperplasia: 2% of cases
Primary aldosteronism (hyporeninemic hyperaldosteronism) is most often caused by bilateral idiopathic (micronodular) adrenal hyperplasia (almost 70% of cases) [4] and adrenal adenoma (Conn's syndrome) (about 30% of cases). [4] These cause hyperplasia of aldosterone-producing cells of the adrenal cortex resulting in primary hyperaldosteronism.
Adrenal insufficiency can be caused by dysfunction of the adrenal gland itself, whether by destruction (e.g. Addison's disease), [5] failure of development (e.g. adrenal dysgenesis), or enzyme deficiency (e.g. congenital adrenal hyperplasia). [2] [3] Adrenal insufficiency can also occur when the pituitary gland or the hypothalamus do not ...
Congenital adrenal hyperplasia – Inherited disorder of gland (adrenal). [ 19 ] Endometrial hyperplasia – Hyperproliferation of the endometrium, usually in response to unopposed estrogen stimulation in the setting of polycystic ovary syndrome or exogenous administration of hormones.
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders that cause a lack of an enzyme necessary for the production of cortisol and/or aldosterone, steroid hormones produced by the adrenal cortex. Most cases of CAH are due to 21-hydroxylase deficiencies.