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The defects causing adrenal hyperplasia are congenital (i.e. present at birth). Steroidogenesis : The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme). [ 29 ]
[2] [3] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. [4] Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency, and different mutations related to enzyme impairment have ...
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. [1] [2] [3] [4]
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency; Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Congenital amegakaryocytic thrombocytopenia; Congenital disorder ...
Differential diagnosis of Adrenocorticotropic hormone deficiency includes Congenital adrenal hyperplasia, Addison's disease, and Secondary adrenal insufficiency. [ 1 ] Plasma ACTH levels when off glucocorticoid replacement therapy are the best parameter for differential diagnosis, as levels in primary adrenal insufficiency are generally above ...
Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 23 ] [ 24 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 25 ]
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency; Critical illness–related corticosteroid insufficiency; Cushing's disease; Cushing's syndrome; G.
Genetic variants in the CYP21A2 gene cause a disturbance in the development of the enzyme, leading to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Gene conversion events involving the functional gene and the pseudogene account for many cases of steroid 21-hydroxylase deficiency. [64] CAH is an autosomal recessive ...