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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 ]
[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 ...
Crinecerfont, sold under the brand name Crenessity, is a medication used for the treatment of congenital adrenal hyperplasia. [1] It is a corticotropin-releasing factor type 1 receptor (CRF1R) antagonist developed to treat classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD). [1] It is taken by mouth. [1]
It is also being trialed in humans to study its efficacy in treatment of breast cancer in women, [9] and in treating precocious puberty and congenital adrenal hyperplasia in male and female children. [10] As of August 2011 this drug was not approved for general use outside the FDA-licensed functions in the U.S., other than within approved ...
Disadvantages of mitotane as a treatment include the side effects and the requirement for blood test monitoring. Issues can arise when too much of the adrenal cortex becomes eroded. Approximately 30% of dogs will experience a reaction in response to treatment with mitotane; prednisone may be used as an antidote. In the event of a reaction ...
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene CYP17A1, which produces the enzyme 17α-hydroxylase. [1] [2] It causes decreased synthesis of cortisol and sex hormones, with resulting increase in mineralocorticoid production.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
Congenital adrenal hyperplasia is an autosomal recessive disorder with multiple types, two of which lead to pseudohyperaldosteronism. [1] Deficiency of 11-beta-hydroxylase blocks the conversion of 11-deoxycorticosterone (DOC) to corticosterone leading to an excess of DOC which acts as a mineralocorticoid similar to aldosterone.
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