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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 ]
The outcomes and prognosis for CAH (Congenital Adrenal Hyperplasia) can vary depending on several factors, such as the specific type of CAH, its severity, early detection, and proper management. With appropriate medical care and ongoing treatment, individuals with CAH can lead healthy lives.
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 ...
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.
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.
The most common cause of primary adrenal insufficiency (Addison's disease) overall is autoimmune adrenalitis. [2] The prevalence of Addison's disease ranges from 5 to 221 per million in different countries. [30] In children, congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency, with an incidence 1 in 14,200 ...
Late-onset congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a condition in which the adrenal glands produce too little cortisol and an excess of androgens. In women, this can lead ...
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones.