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It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births. [2] The most common forms of this condition impair both the 17α-hydroxylase activity and the 17,20-lyase activity of CYP17A1.
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 ]
In individuals with congenital adrenal hyperplasia due to enzyme deficiencies like 21-hydroxylase or cytochrome P450 oxidoreductase deficiency, these pathways can activate at any age with increased levels of precursors like progesterone or 17α-hydroxyprogesterone.
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.
[22] [23] [24] Furthermore, mutations in the CYP17A1 gene are associated with rare forms of congenital adrenal hyperplasia, in particular 17α-hydroxylase deficiency/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Overall, CYP17A1 is an important target for inhibition in the treatment of prostate cancer because it produces androgen ...
[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 ...
Measurements of 17α-hydroxypregnenolone are useful in the diagnosis of certain forms of congenital adrenal hyperplasia. [2] In patients with congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency 17α-hydroxypregnenolone is increased, while in patients with congenital adrenal hyperplasia due to 17α-hydroxylase ...
17α-Hydroxyprogesterone (17α-OHP), also known as 17-OH progesterone (17-OHP), [1] or hydroxyprogesterone (OHP), is an endogenous progestogen steroid hormone related to progesterone. [ 2 ] [ 3 ] [ 4 ] It is also a chemical intermediate in the biosynthesis of many other endogenous steroids, including androgens , estrogens , glucocorticoids ...
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