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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.
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 ...
[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 ...
Congenital adrenal hyperplasia ... Excessive levels of androgens of adrenal origin [15] [16] [17] ... 11-Deoxycortisol is a direct product of 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.
This conversion is mediated by the enzyme 17,20 lyase. As such 17α-hydroxypregenolone represents an intermediary in the Δ 5 pathway that leads from pregnenolone to DHEA. 17α-Hydroxypregneolone is also converted to 17α-hydroxyprogesterone , a prohormone for glucocorticosteroids and androstenedione through the activity of 3α-hydroxysteroid ...