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The enzyme P450c21, commonly referred to as 21-hydroxylase (21-OH), is embedded in the smooth endoplasmic reticulum of the cells of the adrenal cortex. It catalyzes hydroxylation of 17α-hydroxyprogesterone (17OHP) to 11-deoxycortisol in the glucocorticoid pathway, which starts from pregnenolone and finishes with cortisol.
The condition of 21-hydroxylase deficiency is screened by measuring serum levels of 17α-hydroxyprogesterone (17-OHP) in the morning and between day 3 and 5 of the menstrual cycle (for females) to reduce the possibility of false positive results. [11] 17-OHP is used as a marker of the 21-hydroxylase enzyme activity since the 1980s. [51]
Steroid 21-hydroxylase is a protein that in humans is encoded by the CYP21A2 gene. The protein is an enzyme that hydroxylates steroids at the C21 position on the molecule. [ 10 ] [ 11 ] Naming conventions for enzymes are based on the substrate acted upon and the chemical process performed.
Autoimmune destruction of the adrenal cortex is caused by an immune reaction against the enzyme 21-hydroxylase (a phenomenon first described in 1992). [20] This may be isolated or in the context of autoimmune polyendocrine syndrome (APS type 1 or 2), in which other hormone-producing organs, such as the thyroid and pancreas, may also be affected ...
21-hydroxylase antibodies Confirmed 0.93-1.4 per 10,000 [72] Autoimmune oophoritis: Ovaries: Anti-ovarian antibodies Probable Rare [73] Autoimmune orchitis: Testes: Anti-sperm antibodies Probable Rare [74] Autoimmune pancreatitis: Pancreas: IgG4, Anti-CA2 antibodies Confirmed 0.82-1.3 per 100,000 [75] Autoimmune polyendocrine syndrome type 1 (APS1)
[6] [21] [22] Autoimmune destruction of the adrenal cortex is caused by an immune reaction against the enzyme 21-hydroxylase (a phenomenon first described in 1992). [23] This may be isolated or in the context of autoimmune polyendocrine syndrome (APS type 1 or 2), in which other hormone-producing organs, such as the thyroid and pancreas , may ...
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.
Health Services Laboratories (HSL) is an independent provider of pathology and diagnostic services to the NHS. Formed in 2015, it is a partnership between The Doctors Laboratory, University College London Hospitals NHS Foundation Trust and the Royal Free London NHS Foundation Trust.