Congenital adrenal hypVitamin D3 24-HydroxylaseEnzymeCytochromeClassic 21-hydroxylasBiosynthesisCYP21A2ACTHAldosteroneHormonesMetabolismCholesterolPrecursorsBiosynthetic pathwayLyaseCorticosteroneProgesteroneProteinCYP11B1GenesMutationsMICROSOMESMonooxygenaseAntibodiesDefectAutoantibodyIsoenzymesDiagnosisNonclassicBenzphetamineAndrogensDehydroepiandrosteroneProfilesMutationActivityHormone productionMalesDisordersHypertension
Congenital adrenal hyp10
- A mutation in genes encoding 11β-hydroxylase is associated with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. (wikipedia.org)
- 11β-hydroxylase is involved in the metabolism of 17α-hydroxyprogesterone to 21-deoxycortisol, in cases of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (wikipedia.org)
- Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). (columbia.edu)
- Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. (medlineplus.gov)
- CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
- 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
- Congenital adrenal hyperplasia (CAH) is a common genetic disorder due to defective 21-hydroxylation of steroid hormones. (elsevierpure.com)
- Knowledge of this pathway is vital to understanding the clinical presentation of 11-beta-hydroxylase deficiency and the other variants of congenital adrenal hyperplasia (CAH). (medscape.com)
- Context: Congenital adrenal hyperplasia (CAH) is caused by 21-hydroxylase deficiency in 95% of the cases. (endocrine-abstracts.org)
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21OHD) is the commonest inborn error in steroid biosynthesis. (endocrine-abstracts.org)
Vitamin D3 24-Hydroxylase1
- A cytochrome P450 enzyme family that includes VITAMIN D3 24-HYDROXYLASE. (bvsalud.org)
Enzyme10
- 11β-hydroxylase is a steroidogenic enzyme, i.e. the enzyme involved in the metabolism of steroids. (wikipedia.org)
- A mitochondrial cytochrome P450 enzyme that catalyzes the 11-beta-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. (childrensmercy.org)
- The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. (medlineplus.gov)
- CAH due to 11-beta-hydroxylase deficiency is caused by a shortage (deficiency) of the 11-beta-hydroxylase enzyme. (medlineplus.gov)
- The amount of functional 11-beta-hydroxylase enzyme that an individual produces typically determines the extent of abnormal sexual development. (medlineplus.gov)
- The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. (medlineplus.gov)
- 21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. (medlineplus.gov)
- The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. (medlineplus.gov)
- Cytochrome P450c17 is the single enzyme that mediates the 17α-hydroxylase and 17, 20 lyase activities during the biosynthesis of steroid hormones in the gonads and adrenal gland. (amrita.edu)
- The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to an accumulation of 17-hydroxyprogesterone (17-OHP) and subsequent elevation of androgens. (mssm.edu)
Cytochrome4
- The CYP11B1 gene encodes 11β-hydroxylase - a member of the cytochrome P450 superfamily of enzymes. (wikipedia.org)
- The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (wikipedia.org)
- The human P450XXIA2 gene encodes cytochrome P450c21 [steroid 21-monooxygenase (steroid 21-hydroxylase), EC 1.14.99.10], which mediates 21-hydroxylation. (elsevierpure.com)
- T cell responses to steroid cytochrome P450 21‑ hydroxylase in patients with autoimmune primary adrenal insufficiency. (prolekare.cz)
Classic 21-hydroxylas2
- Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. (medlineplus.gov)
- We report a female infant aged two months, from Nag Hammadi, Upper Egypt, whose presentation and laboratory abnormalities were consistent with CAH, the classic 21-hydroxylase deficiency (salt-wasting type). (uwi.edu)
Biosynthesis2
- Bovine adrenodoxin (Adx) and adrenodoxin reductase (AdR) are involved in steroid hormone biosynthesis in the adrenal gland mitochondria. (nature.com)
- It is derived from progesterone via 17α-hydroxylase and is a chemical intermediate in the biosynthesis of several other steroids, including cortisol. (cdc.gov)
CYP21A22
- Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. (medlineplus.gov)
- It is caused by mutations in the 21-hydroxylase gene (CYP21A2). (endocrine-abstracts.org)
ACTH6
- CYP11B1 (11β-hydroxylase) is expressed at high levels and is regulated by ACTH, while CYP11B2 (aldosterone synthase) is usually expressed at low levels and is regulated by angiotensin II. (wikipedia.org)
- In the zona fasciculata, the typical end product of the steroid biosynthetic pathway is cortisol, as shown in the image above, and cortisol regulates pituitary ACTH production through negative feedback inhibition. (medscape.com)
- Loss of 11-beta-hydroxylase activity in the adrenal gland blocks the synthesis of cortisol and results in an increase in ACTH production. (medscape.com)
- CAH due to 11-hydroxylase deficiency is due to genetic defects of CYP11B1 characterized by impaired conversion of 11-deoxycortisol to cortisol, reduced cortisol, impaired conversion of DOC to corticosterone, and increased 11-deoxycortisol, DOC, and ACTH secretion. (medscape.com)
- To investigate this, we cultured HFT tissue with and without ACTH for up to 5 days, and quantified adrenal steroid hormones and expression of adrenal steroidogenic enzymes. (bvsalud.org)
- In contrast to fetal adrenal tissues, the expression of ACTH receptor MC2R was either absent or expressed at extremely low levels in ex vivo HFT tissue and no clear response to ACTH in gene expression or steroid hormone production was observed. (bvsalud.org)
Aldosterone2
- Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis. (medscape.com)
- The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but many aspects of human adrenal gland development are not well understood. (bvsalud.org)
Hormones3
- In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. (medlineplus.gov)
- This data will allow for analysis of the selected steroid hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of diseases, such as Polycystic Ovary Syndrome (PCOS), androgen deficiency, certain cancers, and hormone imbalances. (cdc.gov)
- While DHEAS itself is hormonally inactive, it can be converted to DHEA, which in turn can serve as a precursor to more active steroid hormones, such as testosterone or estradiol. (cdc.gov)
Metabolism3
- The rate of electron leakage during metabolism depends on the functional groups of the steroid substrate. (wikipedia.org)
- Little is known about the effects of the vitamin D receptor (VDR) on hepatic activity of human cholesterol 7α-hydroxylase (CYP7A1) and cholesterol metabolism. (nih.gov)
- Congenital abnormality of steroid metabolism (eg, adrenogenital syndrome, 17? (unboundmedicine.com)
Cholesterol3
- Cholesterol 7-alpha-Hydroxylase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
- This graph shows the total number of publications written about "Cholesterol 7-alpha-Hydroxylase" by people in UAMS Profiles by year, and whether "Cholesterol 7-alpha-Hydroxylase" was a major or minor topic of these publications. (uams.edu)
- Below are the most recent publications written about "Cholesterol 7-alpha-Hydroxylase" by people in Profiles over the past ten years. (uams.edu)
Precursors2
- When 11-beta-hydroxylase is lacking, precursors that are used to form cortisol and corticosterone build up in the adrenal glands and are converted to androgens. (medlineplus.gov)
- A buildup in the precursors used to form corticosterone increases salt retention, leading to hypertension in individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency. (medlineplus.gov)
Biosynthetic pathway1
- The steroid biosynthetic pathway is shown in the image below. (medscape.com)
Lyase1
- Steroid 17 alpha hydroxylase/17,20 lyase (CYP17A1), associated with the endoplasmic reticulum membrane, catalyzes this reaction. (reactome.org)
Corticosterone2
- 11β-hydroxylase has strong catalytic activity during conversion of 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, by catalyzing the hydroxylation of carbon hydrogen bond at 11-beta position. (wikipedia.org)
- The adrenal fasciculata production of corticosterone, a weak glucocorticoid, and deoxycorticosterone (DOC), a potent mineralocorticoid, is minimal and relatively unimportant in healthy normal individuals, but it is important in patients with 11-beta-hydroxylase deficiency. (medscape.com)
Progesterone1
- Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone. (cdc.gov)
Protein2
- The product of this CYP11B1 gene is the 11β-hydroxylase protein. (wikipedia.org)
- This protein localizes to the mitochondrial inner membrane and is involved in the conversion of various steroids in the adrenal cortex. (wikipedia.org)
CYP11B14
- Humans have two isozymes with 11β-hydroxylase activity: CYP11B1 and CYP11B2. (wikipedia.org)
- The CYP11B1 isozyme has strong 11β-hydroxylase activity, but the activity of 18-hydroxylase is only one-tenth of CYP11B2. (wikipedia.org)
- The weak 18-hydroxylase activity of CYP11B1 explains why an adrenal with suppressed CYP11B2 expression continues to synthesize 18-hydroxycorticosterone. (wikipedia.org)
- Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. (medlineplus.gov)
Genes1
- And disadvantages of taking Stanozolol it just means you transcriptional regulation of the genes encoding P-450 steroid hydroxylases. (mdtmag.com)
Mutations2
- Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A , is the most common form of CAH, accounting for more than 90% of cases. (medscape.com)
- Introduction: Steroid 5-α reductase type 2 deficiency causes 46,XY disorder of sex development (DSD) and is an autosomal recessive disorder resulting from mutations in the SRD5A2 gene. (endocrine-abstracts.org)
MICROSOMES2
- Benzo(a)pyrene-hydroxylase and ethoxycoumarin-deethylase activities were also inhibited by Zn, Cd, and Pb in adrenal, liver and lung microsomes. (cdc.gov)
- Zn inhibited steroid 21-hydroxylase activity in adrenal microsomes. (cdc.gov)
Monooxygenase1
- Steroid 11β-hydroxylase, also known as steroid 11β-monooxygenase, is a steroid hydroxylase found in the zona glomerulosa and zona fasciculata of the adrenal cortex. (wikipedia.org)
Antibodies1
- The KRONUS® 21-OHAb Kit is for the qualitative determination of antibodies to 21-hydroxylase in human serum. (jspargo.com)
Defect1
- An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5-8% of cases. (medscape.com)
Autoantibody1
- Autoantibody epitope mapping of the 21‑ hydroxylase antigen in autoimmune Addison's disease. (prolekare.cz)
Isoenzymes1
- Humans have two 11-beta-hydroxylase isoenzymes that are 93% identical. (medscape.com)
Diagnosis2
- The measurement of steroid 21-OHAbs is useful as an aid in the diagnosis of autoimmune adrenal disease, whether expressed as autoimmune Addison's disease (isolated) or Addison's disease as part of the more complex autoimmune polyglandular syndrome (APS), type I or II, and may also aid in the detection of those at risk of developing autoimmune adrenal failure in the future. (jspargo.com)
- Hormonal testing is important in making the diagnosis of 21-hydroxylase deficiency, yet genetic testing is crucial to secure the diagnosis. (mssm.edu)
Nonclassic1
- Nonclassic 11-beta-hydroxylase deficiency is more subtle and presents later in life. (medscape.com)
Benzphetamine1
- Cd and Zn caused concentration dependent decreases in benzphetamine- demethylase and biphenyl-hydroxylase activities in liver, lung, and adrenals. (cdc.gov)
Androgens2
- The excess production of androgens leads to abnormalities of sexual development, particularly in females with CAH due to 11-beta-hydroxylase deficiency. (medlineplus.gov)
- The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency. (medlineplus.gov)
Dehydroepiandrosterone1
- It is a conjugated steroid converted by the sulfation of dehydroepiandrosterone (DHEA) at the 3β position via hydroxysteroid sulfotransferase. (cdc.gov)
Profiles2
- Below are the most recent publications written about "Steroid 11-beta-Hydroxylase" by people in Profiles. (childrensmercy.org)
- When the lipid profiles and glucose administered as a supplement steroid use by athletes vary markedly to those used in clinical studies. (mdtmag.com)
Mutation1
- The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases and can have diverse manifestations: from the salt wasting to the non-classical form due to a highly variable genetic mutation. (uwi.edu)
Activity1
- In addition to the 11β-hydroxylase activity, both isozymes have 18-hydroxylase activity. (wikipedia.org)
Hormone production1
- 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. (medlineplus.gov)
Males1
- Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. (medlineplus.gov)
Disorders1
- In Genetic Steroid Disorders (pp. 29-51). (mssm.edu)
Hypertension3
- In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure ( hypertension ). (medlineplus.gov)
- Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency. (medlineplus.gov)
- Hypertension occurs in approximately two thirds of patients with the severe (classic) form of 11-beta-hydroxylase deficiency. (medscape.com)