3-Beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a rare form of congenital adrenal hyperplasia that results in decreased production of all three groups of adrenal steroids: mineralocorticoids, glucocorticoids, and sex steroids. (medscape.com)
Although first described in male infants with ambiguous genitalia and severe salt wasting, 3-beta-hydroxysteroid dehydrogenase deficiency also occurs in 46,XX female infants (who may have mild clitoromegaly), as well as in older patients who present with a milder or so-called late-onset variant. (medscape.com)
A variety of mutations in the HSD3B2 gene affect the activity of this enzyme, resulting in the extremely variable, phenotypic presentations of 3-beta-hydroxysteroid dehydrogenase deficiency. (medscape.com)
It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. (richardvigilantebooks.com)
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. (richardvigilantebooks.com)
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzym. (medscape.com)
Subramaniam P, Clayton PT, Portmann BC, Mieli-Vergani G, Hadzic N. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. (medscape.com)
Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. (medscape.com)
Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia. (medscape.com)
3alpha-Hydroxysteroid dehydrogenase type III deficiency: a novel mechanism for hirsutism. (medscape.com)
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency. (medscape.com)
Nordenström A, Forest MG, Wedell A. A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis. (medscape.com)
Jeandron DD, Sahakitrungruang T. A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3ß-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency. (medscape.com)
Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency. (medscape.com)
The need for replacement therapy varies in late-onset (nonclassic) 3-beta-hydroxysteroid dehydrogenase deficiency and depends on the severity of the defect. (naqlafshk.com)
A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms including glucocorticoid and mineralocorticoid deficiencies in both sexes. (globalgenes.org)
The molecular basis of cortisone reductase deficiency, the putative "11beta-HSD1 knockout state" in humans, has been defined and is caused by intronic mutations in HSD11B1 that decrease gene transcription together with mutations in hexose-6-phosphate dehydrogenase, an endoluminal enzyme that provides reduced nicotinamide-adenine dinucleotide phosphate as cofactor to 11beta-HSD1 to permit reductase activity. (ox.ac.uk)
Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. (eurospe.org)
Among the remaining half, 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) deficiency plays an important role. (pucv.cl)
Enzyme11
3β-Hydroxysteroid dehydrogenase/Δ5-4 isomerase (3β-HSD) (EC 1.1.1.145) is an enzyme that catalyzes the biosynthesis of the steroid progesterone from pregnenolone, 17α-hydroxyprogesterone from 17α-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone (DHEA) in the adrenal gland. (wikipedia.org)
This condition is due to defects in type II 3-beta-hydroxysteroid dehydrogenase, an enzyme that occurs almost exclusively in the gonads and adrenal glands. (medscape.com)
The 17β-HSD (17β-hydroxysteroid dehydrogenase) from the filamentous fungus Cochliobolus lunatus (17β-HSDcl) is a NADP(H)-dependent enzyme that preferentially catalyses the interconversion of inactive 17-oxo-steroids and their active 17β-hydroxy counterparts. (rcsb.org)
In order to test the proposal that the aldosterone specificity of mineralocorticoid receptors in the collecting duct depends on inactivation of glucocorticoids by the enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD), we have assessed the effect of pharmacological inhibition of 11β-HSD on collecting duct Na + reabsorption in vivo . (portlandpress.com)
Licorice influences cortisol production by inhibiting the enzyme 11-beta-hydroxysteroid dehydrogenase. (richardvigilantebooks.com)
The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. (richardvigilantebooks.com)
Hydroxysteroid (17β) dehydrogenases (HSD17Bs) form an enzyme family characterized by their ability to catalyze reactions in steroid and lipid metabolism. (richardvigilantebooks.com)
11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is a key enzyme that transform cortisone to cortisol, which activates the endogenous glucocorticoid function. (ijbs.com)
17b-hydroxysteroid dehydrogenase (HSD) is a steroidogenic enzyme essential for invertebrate spermatogenesis. (molcells.org)
To address the second, we investigated RNAs bound by the metabolic enzyme hydroxysteroid dehydrogenase 17-β 10 (HSD17B10). (nature.com)
HSD17b102
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (ru.nl)
Analyses of the mitochondrial hydroxysteroid dehydrogenase (HSD17B10) uncover the RNA-binding specificity of an enigmRBP. (nature.com)
3beta-hydroxysteroi2
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. (medscape.com)
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (medscape.com)
17beta-hydroxysteroi1
17beta-hydroxysteroid dehydrogenase Type 1, and not Type 12, is a target for endocrine therapy of hormone-dependent breast cancer. (ox.ac.uk)
11beta-Hydroxysteroi8
Anti-inflammatory effect of a selective 11beta-hydroxysteroid dehydrogenase type 1 inhibitor via the stimulation of heme oxygenase-1 in LPS-activated mice and J774.1 murine macrophages. (ac.ir)
5. Itoi S, Terao M, Murota H, Katayama I. 11beta-Hydroxysteroid dehydrogenase 1 contributes to the pro-inflammatory response of keratinocytes. (ac.ir)
Anti-inflammatory effects of levalbuterol-induced 11beta-hydroxysteroid dehydrogenase type 1 activity in airway epithelial cells. (ac.ir)
Carbenoxolone prevents chemical eye ischemia-reperfusion-induced cell death via 11beta-hydroxysteroid dehydrogenase type 1 inhibition. (ac.ir)
11. Chapman KE, Coutinho AE, Zhang Z, Kipari T, Savill JS, Seckl JR. Changing glucocorticoid action: 11beta-hydroxysteroid dehydrogenase type 1 in acute and chronic inflammation. (ac.ir)
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. (ox.ac.uk)
11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) interconverts inactive cortisone and active cortisol. (ox.ac.uk)
Agarwal, AK 2001, ' Transcriptional influence of two poly purine-pyrimidine tracts located in the HSD11B2 (11beta-hydroxysteroid dehydrogenase type 2) gene ', Endocrine Research , vol. 27, no. 1-2, pp. 1-9. (elsevierpure.com)
Reductase2
17β-HSDcl belongs to the SDR (short-chain dehydrogenase/reductase) superfamily. (rcsb.org)
11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), encoded by Hsd11b1 , is a reductase that can convert inactive cortisone into metabolically active cortisol, but the role of 11β-HSD1 in sepsis-induced myocardial dysfunction remains poorly understood. (jbr-pub.org.cn)
Glucocorticoid2
7. Chapman K, Holmes M, Seckl J. 11beta-hydroxysteroid dehydrogenases: Intracellular gate-keepers of tissue glucocorticoid action. (ac.ir)
Background: 11β-Hydroxysteroid dehydrogenase one is responsible for activating inert glucocorticoid cortisone into biologically active cortisol in humans and may be a novel target for the treatment of nonalcoholic fatty liver disease. (figshare.com)
Cortisol5
11β-Hydroxysteroid dehydrogenase (HSD-11β or 11β-HSD) enzymes catalyze the conversion of inert 11 keto-products (cortisone) to active cortisol, or vice versa, thus regulating the access of glucocorticoids to the steroid receptors. (richardvigilantebooks.com)
Cortisol, 11 beta-hydroxysteroid dehydrogenase type 1 and central obesity. (ox.ac.uk)
However, the role of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which catalyzes the conversion of inactive cortisone into active cortisol, in inflammation remains unclear. (ac.ir)
To investigate whether impaired placental function may be a determinant, we measured placental 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) activity, protein and mRNA, placental CRH mRNA, fetal cortisol, and fetal estriol concentrations at delivery. (edu.au)
In mammalian tissues, two isozymes of 11β-hydroxysteroid dehydrogenase (11β-HSD) catalyze the interconversion of hormonally active cortisol (F) and inactive cortisone (E). 11β-HSD2 is a high affinity dehydrogenase expressed in adult kidney that inactivates F to E protecting the mineralocorticoid receptor (MR) (which has equal affinity for F and aldosterone in vitro) from cortisol excess. (endocrine-abstracts.org)
Isomerase1
The enzymatic defects causing female virilization involve 3β-hydroxysteroid dehydrogenase Δ5-Δ4 isomerase (3β-HSD), P 450 C21 hydroxylase (21-OH), and P 450 C11 hydroxylase (11-OH). (health.am)
Type1
Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients. (bvsalud.org)
Steroid dehydrogenase2
Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. (nih.gov)
CHILD syndrome is inherited in an X-linked dominant fashion and involves a mutation in the NSDHL (NAD[P]H steroid dehydrogenase-like protein) gene. (medscape.com)
NADP1
Hydroxysteroid dehydrogenases (HSDs) or oxidoreductases catalyze the interconversion of alcohol and carbonyl functions in a position- and stereospecific manner on the steroid nucleus and side chain, using oxidized (+) or reduced (H) nicotinamide adenine dinucleotide, NAD(H), or NADP(H) as cofactors. (richardvigilantebooks.com)
HSD11B21
There are two such repeat elements in the HSD11B2 (11β-hydroxysteroid dehydrogenase) gene. (elsevierpure.com)
Late-onset1
Older patients with mild defects in 3-beta-hydroxysteroid dehydrogenase activity (late-onset or nonclassic variant) may present with premature pubic hair development, hirsutism, irregular menstrual cycles or primary amenorrhea. (medscape.com)
Expression2
Hydroxysteroid 11-beta dehydrogenase (HSD11B) isoenzymes regulate which ligand will bind to MR. In this study we aimed to evaluate the expression of the MR and the HSD11B isozymes in peripheral polymorphonuclear cells (PMNs) in critical illness for a 13-day period. (bvsalud.org)
d ) Validation of the yeast mRNA interactome using western blotting of input samples and eluate after interactome capture with specific antibodies (ADH1, alcohol dehydrogenase 1, PUB1) or against TAP-tagged proteins (PGK1, phosphoglycerate kinase 1, TDH1, triose phosphate dehydrogenase, TRX2, thioredoxine 2, SHE2, Swi5p-dependent HO Expression 2). (nature.com)
Inhibitor1
Results: WZS08 was the most potent inhibitor of rat, mouse, and human 11β-hydroxysteroid dehydrogenase 1, with half maximum inhibitory concentrations of 378.0, 244.1, and 621.1 nM, respectively, and it did not affect 11β-hydroxysteroid dehydrogenase two at 100 μM. (figshare.com)
Metabolism1
Short-chain dehydrogenases/reductases (SDRs) constitute a universal superfamily of functionally heterogeneous proteins and participate in the metabolism of steroids, prostaglandins, retinoids, aliphatic alcohols, and xenobiotics. (avhandlingar.se)
Glucocorticoids1
Patients with classic salt-losing 3-beta-hydroxysteroid dehydrogenase require initial replacement of glucocorticoids and mineralocorticoid, plus the addition of sex steroids at appropriate, pubertal age. (naqlafshk.com)
Superfamily1
Short-chain dehydrogenases/reductases (SDR) constitute a superfamily of proteins catalysing reactions of a wide range of substrates in all life forms. (avhandlingar.se)
Steroids1
17β-Hydroxysteroid dehydrogenases (17β-HSDs) are responsible for the pre-receptor reduction/oxidation of steroids at the 17-position into active/inactive hormones, and the 15 known enzymes vary in their substrate specificity, localisation, and directional activity. (bath.ac.uk)
Activity1
We speculate that hexose-6-phosphate dehydrogenase activity and therefore reduced nicotinamide-adenine dinucleotide phosphate supply may be crucial in determining the directionality of 11beta-HSD1 activity. (ox.ac.uk)
In pea (Pisum sativum), the short-chain alcohol dehydrogenase-like protein (SAD) gene family consists of at least three members (SAD-A, -B, and -C). The SAD genes are transiently expressed in plants after short exposures to ultraviolet-B radiation, which in turn leads to formation of SAD protein in leaf and stem tissue upon prolonged irradiation. (avhandlingar.se)
Selective1
Methods: A series of benzylidene cyclopentanone derivatives were synthesized, and the selective inhibitory effects on rat, mouse and human 11β-hydroxysteroid dehydrogenase one and two were screened. (figshare.com)
Infants1
Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels. (medscape.com)
Inactivation1
17beta-hydroxysteroid dehydrogenases (17beta-HSDs) catalyse the pre-receptor activation/inactivation of hormones and other substrates. (ox.ac.uk)
Crystallography1
X-ray crystallography and site-directed mutagenesis were used to better understand the structure/function relationships in the family of short-chain dehydrogenases/reductases (SDR). (avhandlingar.se)
Human2
Description: A competitive ELISA for quantitative measurement of Human 17 β hydroxysteroid dehydrogenase 14(HSD17B14) in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (glideruniversity.org)
Conclusion: WZS08 selectively inhibits rat, mouse, and human 11β-hydroxysteroid dehydrogenase 1, and can treat non-alcoholic fatty liver disease in a mouse model. (figshare.com)
17 beta-Hydroxysteroid dehydrogenase (17 beta-HSD) controls the last step in the formation of all androgens and all estrogens. (richardvigilantebooks.com)
How does 17-beta hydroxysteroid dehydrogenase 3 affect male sexual development? (richardvigilantebooks.com)