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)
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)
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)
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)
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)
Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce. (eurospe.org)
We aimed to investigate phenotypical, molecular, and biochemical characteristics, as well as the genotype-phenotype relationship in patients with 3βHSD2 deficiency. (eurospe.org)
We evaluated steroid hormone profiles in individuals with homozygous and heterozygous HSD3B2 gene defects, mutation-negative 'functional 3βHSD2 deficiency', and patients with 21-hydroxylase deficiency (21-OHD). (eurospe.org)
Children with homozygous 3βHSD2 deficiency ( n =31), individuals with heterozygous 3βHSD2 deficiency ( n =31), children with classical 21-OHD ( n =57), functional 3βHSD2 deficiency ( n =18), and healthy controls ( n =172). (eurospe.org)
There was a strong genotype-phenotype-steroid metabolome correlation in patients with 3βHSD2 deficiency. (eurospe.org)
The plasma ratio of (17OH-Pregnenolone+Pregnenolone+DHEA)/(17OH-Progesterone+Progesterone+Androstenedione+ Cortisol) was superior to (17OH-Pregnenolone/Cortisol) to discriminate 3βHSD2 deficiency from the other groups. (eurospe.org)
Heterozygote carriers and functional 3βHSD2 deficiency patients showed higher Δ5-to-Δ4 steroids than controls. (eurospe.org)
11-oxygenated androgens were significantly lower in patients with 3βHSD2 deficiency. (eurospe.org)
This largest pediatric cohort of patients with 3βHSD2 deficiency will be of importance to gain a deeper understanding of the steroid metabolome and underlying molecular pathogenesis of 3βHSD2 deficiency as well as the disease-specific complications of specific molecular genetic variants. (eurospe.org)
17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. (degruyter.com)
The most frequent presentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending vagina, with or without clitoromegaly. (degruyter.com)
A low testosterone/androstenedion (T/A) ratio is suggestive of 17βHSD-3 deficiency, and such diagnosis can be confirmed with molecular genetic studies. (degruyter.com)
T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene. (degruyter.com)
4. Rosler A. 17 beta-hydroxysteroid dehydrogenase3 deficiency in the Mediterranean population. (degruyter.com)
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. (degruyter.com)
Familial male pseudohermaphroditism with gynaecomastia due to 17 betahydroxysteroid dehydrogenase deficiency. (degruyter.com)
17betahydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (degruyter.com)
17p-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17 β HSD3 gene. (degruyter.com)
11. George MM, New MI, Ten S, Sultan C, Bhangoo A. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. (degruyter.com)
12. Bertelloni S, Dati E, Hiort O. Diagnosis of 17 beta-hydroxysteroid dehydrogenase deficiency. (degruyter.com)
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (degruyter.com)
Hypoglycemia due to 3β-Hydroxysteroid Dehydrogenase type II Deficiency in a Newborn. (nih.gov)
The differential diagnosis is made by the marked accumulation of the steroid above the enzymatic block: 17-OHP for 21-OH deficiency, 11-deoxycortisol for 11-OH deficiency and pregnelonone and other Δ 5 precursors for 3β-HSD deficiency. (health.am)
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)
Isomerase4
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)
3β-HSD is also known as delta Δ5-4-isomerase, which catalyzes the oxidative conversion of Δ5-3β-hydroxysteroids to the Δ4-3-keto configuration and is, therefore, essential for the biosynthesis of all classes of hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, and estrogens. (wikipedia.org)
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)
The enzyme 3 beta-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase (3 beta-HSD) catalyses the oxidation and isomerisation of 5-ene-3 beta-hydroxypregnene and 5-ene-hydroxyandrostene steroid precursors into the corresponding 4-ene-ketosteroids necessary for the formation of all classes of steroid hormones. (embl.de)
Nonclassic1
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)
Adrenal6
The type I isoenzyme is expressed in placenta and peripheral tissues, whereas the type II 3β-HSD isoenzyme is expressed in the adrenal gland, ovary, and testis. (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)
Anatomically, the adrenal gland can be divided into three zones, (1) the zona glomerulosa, which predominately produces mineralocorticoid, (2) the zona fasciculata, which predominately produces glucocorticoid, and (3) the zona reticularis, which predominantly produces androgens. (medscape.com)
Normal adrenal steroid biosynthesis results in 3 products: mineralocorticoid (aldosterone), glucocorticoids (cortisol), and androgens (androstenedione). (medscape.com)
A CBC count, serum biochemical analyses, urinalysis, ACTH stimulation test, and ultrasonographic evaluation of the adrenal glands were performed in each dog 1, 3 to 4, 6 to 7, 12 to 16, and 24 to 28 weeks after initiation of treatment. (avma.org)
DHEA-S is a C-19 (19 carbon atoms) steroid hormones and 1 of 3 androgens (DHEA, DHEAS, androstenedione) secreted by the adrenal gland. (medscape.com)
Androgens1
17 beta-Hydroxysteroid dehydrogenase (17 beta-HSD) controls the last step in the formation of all androgens and all estrogens. (richardvigilantebooks.com)
Testosterone3
The 3β-HSD complex is responsible for the conversion of: Pregnenolone to progesterone 17α-Hydroxypregnenolone to 17α-hydroxyprogesterone DHEA to androstenedione Androstenediol to testosterone Androstadienol to androstadienone 3β-HSD belongs to the family of oxidoreductases, to be specific, those acting on the CH-OH group with NAD+ or NADP+ as acceptor. (wikipedia.org)
17β-HSD Type 3 (17β-HSD3) has been seen to be over-expressed in prostate cancer, and catalyses the reduction of androstenedione (Adione) to testosterone (T), which stimulates prostate tumour growth. (bath.ac.uk)
17β-HSD type 3 (17β-HSD3) catalyses the reduction of the weakly androgenic androstenedione (adione) to testosterone, suggesting that specific inhibitors of 17β-HSD3 may have a role in the treatment of hormone-dependent prostate cancer and benign prostate hyperplasia. (ox.ac.uk)
Inhibitor3
STX2171, a 17β-hydroxysteroid dehydrogenase type 3 inhibitor, is efficacious in vivo in a novel hormone-dependent prostate cancer model. (ox.ac.uk)
Objective -To determine the efficacy of trilostane, a 3β-hydroxysteroid dehydrogenase inhibitor, in dogs with pituitary-dependent hyperadrenocorticism (PDH). (avma.org)
A therapeutic alternative is trilostane, a competitive inhibitor of 3,hydroxysteroid dehydrogenase and its efficacy has been shown to be similar to that of mitotane. (vin.com)
Metabolism3
Structure-function relationships of 3 beta-hydroxysteroid dehydrogenases involved in bile acid metabolism. (ox.ac.uk)
Hydroxysteroid (17β) dehydrogenases (HSD17Bs) form an enzyme family characterized by their ability to catalyze reactions in steroid and lipid metabolism. (richardvigilantebooks.com)
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)
Cortisol3
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)
Licorice influences cortisol production by inhibiting the enzyme 11-beta-hydroxysteroid dehydrogenase. (richardvigilantebooks.com)
[ 3 ] The diagnosis of CAH depends on the demonstration of inadequate production of cortisol and/or aldosterone in the presence of accumulation of excess concentrations of precursor hormones. (medscape.com)
HSD3B22
In humans, there are two 3β-HSD isozymes encoded by the HSD3B1 and HSD3B2 genes. (wikipedia.org)
Humans express two 3β-HSD isozymes, HSD3B1 (type I) and HSD3B2 (type II). (wikipedia.org)
Testicular2
Male pseudohermaphroditism caused by mutations of testicular 17-β-hydroxysteroid dehydrogenase 3. (degruyter.com)
Administration of POS extract reversed the ACR-induced epididymides weight loss with improved semen quality and count, ameliorated the ACR-decreased testicular lesion scoring, testicular oxidative stress, testicular degeneration, Leydig cell apoptosis and the dysregulated PCNA and Caspase-3 expression in a dose-dependent manner. (biomedcentral.com)
Type2
5% of wild-type 3βHSD2 activity in vitro were associated with non-salt losing clinical phenotype. (eurospe.org)
8. Rosler A, Silverstein S, Abeliovich D. A (R80Q) mutation in 17 betahydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. (degruyter.com)
Steroids3
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)
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)
17β-Hydroxysteroid dehydrogenases (17β-HSDs) catalyse the 17-position reduction/oxidation of steroids. (ox.ac.uk)
Oxidoreductases3
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)
Short-chain dehydrogenases/reductases (SDRs) constitute a large family of NAD(P)(H)-dependent oxidoreductases, sharing sequence motifs and displaying similar mechanisms. (researchgate.net)
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)
COG1028: Dehydrogenases with different specificities (related to short-chain alcohol d. (cornell.edu)
The MDR superfamily with ~350-residue subunits contains the classical liveralcohol dehydrogenase (ADH), quinone reductase, leukotriene B4 dehydrogenase and many more forms. (researchgate.net)
Zinc binding to the peptide replica and analogs to residues 93-115 of horse liveralcohol dehydrogenase (ADH) was examined by competition of the peptides and the chromophoric chelator 4-(2- pyridylazo)resorcinol for zinc and X-ray absorption fine structure analysis of the zinc ligands. (researchgate.net)
HSD17B31
The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. (richardvigilantebooks.com)
Diagnosis1
Generally, the medical team has a final diagnosis and has determined the etiology of the intersex state by the end of 3 weeks. (health.am)
Compounds1
Omega-3 rich oil and an interesting amino acids profile were detected in the seeds as well as the presence of a high content of polyphenolic compounds, including two structurally new compounds (phenylpropane derivatives) which were isolated and structurally characterized. (ac.be)
Genes1
Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels. (medscape.com)
Short-chain dehydrogenases/reductases (SDR) constitute a superfamily of proteins catalysing reactions of a wide range of substrates in all life forms. (avhandlingar.se)
Reactions1
Human steroidogenesis, showing reactions of 3β-HSD near-left in green box. (wikipedia.org)