• 5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. (medlineplus.gov)
  • Many people with 5-alpha reductase deficiency are assigned female at birth based on their external genitalia. (medlineplus.gov)
  • People with 5-alpha reductase deficiency do not develop much facial or body hair. (medlineplus.gov)
  • Variants (also called mutations) in the SRD5A2 gene cause 5-alpha reductase deficiency. (medlineplus.gov)
  • These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency. (medlineplus.gov)
  • Researchers believe that people with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. (medlineplus.gov)
  • in each cell) will have the characteristic signs of 5-alpha reductase deficiency. (medlineplus.gov)
  • 5-Alpha-reductase type 2 deficiency (5-ARD) is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically active dihydrotestosterone (DHT). (medscape.com)
  • Because DHT is required for the normal masculinization of the external genitalia in utero, genetic males with 5-alpha-reductase type 2 deficiency are born with ambiguous genitalia (ie. (medscape.com)
  • Patients with 5-alpha-reductase type 2 deficiency classically present with striking ambiguity of the genitalia, with a clitoral-like phallus, bifid scrotum, pseudovaginal perineoscrotal hypospadias, and a rudimentary prostate. (medscape.com)
  • The cause of 5-alpha-reductase type 2 deficiency is the deficiency of the type 2 isozyme of 5-alpha-reductase. (medscape.com)
  • As with most single enzyme disorders, 5-alpha-reductase type 2 deficiency is an autosomal recessive trait and sex limited because the clinical syndrome only affects genetic males, with very subtle phenotypic findings in homozygous females. (medscape.com)
  • The root cause of this disorder is a deficiency in the 5-alpha-reductase type 2 isoenzyme, which transforms testosterone to DHT. (medscape.com)
  • Biochemical effects of 5-alpha-reductase type 2 deficiency in testosterone biosynthesis. (medscape.com)
  • Lack of expression of this gene clinically correlates with the symptoms of 5-alpha-reductase type 2 deficiency. (medscape.com)
  • Linkage analysis has demonstrated that the type 1 enzyme is unrelated to the clinical syndrome of 5-alpha-reductase type 2 deficiency. (medscape.com)
  • Interestingly, partial virilization of males with 5-alpha-reductase type 2 deficiency occurs at puberty and may be attributable to the rise in type 1 enzyme activity or expression at that time. (medscape.com)
  • This is usually due to a 5-alpha-reductase deficiency (5alpha-RD-2) or 17-beta-hydroxysteroid dehydrogenase deficiency (17beta-HSD-3). (todayifoundout.com)
  • Diagnosis of 5-alpha-reductase type 2 deficiency (5-ARD) is usually made in the newborn period when the infant presents with ambiguous genitalia. (medscape.com)
  • If 5-alpha-reductase deficiency is considered in a newborn, a broad approach to ambiguous genitalia should be taken. (medscape.com)
  • Parental consanguinity increases the child's risk for autosomal recessive disorders including 5-alpha reductase type 2 deficiency. (medscape.com)
  • In a recent study, a cohort of 55 patients with 5-alpha-reductase type 2 deficiency displayed varied phenotypes in the neonatal period. (medscape.com)
  • however, in some individuals with 5-alpha-reductase type 2 deficiency, the testes can be found in the labioscrotal folds or retained in the abdomen. (medscape.com)
  • Females homozygous for 5-alpha-reductase type 2 deficiency have very subtle manifestations, such as delayed menarche, minimal acne, and minimal body hair. (medscape.com)
  • Classic conditions such as17ß-hydroxysteroid dehydrogenase deficiency type 3, 5α-reductase deficiency type 2, and androgen insensitivity syndrome were excluded. (bvsalud.org)
  • METHODS: This is a systematic literature review evaluating original research articles and relevant reviews between 1974 and 2018 addressing DSD and fertility, in vitro maturation of sperm, and histological/ultrastructural assessment of gonadal tissue in complete and partial androgen insensitivity syndrome, 17β-hydroxysteroid dehydrogenase type 3 and 5α-reductase deficiency. (ox.ac.uk)
  • 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)
  • Several reports have appeared in which proteins, including thioltransferase, protein disulfide isomerase, and 3-α-hydroxysteroid dehydrogenase, characterized for other activities have been identified as having DHAA reductase activity in vitro. (umn.edu)
  • 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 SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. (medlineplus.gov)
  • Specifically, the steroid 5-alpha reductase 2 enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. (medlineplus.gov)
  • Its product is expressed only in nongenital skin and liver at low levels from the time the individual is aged 3 years until puberty, at which time enzyme expression is measurable in sebaceous glands and scalp. (medscape.com)
  • Consistent with increase in serum T, piperine increased Leydig cell number, cell size, and multiple steroidogenic pathway proteins, including steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme, 3β-hydroxysteroid dehydrogenase 1, 17α-hydroxylase/20-lyase, and steroidogenic factor 1 expression levels. (frontiersin.org)
  • 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)
  • An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. (lookformedical.com)
  • Dynamics of neurosteroids in the brain: special reference to steroidogenic enzyme 3-hsd gene expression in the brain of an indian major carp labeo rohita (ham. (journalcra.com)
  • 3,17β-Hydroxysteroid dehydrogenase (3,17β-HSD) from C. testosteroni is a Testosterone -inducible protein and a key enzyme in steroid degradation. (idexlab.com)
  • The neuroactive progestogen allopregnanolone (also known as 3,5-tetrahydroprogesterone or 3-hydroxy-5-pregnan-20-one) is synthesized from progesterone by isozymes on the enzyme 5alpha-reductase (5-reductase) and by the enzyme 3alpha-hydroxysteroid dehydrogenase (3-HSD). (deubiquitinaseinhibitor.com)
  • 7a-hydroxycholesterol then becomes 7a-hydroxy-cholestene-3-one, which is made possible by the enzyme 3-beta-hydroxysteroid dehydrogenase type 7. (smpdb.ca)
  • The first, continuing in the liver, uses the enzyme 3-oxo-5-beta-steroid-4-deydrogenase to become 7a-hydroxy-5b-cholestan-3-one. (smpdb.ca)
  • The normal chromosomal study (46,XY) and normal testosterone conversion enzyme study (particularly 5-reductase level) exclude other causes of androgen resistance. (mhmedical.com)
  • In the human, an aldo-keto reductase (AKR) gene family (AKR1C) has been identified near the telomere on chromosome 10p15 that contains at least six aldo-keto reductase family 1, member C genes [ 11 ]. (biomedcentral.com)
  • After that, aldo-keto reductase family 1 member C4 is used to create 3a,7a-dihydroxy-5b-cholestane. (smpdb.ca)
  • Short-chain dehydrogenases/reductases (SDR) constitute a superfamily of proteins catalysing reactions of a wide range of substrates in all life forms. (avhandlingar.se)
  • 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)
  • This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. (cancerindex.org)
  • 17β-HSDcl belongs to the SDR (short-chain dehydrogenase/reductase) superfamily. (rcsb.org)
  • 3,17β-HSD is a member of the short-chain dehydrogenase/reductase (SDR) superfamily. (idexlab.com)
  • Only the genes coding for 5-alpha-reductase type 1 ( SRD5A1 ) and 5-alpha-reductase type 2 ( SRD5A2 ) are pertinent to the conversion of testosterone to DHT, whereas the gene coding 5-alpha-reductase type 3 is unrelated to any disorders of male sexual development, and may be implicated in a rare disorder of glycosylation. (medscape.com)
  • Variants in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. (medlineplus.gov)
  • The development of female sex characteristics does not require DHT, so a lack of steroid 5-alpha reductase 2 activity does not cause physical changes in these individuals. (medlineplus.gov)
  • at 100 μM substrate (4-oestrene-3,17-dione)] by occupying the putative steroid-binding site. (rcsb.org)
  • 3-Hydroxy steroid dehydrogenase (3-HSD) is a member of the aldo-keto reductase family. (journalcra.com)
  • The progesterone metabolite of neuroactive steroid, 3,5-THPROG is synthesized in different regions of brain. (journalcra.com)
  • AKRs are tissue-specific hydroxysteroid dehydrogenases that interconvert weak steroid hormones to their more potent counterparts and regulate processes involved in development, homeostasis and reproduction. (biomedcentral.com)
  • The specific activity of three enzymes (3α-hydroxy-steroid dehydrogenase, leucine aminopeptidase, lactic dehydrogenase) increased while the activity of another three enzymes (6a,7α-hydroxylase, 5α-reductase, alkaline phosphatase) decreased in the sublines which are androgen insensitive and less differentiated. (johnshopkins.edu)
  • Structure-based rational design of hydroxysteroid dehydrogenases for improving and diversifying steroid synthesis. (nih.gov)
  • Construction of a biosensor mutant of Comamonas testosteroni for Testosterone determination by cloning the EGFP gene downstream to the regulatory region of the 3,17β-HSD gene. (idexlab.com)
  • These knock-out mutants showed an enhanced expression of both the βhsd gene and the hsdA gene (the latter coding for 3α-HSD/CR) in the presence of Testosterone . (idexlab.com)
  • 3. There is an urgent need for deeper understanding of the cellular and molecular mechanisms of progesterone resistance in endometriosis, for both ectopic and eutopic tissues, to underpin novel approaches to treatment. (emjreviews.com)
  • 2 In an elegant review, Redwine 3 challenged this theory and demonstrated, by analysing a large number of parameters, that endometriosis tissue is primarily reflected dissimilarity than similarity with eutopic endometrium in the uterus, including inadequate secretory differentiation in endometriotic cells under progesterone dominance during the luteal phase. (emjreviews.com)
  • 6 observed that 17-β-hydroxysteroid dehydrogenase type 2 (17β-HSD2), the activity of which transforms oestradiol to less potent oestrogen (oestrone) and is stimulated by progesterone in endometrial glands, was significantly reduced in endometriotic tissue during the luteal phase, along with markedly repressed levels of immunoprecipitable PGR throughout the menstrual cycle. (emjreviews.com)
  • Aldo-keto reductases interconvert weak androgens, estrogens, progestins, mineralocorticoids and glucocorticoids to their more potent counterparts by catalyzing the reduction and oxidation of keto- and hydroxysteroids, respectively, thereby regulating a wide range of physiological processes involved in development, homeostasis and reproduction [ 16 ]. (biomedcentral.com)
  • The 3-HSD catalyzes the conversion of 5-dihydroprogesterone (5-DHP) and 5-dihydrotestosterone (5-DHT) into 3,5-tetrahydroxyprogesterone (3,5-THPROG) and 3,5-tetrahydroxytestosterone (3,5-THT) respectively. (journalcra.com)
  • The present study investigated the inhibitory effects of gossypol acetate on rat 5α-reductase 1, 3α-hydroxysteroid dehydrogenase, and retinol dehydrogenase 2 for androgen metabolism. (biofron.com)
  • Acne is one of the most common multifactorial chronic inflammatory diseases of the pilosebaceous follicles involving androgen induced sebaceous hyperplasia, altered follicular keratinisation, hormonal imbalance, immune hypersensitivity, and bacterial ( Propionibacterium acnes ) colonisation [ 2 , 3 ]. (hindawi.com)
  • Rat 5α-reductase 1, 3α-hydroxysteroid dehydrogenase, and retinol dehydrogenase 2 were expressed in COS-1 cells. (biofron.com)
  • Gossypol acetate inhibited 5α-reductase 1 and 3α-hydroxysteroid dehydrogenase with IC50 values of 3.33 ± 0.07 and 0.52 ± 0.06 × 10-6 M in the expressed enzymes as well as 8.512 ± 0.079 and 1.032 ± 0.068 × 10-6 M in intact rat immature Leydig cells, respectively. (biofron.com)
  • The 5-alpha-reductase type 2 isoenzyme is expressed in external genital tissues early in gestation, making its action necessary for the development of normal male external genital anatomy in the fetus. (medscape.com)
  • Three genes coding for 5-alpha-reductase have been identified, each for a slightly different isoenzyme. (medscape.com)
  • In adulthood, the 5-alpha-reductase type 2 isoenzyme is expressed in high levels in the prostate, genital skin, epididymis, seminal vesicle, and liver. (medscape.com)
  • Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty. (medlineplus.gov)
  • Quantitative trait loci (QTL) for age of puberty, nipple number and ovulation rate have been identified in Meishan crosses on pig chromosome 10q (SSC10) near the telomere, which is homologous to human chromosome 10p15 and contains an aldo-keto reductase (AKR) gene cluster with at least six family members. (biomedcentral.com)
  • [ 7 , 8 ] The gene for 5-alpha-reductase type 2 has been determined to be on band 2p23. (medscape.com)
  • The gene for 5-alpha-reductase type 1 is located on band 5p15. (medscape.com)
  • In particular, obesity has been linked to increased risk of developing a wide range of non-communicable diseases, such as type 2 diabetes, fatty liver disease, hypertension, dyslipidemia, coronary heart disease, stroke, and cancer [ 3 ]. (biomedcentral.com)
  • Importantly, 5-reductase type I and 3-HSD are expressed within the BLA suggesting that allopregnanolone is locally synthesized (Ag -Balboa et al. (deubiquitinaseinhibitor.com)
  • 3-Keto-5α-abiraterone, also known as 17-(3-pyridyl)-5α-androst-16-en-3-one, is an active metabolite of abiraterone acetate that has been found to possess androgenic activity and to stimulate prostate cancer progression. (wikipedia.org)
  • 3-Keto-5α-abiraterone may counteract the clinical effectiveness of abiraterone acetate, and so inhibition of its formation using the 5α-reductase inhibitor dutasteride is being investigated as an adjunct to abiraterone acetate in the treatment of prostate cancer. (wikipedia.org)
  • 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)
  • Structure-based mechanisms: On the way to apply alcohol dehydrogenases/reductases to organic-aqueous systems. (nih.gov)
  • Khanna M, Qin KN, Cheng KC: Distribution of 3 alpha-hydroxysteroid dehydrogenase in rat brain and molecular cloning of multiple cDNAs encoding structurally related proteins in humans. (drugbank.com)
  • and Δ4-abiraterone to 3-keto-5α-abiraterone by 5α-reductase. (wikipedia.org)
  • In addition, viable and fertile mouse offspring have been obtained from in vitro produced spermatozoa by oocyte microinjection ( 3 , 4 ). (elifesciences.org)
  • 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)
  • Data from family studies confirmed familial clustering [3-5]. (springer.com)
  • A member of the monomeric reductase gene family. (drugbank.com)
  • Molecular docking study of gossypol on the crystal structure of 3α-hydroxysteroid dehydrogenase was performed. (biofron.com)
  • The protein was further characterized and results support the suggestion that serum albumin acts as an antioxidant and exerts a significant glutathione-dependent DHAA-reductase activity that may be important in the physiologic recycling of ascorbic acid. (umn.edu)
  • In the present study, the gene expression of 3-HSD in the brain of Labeo rohita was identified. (journalcra.com)
  • In the present study, a 66 kD protein was purified strictly on the basis of its DHAA-reductase activity and was identified as rat serum albumin. (umn.edu)
  • Identification and isolation of a regulator protein for 3,17β-HSD expressional regulation in Comamonas testosteroni. (idexlab.com)
  • Elucidating the mechanism of 3,17β-HSD gene (βhsd) regulation may help us to generate prospective C. testosteroni mutants for bioremediation. (idexlab.com)
  • Ciaccio PJ, Jaiswal AK, Tew KD: Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (drugbank.com)
  • 2,3,4 In particular, some members of the CAH community identify as having an endocrine disorder, not a DSD /intersex condition. (pediatricurologybook.com)
  • According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
  • 7a-hydroxy-cholestene-3-one then is used in two different chains of reactions. (smpdb.ca)
  • It is then transported back into intracellular space, where after its used in 3 different reactions, its derivatives interact with intestinal microflora in the extracellular space to become lithocholyltaurine, lithocholic acid glycine conjugate, and lithocholic acid. (smpdb.ca)
  • Revisiting 7a-hydroxy-cholestene-3-one, the second chain of reactions it is involved in follows a similar path as the first, moving through the mitochondria, endoplasmic reticulum and peroxisome until choloyl-CoA is formed, which then is used in three reactions so that its derivatives may leave the cell to interact with intestinal microflora and become taurodeoxycholic acid, deoxycholic acid glycine conjugate and deoxycholic acid. (smpdb.ca)
  • These metabolites are isomers: the four hydroxy metabolites are diastereoisomers, and the two 3-keto metabolites are isomers. (aacc.org)
  • Sex development of the human embryo is divided into 3 stages. (e-apem.org)
  • Lou H, Hammond L, Sharma V, Sparkes RS, Lusis AJ, Stolz A: Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding. (drugbank.com)
  • We found that a 2.4 kb regulatory DNA fragment upstream of the 3,17β-HSD gene (βhsd) responds to steroids and triggers βhsd gene induction. (idexlab.com)
  • The organotypic culture procedure, which preserves testicular tissue architecture, microenvironment and cell interactions, has been used successfully to obtain spermatozoa from fresh or frozen/thawed mouse prepubertal testicular tissues ( 3 - 6 ). (elifesciences.org)
  • After integration of pK2.4-EGFP-4 into the βhsd gene promoter, 3,17β-HSD expression could not be induced such that EGFP expression in the mutant cells was at low levels. (idexlab.com)
  • Upon examining the genome with bioinformatics tools, a gene (brp) coding for a regulator protein (BRP) for 3,17β-HSD expression was found upstream of the βhsd gene. (idexlab.com)
  • On the word of statistics, globally around 85% of young adults aged 12-25 years old, approximately 8% of adults aged 25-34 years old, and 3% of adults aged 35-44 years old experience certain degree of acne [ 9 ]. (hindawi.com)