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Topic: 5 alpha reductase deficiency

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	Follicle.com - Methods and compositions for inhibiting 5 alpha -reductase activity
		A prototype for 5 alpha -reductase inhibitors is 17 beta -N,N-diethylcarbamoyl-4-methyl-4-aza-5 alpha -androstan-3-one (4-MA), which behaves as an inhibitor of 5 alpha -reductase in vivo, decreasing the prostatic concentration of 5 alpha -DHT in intact male rats or in castrated male rats given testosterone propionate.
		The ability of gamma -linolenic acid to inhibit 5 alpha -reductase in solubilized microsomes indicates that the gamma -linolenic acid inhibition may not be rigidly dependent on the native source of endoplasmic reticulum membranes.
		5 alpha -reductase inhibition using compositions of the present invention may also be utilized in such methods to provide a baseline control for determining the efficacy of a candidate substance, as well as to test such a candidate substance for synergistically enhancing the 5 alpha -reductase inhibitory activity of the compositions disclosed herein.
	www.follicle.com /section3/3_4_2.html (16857 words)

	eMedicine - 5-Alpha-Reductase Deficiency : Article Excerpt by: Bruce E Wilson, MD (Site not responding. Last check: 2007-10-12)
		Because DHT is required for the normal masculinization of the external genitalia in utero, genetic males with 5-ARD are born with ambiguous genitalia (ie, male pseudohermaphroditism).
		Pathophysiology: A deficiency of the type 2 isozyme 5-alpha-reductase, which transforms testosterone to DHT, is the root cause of this disorder.
		The conversion involves hydroxylation at the 5 carbon position of the A ring of the steroid molecule.
	www.emedicine.com /ped/byname/5-alpha-reductase-deficiency.htm (601 words)

	5-alpha reductase - Wikipedia, the free encyclopedia
		The second isoenzyme is deficient in 5-alpha-reductase deficiency which leads to a form of intersexualism.
		Inhibition of 5-alpha reductase results in decreased produciton of DHT, increased levels of testosterone and possibly increased levels of estradiol.
		Gynecomastia is a possible side effect of 5-alpha reductase inhibition.
	en.wikipedia.org /wiki/5-alpha_reductase (187 words)

	Methods and compositions for inhibiting 5.alpha.-reductase activity - Patent 5605929
		The method of claim 5, wherein the androgen sensitive organ is identified as a prostate gland, coagulating gland, seminal vesicle or a preputial gland.
		reductase including isozymes genetically engineered and expressed in cells; obtaining a candidate substance; contacting a culture of sebaceous cells with said candidate substance; simultaneously contacting said culture with a composition of the present invention having 5.alpha.-reductase inhibitory activity; and determining the extent of 5.alpha.-reductase inhibition.
		NADH:Menadione Reductase and UDP-Glucuronic Acid:5.alpha.-DHT Glucuronyl Transferase Inhibition
	www.freepatentsonline.com /5605929.html (15029 words)

	5 alpha-reductase - General Practice Notebook (Site not responding. Last check: 2007-10-12)
		5 alpha-reductase is an enzyme that is present in highest concentration in the male reproductive tissues, the skin, especially that overlying the genitalia, and the liver.
		In 5 alpha-reductase deficiency, the type 2 isoenzyme is that which is lacking.
		Men with this condition do not develop male-pattern baldness despite evidence that the type 1 isoenzyme is the dominant form in the adult male scalp, and in 5 alpha-reductase deficiency, this isoenzyme is present at normal levels.
	www.gpnotebook.co.uk /cache/1953169455.htm (231 words)

	Notes from the Scientific Field (Site not responding. Last check: 2007-10-12)
		The gene for the type 1 isoenzyme is located on the short arm of chromosome 5, while the gene for the type 2 isoenzyme is located on the short arm of chromosome 2.
		Patients with benign prostatic hyperplasia treated with the recommended dose of 5 mg daily reported impotence (3-4%) and ejaculation disorders (4.4%) [Dr. Felman is using 1mg doses with MUCH less incidence of side effects] Finasteride has no effects on serum lipids and bone density, and has no adverse hormonal effects in healthy men.
		Found that men treated with 5 mg/day of finasteride for 4 weeks had significantly decreased concentration of dihydrotestosterone in bald scalp, resulting in a mean level similar to the baseline levels found in hairy scalp.
	home.earthlink.net /~drfelman/notes.html (981 words)

	Library Selection 10 - Imperato-McGinley... rhesus monkeys... T action...& gender identity differentiation
		Male pseudohermaphroditism due to 5 alpha-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974.
		Recently, the 5 alpha-reductase-2 gene defect in the large Dominican kindred was found to be due to a single base substitution of thymidine (TGG) for cytosine (CGG) on exon 5 of the 5 alpha-reductase-2 gene, causing a tryptophan replacement of arginine at amino acid 246 (R246W) of the enzyme.
		Analyses of 5 alpha-RA in microsomes from the hypothalamic-preoptic area-amygdala (HPA) at dilutions of 1/25 and 1/50 indicated higher enzyme activity with increasing dilution of the microsomes.
	www.gendercare.com /library/tipslibrary10.html (5674 words)

	5 Alpha Reductase Deficiency
		The condition 5-alpha-reductase type 2 deficiency (5-ARD) is an autosomal recessive sex-linked condition resulting in the inability to convert testosterone to the more physiologically active dihydrotestosterone (DHT) On Clinical examination : She was thin built, Height : 5 Feet 7 inches, Arm span : 187 cms.
		A deficiency of the type 2 isozyme 5-alpha-reductase, which transforms testosterone to DHT, is the root cause of this disorder.
		Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.
	www.bhj.org /journal/2004_4602_april/html/alpha_239.htm (854 words)

	Testosterone Therapy (Site not responding. Last check: 2007-10-12)
		The cause is either a receptor defect or a deficiency of the enzymes responsible for the conversion of testosterone to DHT or estradiol (5-alpha reductase and aromatase).
		In androgen resistance due to an androgen receptor deficiency there is a continuum of functional disturbances which is reflected in the widely varying clinical picture of male pseudohermaphroditism.
		Manifestations of an estrogen deficiency in men are disturbances of lipid metabolism, obesity and insulin resistance with hyperinsulinemia.
	www.get-back-on-track.com /en/professionals/02_hypogonadismus/p_con_02_03_04.php (276 words)

	MEDLINE_1966-1995 - Results of the search <page 1>
		The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone (DHT) in females are characterized.
		Three females from the large Dominican kindred with 5 alpha-reductase-2 deficiency were identified as homozygous for a point mutation (R246W, C-->T) on exon 5 of the 5 alpha-reductase-2 gene by single strand DNA conformational polymorphism analysis and DNA sequence analysis.
		Thus, females with 5 alpha-reductase-2 deficiency highlight a role for DHT in hirsutism and/or menstrual disorders.
	www.bireme.br /cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&nextAction=lnk&base=MEDLINE_1966-1995&exprSearch=7593420&indexSearch=UI&lang=i (269 words)

	5-alpha-reductase deficiency - Wikipedia, the free encyclopedia
		It has been suggested that this article or section be merged with Guevedoche.
		5-alpha-reductase deficiency (5-ARD) is a condition caused by a mutation of the 5-alpha reductase type 2 gene.
		Jeffrey Eugenides won a Pulitzer Prize for his 2003 novel Middlesex, which explores this deficiency.
	en.wikipedia.org /wiki/5-alpha-reductase_deficiency (372 words)

	Uniparental Disomy in Steroid 5{alpha}-Reductase 2 Deficiency -- Chávez et al. 85 (9): 3147 -- Journal of ...
		Exon 4 of the SRD5A2 gene was amplified by PCR in the presence of
		-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.
		-steroid reductase type 2 in a family with deficiency of the enzyme.
	jcem.endojournals.org /cgi/content/full/85/9/3147 (2336 words)

	Intersex - Health Centers
		Deficiencies in any of these enzymes can result in inadequate testosterone and produce a different syndrome of 46 XY, intersex.
		People with 5-alpha-reductase deficiency lack the enzyme needed to convert testosterone to dihydrotestosterone (DHT).
		There are at least 5 different types of 5-alpha-reductase deficiency.
	www.wsbtv.com /encyclopedia/6862362/detail.html (1384 words)

	Hair-friend : Fast treatment for hair-loss.
		It is interesting to note that individuals with a deficiency in 5 alpha reductase do not develop androgenetic alopecia.
		The enzyme 5 alpha reductase is thought to be the major cause of this.
		If an individual has androgenetic alopecia the overall levels of testosterone may be normal however the activity of 5 alpha reductase is greater than normal which results in increased amounts of dihydrotestosterone in the hair follicle.
	www.treatmentofbaldness.com /products3/Androgenetic%20alopecia.htm (238 words)

	A
		Alpha-1 adrenergic receptor blocking agents --known as alpha-1 blockers or alpha blockers -- are used to treat BPH, because they reduce the tone of striated and smooth muscle, thereby decreasing urethral resistance and relieving symptoms of obstruction.
		The clinical features of androgen receptor deficiency, also known as Reifenstein syndrome, may range from infertility alone to pseudohermaphroditism (incomplete masculinization of the external male genitalia in men with bilateral testes).
		Irreversible fertility often results from the severe deficiency or lack of sperm caused by this disorder.
	www.drrajmd.com /gloss.htm (7256 words)

	MEDLINE_1966-1995 - Results of the search <page 1>
		Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone.
		The 5 alpha-reductase type 2 gene (gene symbol SRD5A2) was cloned and shown to contain five exons and four introns.
		The high proportion of compound heterozygotes suggests that the carrier frequency of mutations in the 5 alpha-reductase type 2 gene may be higher than previously thought.
	www.bireme.br /cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&nextAction=lnk&base=MEDLINE_1966-1995&exprSearch=1522235&indexSearch=UI&lang=i (237 words)

	[No title] (Site not responding. Last check: 2007-10-12)
		The enzyme 5-alpha reductase is deficient, therefore, it cannot carry out its task of converting testosterone into dihydrotestosterone (DHT) which is necessary for complete masculinization of a male fetus.
		A 5-alpha-reductase deficiency is inherited by an autosomal recessive gene, which means that each parent carries one copy of the gene, and transmits it to the child.
		causes females to be masculinized due to a deficiency of the enzyme 21-hydroxylase.
	www.ecommunity.com /health/index.aspx?pageid=P03079 (1157 words)

	CancerNetwork:
		In this study, side effects with finasteride were minimal, with erectile dysfunction, decreased libido, and decreased ejaculatory volume noted in 5%, 6%, and 4.4% of patients receiving finasteride, compared with 1.7%, 1.3%, and 1.7% of patients who received placebo.
		Data from children and adults with 5-alpha-reductase deficiency and biopsy data in those with an increased PSA in the PLESS trial provide an initial suggestion that hormonal manipulation with 5-alpha-reductase inhibitors may reduce the risk of subsequent prostate cancer as men age.
		To achieve a 90% power to detect a 25% reduction in prostate cancer prevalence with a two-sided alpha level of.05, it was determined that 18,000 men were required in a phase III study.
	www.cancernetwork.com /journals/primary/p9909b.htm (2315 words)

	Related Conditions (Site not responding. Last check: 2007-10-12)
		So our advice to the family would be to ask their consultant what to expect at puberty but not to focus on this too much at this stage and to use the years until then to educate themselves fully regarding the psycho-social aspects.
		Some of these enzymes, such as 17-ketosteroid reductase, 17-alpha-hydroxylase, 3-beta-hydroxysteroid dehydrogenase, 17-beta-hydroxysteroid dehydrogenase etc, are important for the development of both female and male reproductive organs, and may also be important for the development of the adrenal gland.
		5-alpha reductase deficiency, unlike AIS, involves a defect on an autosome (not on a sex chromosome) and requires two mutated genes, one from the father and one from the mother.
	www.medhelp.org /www/ais/24_RELATED.HTM (4172 words)

	Male Pseudohermaphroditism Due To 5-alpha-reductase 2 Deficiency
		deficiency Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to androgen insensitivity Male...
		Male pseudohermaphroditism due to 5 alpha-reductase-2 deficiency in an Arab kindred...
		1999 Male pseudohermaphroditism due to mutations in the 5 -steroid reductase type 2 gene in a Mexican family: a molecular analysis.
	www.medicality.org.uk /diseases/male-pseudohermaphroditism-due-to-5-alpha-reductase-2-deficiency.php (277 words)

	A
		Like 5-alpha-reductase deficiency, androgen receptor deficiency is a genetically-linked expression of abnormal androgen (male sex hormone) activity.
		A condition in which the blood is deficient in red blood cells, in hemoglobin, or in total volume.
		Antibiotics frequently are prescribed to eliminate infections that could impair fertility, such as infections of the urinary tract and prostate.
	www.drrajmd.com /gloss2.htm (1986 words)

	Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin -- ...
		Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultra-structure of the testes, and evidence for inherited enzyme heterogeneity.
		Characterization of the testicular abnormality in 5 alpha-reductase deficiency.
		Mazen I, Gad YZ, Hafez M, Sultan C, Lumbroso S. Molecular analysis of 5 alpha-reductase type 2 gene in eight unrelated Egyptian children with suspected 5 alpha-reductase deficiency: prevalence of the G34R mutation.
	www.andrologyjournal.org /cgi/content/full/25/3/412 (2589 words)

	Pituitary-gonadal axis in male undermasculinisation -- Ng et al. 82 (1): 54 -- Archives of Disease in Childhood
		deficiency was confirmed by analysis of urinary steroids or detection
		Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with 5 alpha-reductase deficiency.
		Diminished 5 alpha-reductase activity in extracts of fibroblasts cultured from normal subjects and patients with familial incomplete male pseudohermaphroditism type 2.
	adc.bmj.com /cgi/content/full/82/1/54 (2442 words)

	5-alpha reductase deficiency - General Practice Notebook
		This is an autosomal recessive form of partial male pseudohermaphroditism where there is a deficiency of the type 2 form of the enzyme 5 alpha-reductase.
		5 alpha-reductase catalyses the conversion of testosterone to dihydrotestosterone, a reaction that is essential for the virilization of the male embryo and for subsequent growth of tissues such as the prostate.
		Third Party Rights Oxbridge Solutions Limited, its officers, directors, employees, authors, partners, and advertisers may use the provisions of paragraph 4 and 5 on their own behalf.
	www.gpnotebook.co.uk /simplepage.cfm?ID=852492298 (827 words)

	:: CloneMyHair.com :: News in HairLoss Treatment ::
		The deficiency reduces levels of DHT and spares sensitive hair follicles.
		On the other hand, the genes controlling 5-alpha reductase activity and DHT production are not the only factor involved in balding.
		Another interesting finding of this study was that baldness did not follow a simple genetic inheritance pattern which suggests that multiple genes and or environmental factors control hair loss.
	www.clonemyhair.com /cgi-bin/biobook/viewnews.cgi?newsid990739635,23285, (333 words)

	Ambiguous Genitalia - Children's Hospital of Philadelphia
		Androgen insensitivity syndrome is inherited by a gene on the X chromosome, and the inheritance is therefore described as "X-linked recessive." Mothers who carry the gene have a 50/50 chance of having a son with androgen insensitivity syndrome, while their daughters have a 50/50 chance of being carriers of the gene.
		A 5-alpha-reductase deficiency is inherited via an autosomal recessive gene, which means that each parent carried one copy of the gene, and transmitted it to the child.
		Autosomal recessive means that each parent carried one copy of the gene, and transmits the gene at the same time to the child.
	www.chop.edu /consumer/your_child/condition_section_index.jsp?id=-9176 (1230 words)

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