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Inborn Errors Of Steroid Metabolism
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism. Types A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include: Generalized * 20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol * 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females * Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess * Cytochrome P450 oxidoreductase deficiency: prevents production of numerous but not all sex steroids, as well as other metabolic reactions Androgen- and estrogen-specific * Isolated 17,20-ly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Error Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrate (biochemistry), substrates) into others (Product (chemistry), products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of Biochemical Processes, biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sex Steroid
Sex hormones, also known as sex steroids, gonadocorticoids and gonadal steroids, are steroid hormones that interact with vertebrate steroid hormone receptors. The sex hormones include the androgens, estrogens, and progestogens. Their effects are mediated by slow genomic mechanisms through nuclear receptors as well as by fast nongenomic mechanisms through membrane-associated receptors and signaling cascades. Certain polypeptide hormones including the luteinizing hormone, follicle-stimulating hormone, and gonadotropin-releasing hormone – each associated with the gonadotropin axis – are usually not regarded as sex hormones, although they play major sex-related roles. Production Natural sex hormones are made by the gonads (ovaries or testicles), by adrenal glands, or by conversion from other sex steroids in other tissue such as liver or fat. Image:Steroidogenesis.svg Image:Biosinthesis of steroid hormones (simplified version).jpg Image:Biosinthesis of steroid hormones ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Adrenal Hyperplasia Due To 11β-hydroxylase Deficiency
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex. Presentation Mineralocorticoid effects Mineralocorticoid manifestations of severe 11β-hydroxylase deficient CAH can be biphasic, changing from deficiency (salt-wasting) in early infancy to excess (hypertension) in childhood and adult life. Salt-wasting in early infancy does not occur in most cases of 11β-OH CAH but can occur because of impaired production of aldosterone aggravated by the inefficiency of salt conservation in early in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. It is classified as an inherited metabolic disorder. CAH is an autosomal recessive condition since it results from inheriting two copies of the faulty '' CYP21A2'' gene responsible for 21-hydroxylase enzyme deficiency. The most common forms of CAH are: ''classical'' form, usually diagnosed at birth, and ''nonclassical'', late onset form, typically diagnosed during childhood or adolescence, although it can also be identified in adulthood when seeking medical help for fertility concerns or other related issues, such as PCOS or menstrual irregularities. Carriers for the alleles of the nonclassical forms may have no symptoms, such form of CAH is sometimes called ''cryptic'' form. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of conge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aromatase Excess Syndrome
Aromatase excess syndrome (AES or AEXS) is a rarely diagnosed genetic disorder, genetic and endocrine disease, endocrine syndrome which is characterized by an gene expression, overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism. It affects both sexes, manifesting itself in males as marked or complete phenotype, phenotypical feminization (biology), feminization (with the exception of the genitalia; i.e., no ambiguous genitalia) and in females as hyperfeminization. To date, 30 males and 8 females with AEXS among 15 and 7 families, respectively, have been described in the medical literature. Signs and symptoms Observed physiological abnormalities of the condition include a dramatic overexpression of aromatase and, accordingly, excessive levels of estrogens including estrone and estradiol and a very high rat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aromatase Deficiency
Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization in pregnant mothers. , fewer than 15 cases have been identified in genetically male individuals and at least 30 cases in genetically female individuals. Signs and symptoms The deficiency causes the virilization of XX fetuses. The onset of symptoms usually occurs in adolescence or early adulthood. The lack of estrogen results in the presentation of primary amenorrhea and tall stature. The taller than expected height occurs because estrogen normally causes fusion of the epiphyseal growth plates in the bones, and in its absence, the patient will keep growing longer. The gonadotropins LH and FS ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dihydrotestosterone
Dihydrotestosterone (DHT, 5α-dihydrotestosterone, 5α-DHT, androstanolone or stanolone) is an endogenous androgen sex steroid and hormone primarily involved in the growth and repair of the prostate and the penis, as well as the production of sebum and body hair composition. The enzyme 5α-reductase catalyzes the formation of DHT from testosterone in certain tissues including the prostate gland, seminal vesicles, epididymides, skin, hair follicles, liver, and brain. This enzyme mediates reduction of the C4-5 double bond of testosterone. DHT may also be synthesized from progesterone and 17α-hydroxyprogesterone via the androgen backdoor pathway in the absence of testosterone. Relative to testosterone, DHT is considerably more potent as an agonist of the androgen receptor (AR). In addition to its role as a natural hormone, DHT has been used as a medication, for instance in the treatment of low testosterone levels in men; for information on DHT as a medication, see the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testosterone
Testosterone is the primary male sex hormone and androgen in Male, males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testicles and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of androgenic hair, body hair. It is associated with increased aggression, sex drive, Dominance hierarchy, dominance, courtship display, and a wide range of behavioral characteristics. In addition, testosterone in both sexes is involved in health and well-being, where it has a significant effect on overall mood, cognition, social and sexual behavior, metabolism and energy output, the cardiovascular system, and in the prevention of osteoporosis. Insufficient levels of testosterone in men may lead to abnormalities including frailty, accumulation of adipose fat tissue within the body, anxiety and depression, sexual performance issues, and bone loss. Excessiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
5α-Reductase 2 Deficiency
5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by mutations impairing the function of ''SRD5A2'', a gene located on chromosome 2 and encoding the enzyme 5α-reductase type 2 (5αR2). 5αR2 is expressed in specific tissues and catalyzes the transformation of testosterone (T) to 5α-dihydrotestosterone (DHT). DHT plays a key role in the process of sexual differentiation. This rare deficiency causes atypical sex development in genetic males (people with a 46XY karyotype), with a broad spectrum of presentations most apparent in the genitalia. Many people with 5-alpha reductase deficiency are assigned female at birth based on their external genitalia. In other cases, affected infants are assigned male at birth based on their external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants may be assigned either female or male at birth as their external ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
17β-Hydroxysteroid Dehydrogenase 3 Deficiency
A hydroxysteroid is a molecule derived from a steroid with a hydrogen replaced with a hydroxy group. When the hydroxy group is specifically at the C3 position, hydroxysteroids are referred to as sterols, with an example being cholesterol. See also * Hydroxysteroid dehydrogenase * Ketosteroid class=skin-invert-image, 150px, Androstenedione class=skin-invert-image, 150px, Androsterone class=skin-invert-image, 150px, Estrone A ketosteroid, or an oxosteroid, is a steroid in which a hydrogen atom has been replaced with a ketone (C=O) g ... External links * Alcohols Steroids {{steroid-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methemoglobinemia
Methemoglobinemia, or methaemoglobinaemia, is a condition of elevated methemoglobin in the blood. Symptoms may include headache, dizziness, shortness of breath, nausea, poor muscle coordination, and blue-colored skin (cyanosis). Complications may include seizures and heart arrhythmias. Methemoglobinemia can be due to certain medications, chemicals, or food or it can be inherited. Substances involved may include benzocaine, nitrites, or dapsone. The underlying mechanism involves some of the iron in hemoglobin being converted from the ferrous [Fe2+] to the ferric [Fe3+] form. The diagnosis is often suspected based on symptoms and a Hypoxia (medical), low blood oxygen that does not improve with oxygen therapy. Diagnosis is confirmed by a blood gas. Treatment is generally with oxygen therapy and methylene blue. Other treatments may include vitamin C, exchange transfusion, and hyperbaric oxygen therapy. Outcomes are generally good with treatment. Methemoglobinemia is relatively unc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methemoglobin
Methemoglobin (British: methaemoglobin, shortened MetHb) (pronounced "met-hemoglobin") is a hemoglobin ''in the form of metalloprotein'', in which the iron in the heme group is in the Fe3+ (ferric) state, not the Fe2+ (ferrous) of normal hemoglobin. Sometimes, it is also referred to as ferrihemoglobin. Methemoglobin cannot bind oxygen, which means it cannot carry oxygen to tissues. It is bluish chocolate-brown in color. In human blood a trace amount of methemoglobin is normally produced spontaneously, but when present in excess the blood becomes abnormally dark bluish brown. The NADH-dependent enzyme methemoglobin reductase (diaphorase, a type of diaphorase) is responsible for converting methemoglobin back to hemoglobin. Normally one to two percent of a person's hemoglobin is methemoglobin; a higher percentage than this can be genetic or caused by exposure to various chemicals and depending on the level can cause health problems known as methemoglobinemia. A higher level of methemog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
