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Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia (CAH), and CAH in most contexts refers to 21-hydroxylase deficiency and different mutations related to enzyme impairment have been mapped on protein structure. Presentation Severe, early onset 21-hydroxylase deficient CAH The two most serious neonatal consequences of 21-hydroxylase deficiency occur: life-threatening salt-wasting crises in the first month of life (for male and female infants alike) and severe virilization of female infants. The subdivision of the early onset CAH into salt-wasting and simple-virilizing forms, which is based on the capacity of the adrenal to produce small amounts of aldosterone in the simple-virilizing form, is often not clinically meaningful, because clinical presentations overlap and all patients lose salt to some degree. Salt-wasting crises in infancy The excessive amounts of adrenal testo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
21-hydroxylase
Steroid 21-hydroxylase (also known as steroid 21-monooxygenase, cytochrome P450C21, 21α-hydroxylase and less commonly 21β-hydroxylase) is an enzyme that hydroxylates steroids at the C21 position and is involved in biosynthesis of aldosterone and cortisol. The enzyme converts progesterone and 17α-hydroxyprogesterone into 11-deoxycorticosterone and 11-deoxycortisol, respectively, within metabolic pathways that ultimately lead to aldosterone and cortisol. Deficiency in the enzyme may cause congenital adrenal hyperplasia. Steroid 21-hydroxylase is a member of the cytochrome P450 family of monooxygenase enzymes that uses an iron containing heme cofactor to oxidize substrates. The enzyme is localized in endoplasmic reticulum membranes of adrenal cortex, and is encoded by the gene in humans, which is located near the ''CYP21A1P'' pseudogene with high degree of sequence similarity. This similarity makes it difficult to analyze the gene at the molecular level, and sometimes leads t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
11-deoxycortisol
11-Deoxycortisol, also known as cortodoxone (INN), cortexolone as well as 17α,21-dihydroxyprogesterone or 17α,21-dihydroxypregn-4-ene-3,20-dione, is an endogenous glucocorticoid steroid hormone, and a metabolic intermediate towards cortisol. It was first described by Tadeusz Reichstein in 1938 as Substance S, thus has also been referred to as Reichstein's Substance S or Compound S. Function 11-Deoxycortisol acts as a glucocorticoid, though is less potent than cortisol. 11-Deoxycortisol is synthesized from 17α-hydroxyprogesterone by 21-hydroxylase and is converted to cortisol by 11β-hydroxylase. 11-Deoxycortisol in mammals has limited biological activity and mainly acts as metabolic intermediate within the glucocorticoid pathway, leading to cortisol. In sea lamprey, a member of the agnathans that evolved more than 500 million years ago, 11-deoxycortisol is the major and final glucocorticoid, with mineralocorticoid activity. 11-deoxycortisol also takes part, by binding to spec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vagina
In mammals, the vagina is the elastic, muscular part of the female genital tract. In humans, it extends from the vestibule to the cervix. The outer vaginal opening is normally partly covered by a thin layer of mucosal tissue called the hymen. At the deep end, the cervix (neck of the uterus) bulges into the vagina. The vagina allows for sexual intercourse and birth. It also channels menstrual flow, which occurs in humans and closely related primates as part of the menstrual cycle. Although research on the vagina is especially lacking for different animals, its location, structure and size are documented as varying among species. Female mammals usually have two external openings in the vulva; these are the urethral opening for the urinary tract and the vaginal opening for the genital tract. This is different from male mammals, who usually have a single urethral opening for both urination and reproduction. The vaginal opening is much larger than the nearby urethral openi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fallopian Tube
The fallopian tubes, also known as uterine tubes, oviducts or salpinges (singular salpinx), are paired tubes in the human female that stretch from the uterus to the ovaries. The fallopian tubes are part of the female reproductive system. In other mammals they are only called oviducts. Each tube is a muscular hollow organ that is on average between 10 and 14 cm in length, with an external diameter of 1 cm. It has four described parts: the intramural part, isthmus, ampulla, and infundibulum with associated fimbriae. Each tube has two openings a proximal opening nearest and opening to the uterus, and a distal opening furthest and opening to the abdomen. The fallopian tubes are held in place by the mesosalpinx, a part of the broad ligament mesentery that wraps around the tubes. Another part of the broad ligament, the mesovarium suspends the ovaries in place. An egg cell is transported from an ovary to a fallopian tube where it may be fertilized in the ampulla of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uterus
The uterus (from Latin ''uterus'', plural ''uteri'') or womb () is the organ in the reproductive system of most female mammals, including humans that accommodates the embryonic and fetal development of one or more embryos until birth. The uterus is a hormone-responsive sex organ that contains glands in its lining that secrete uterine milk for embryonic nourishment. In the human, the lower end of the uterus, is a narrow part known as the isthmus that connects to the cervix, leading to the vagina. The upper end, the body of the uterus, is connected to the fallopian tubes, at the uterine horns, and the rounded part above the openings to the fallopian tubes is the fundus. The connection of the uterine cavity with a fallopian tube is called the uterotubal junction. The fertilized egg is carried to the uterus along the fallopian tube. It will have divided on its journey to form a blastocyst that will implant itself into the lining of the uterus – the endometrium, w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ovary
The ovary is an organ in the female reproductive system that produces an ovum. When released, this travels down the fallopian tube into the uterus, where it may become fertilized by a sperm. There is an ovary () found on each side of the body. The ovaries also secrete hormones that play a role in the menstrual cycle and fertility. The ovary progresses through many stages beginning in the prenatal period through menopause. It is also an endocrine gland because of the various hormones that it secretes. Structure The ovaries are considered the female gonads. Each ovary is whitish in color and located alongside the lateral wall of the uterus in a region called the ovarian fossa. The ovarian fossa is the region that is bounded by the external iliac artery and in front of the ureter and the internal iliac artery. This area is about 4 cm x 3 cm x 2 cm in size.Daftary, Shirish; Chakravarti, Sudip (2011). Manual of Obstetrics, 3rd Edition. Elsevier. pp. 1-16. . The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ambiguous Genitalia
Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies". Sex assignment at birth usually aligns with a child's anatomical sex and phenotype. The number of births with ambiguous genitals is in the range of 1:2000–1:4500 (0.022%–0.05%). Other conditions involve atypical chromosomes, gonads, or hormones. Some persons may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex. The number of births where the baby is intersex has been reported differently depending on who reports and which definition of intersex is used. Anne Fausto-Sterling and her co-authors suggest that the prevalence of "nondimorphic sexual development" might be as high as 1.7%. A study publis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens. Virilization is most commonly used in three medical and biology of sex contexts: prenatal biological sexual differentiation, the postnatal changes of typical chromosomal male (46, XY) puberty, and excessive androgen effects in typical chromosomal females (46, XX). It is also the intended result of androgen replacement therapy in males with delayed puberty and low testosterone. Prenatal virilization In the prenatal period, virilization refers to closure of the perineum, thinning and wrinkling (rugation) of the scrotum, growth of the penis, and closure of the urethral groove to the tip of the penis. In this context, ''masculinization'' is synonymous with ''virilization.'' Prenatal virilization of genetic females and undervirilization of genetic males are common causes of ambiguous genitalia and inte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aromatase
Aromatase (), also called estrogen synthetase or estrogen synthase, is an enzyme responsible for a key step in the biosynthesis of estrogens. It is CYP19A1, a member of the cytochrome P450 superfamily, which are monooxygenases that catalyze many reactions involved in steroidogenesis. In particular, aromatase is responsible for the aromatization of androgens into estrogens. The enzyme aromatase can be found in many tissues including gonads ( granulosa cells), brain, adipose tissue, placenta, blood vessels, skin, and bone, as well as in tissue of endometriosis, uterine fibroids, breast cancer, and endometrial cancer. It is an important factor in sexual development. Function Aromatase is localized in the endoplasmic reticulum where it is regulated by tissue-specific promoters that are in turn controlled by hormones, cytokines, and other factors. It catalyzes the last steps of estrogen biosynthesis from androgens (specifically, it transforms androstenedione to estrone and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Estrogens
Estrogen or oestrogen is a category of sex hormone responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens that have estrogenic hormonal activity: estrone (E1), estradiol (E2), and estriol (E3). Estradiol, an estrane, is the most potent and prevalent. Another estrogen called estetrol (E4) is produced only during pregnancy. Estrogens are synthesized in all vertebrates and some insects. Their presence in both vertebrates and insects suggests that estrogenic sex hormones have an ancient evolutionary history. Quantitatively, estrogens circulate at lower levels than androgens in both men and women. While estrogen levels are significantly lower in males than in females, estrogens nevertheless have important physiological roles in males. Like all steroid hormones, estrogens readily diffuse across the cell membrane. Once inside the cell, they bind to and activate estrogen recep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
5α-dihydrotestosterone
Dihydrotestosterone (DHT, 5α-dihydrotestosterone, 5α-DHT, androstanolone or stanolone) is an endogenous androgen sex steroid and hormone. 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. 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 androstanolone article. Biological function DHT is biologically important for sexual differentiation of the male genitalia during embryogenesis, maturation of the penis and scrotum at puberty, growth of facial, body, and pubic hair, and development and maintenance of the prostate g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
