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21α-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 congeni ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CYP21A2
Steroid 21-hydroxylase is a protein that in humans is encoded by the ''CYP21A2'' gene. The protein is an enzyme that Hydroxylation, hydroxylates steroids at the C21 position on the molecule. Naming conventions for enzymes are based on the substrate acted upon and the chemical process performed. Biochemically, this enzyme is involved in the biosynthesis of the adrenal gland hormones aldosterone and cortisol, which are important in blood pressure regulation, sodium homeostasis and Blood sugar regulation, blood sugar control. The enzyme converts progesterone and 17α-Hydroxyprogesterone, 17α-hydroxyprogesterone into 11-Deoxycorticosterone, 11-deoxycorticosterone and 11-Deoxycortisol, 11-deoxycortisol, respectively, within metabolic pathways which in humans ultimately lead to aldosterone and cortisol creation—deficiency in the enzyme may cause Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia. Steroid 21-hydroxylase is a member of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vagina
In mammals and other animals, the vagina (: vaginas or vaginae) is the elastic, muscular sex organ, reproductive organ of the female genital tract. In humans, it extends from the vulval vestibule to the cervix (neck of the uterus). The #Vaginal opening and hymen, vaginal introitus is normally partly covered by a thin layer of mucous membrane, mucosal tissue called the hymen. The vagina allows for Copulation (zoology), copulation and birth. It also channels Menstruation (mammal), menstrual flow, which occurs in humans and closely related primates as part of the menstrual cycle. To accommodate smoother penetration of the vagina during sexual intercourse or other sexual activity, vaginal moisture increases during sexual arousal in human females and other female mammals. This increase in moisture provides vaginal lubrication, which reduces friction. The texture of the vaginal walls creates friction for the penis during sexual intercourse and stimulates it toward ejaculation, en ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fallopian Tube
The fallopian tubes, also known as uterine tubes, oviducts or salpinges (: salpinx), are paired tubular sex organs in the human female body that stretch from the Ovary, ovaries to the uterus. The fallopian tubes are part of the female reproductive system. In other vertebrates, they are only called oviducts. Each tube is a muscular hollow organ that is on average between in length, with an external diameter of . It has four described parts: the intramural part, isthmus, ampulla, and infundibulum with associated fimbriae. Each tube has two openings: a proximal opening nearest to the uterus, and a distal opening nearest to the ovary. 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 ovum, egg cell is transported from an ovary to a fallopian tube where it may be human fertilization, fertilized in the ampulla of the tube. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uterus
The uterus (from Latin ''uterus'', : uteri or uteruses) or womb () is the hollow organ, organ in the reproductive system of most female mammals, including humans, that accommodates the embryonic development, embryonic and prenatal development, fetal development of one or more Fertilized egg, fertilized eggs until birth. The uterus is a hormone-responsive sex organ that contains uterine gland, glands in its endometrium, lining that secrete uterine milk for embryonic nourishment. (The term ''uterus'' is also applied to analogous structures in some non-mammalian animals.) In humans, the lower end of the uterus is a narrow part known as the Uterine isthmus, isthmus that connects to the cervix, the anterior gateway leading to the vagina. The upper end, the body of the uterus, is connected to the fallopian tubes at the uterine horns; the rounded part, the fundus, is above the openings to the fallopian tubes. The connection of the uterine cavity with a fallopian tube is called the utero ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anti-Müllerian Hormone
Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting hormone (MIH), is a glycoprotein hormone structurally related to Activin and inhibin, inhibin and activin from the transforming growth factor beta superfamily, whose key roles are in growth differentiation and folliculogenesis. In humans, it is encoded by the gene, on chromosome 19p13.3, while its Receptor (biochemistry), receptor is encoded by the gene on chromosome 12. AMH is activated by SOX9 in the Sertoli cells of the male fetus. Its expression inhibits the development of the female reproductive tract, or Müllerian ducts (paramesonephric ducts), in the male embryo, thereby arresting the development of fallopian tubes, uterus, and upper vagina. ''AMH'' expression is critical to sex differentiation at a specific time during fetal development, and appears to be tightly regulated by nuclear receptor Steroidogenic factor 1, SF-1, GATA transcription factor, transcription GATA factors, sex-reversal gene DAX1, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ovary
The ovary () is a gonad in the female reproductive system that produces ova; when released, an ovum travels through the fallopian tube/ oviduct into the uterus. There is an ovary on the left and the right side of the body. The ovaries are endocrine glands, secreting various hormones that play a role in the menstrual cycle and fertility. The ovary progresses through many stages beginning in the prenatal period through menopause. Structure 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 ovaries are surrounded by a capsule, and have an outer cortex and an inner medulla. The capsule is of dense connect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ambiguous Genitalia
Intersex people are those born with any of several Sexual characteristics, sex characteristics, including chromosome patterns, gonads, or sex organ, 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 external genitalia. The number of births with ambiguous genitals is in the range of 1:4,500–1:2,000 (0.02%–0.05%). Other conditions involve the development of atypical chromosomes, gonads, or hormones. The portion of the population that is intersex has been reported differently depending on which definition of intersex is used and which conditions are included. Estimates range from 0.018% (one in 5,500 births) to 1.7%. The difference centers on whether conditions in which chromosomal sex matches a phenotypic sex which is clearly identifiable as male or female, such as late onset congenital adrenal hyperplasia (1.5 ... [...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 a medical term 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 XX fetuses and undervirilization of XY fetuses are common causes of ambiguous genitalia suc ... [...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 te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Estrogens
Estrogen (also spelled oestrogen in British English; see spelling differences) 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. 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 receptors (ERs) which in turn modulate the expression of many genes. ... [...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 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 andr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
