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Aromatase Deficiency
Aromatase deficiency is an exceedingly 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 CPY19 (P450arom) which can lead to delayed puberty in females, osteoporosis in males and virilization in pregnant mothers. As of 2016, only 35 cases have been described in medical literature. 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 FSH will both be elevated and patients present with polycystic ovaries. Furthermore, the low oestrogen will predispose ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocrinology
Endocrinology (from '' endocrine'' + '' -ology'') is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones. It is also concerned with the integration of developmental events proliferation, growth, and differentiation, and the psychological or behavioral activities of metabolism, growth and development, tissue function, sleep, digestion, respiration, excretion, mood, stress, lactation, movement, reproduction, and sensory perception caused by hormones. Specializations include behavioral endocrinology and comparative endocrinology. The endocrine system consists of several glands, all in different parts of the body, that secrete hormones directly into the blood rather than into a duct system. Therefore, endocrine glands are regarded as ductless glands. Hormones have many different functions and modes of action; one hormone may have several effects on different target organs, and, conversely, one target orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. As compensation and the lack of negative feedback, gonadotropin levels are elevated. Individuals with HH have an intact and functioning hypothalamus and pituitary glands (of the hypothalamic-pituitary-gonadal (HPA) axis) so they are still able to produce FSH and LH. HH may present as either ''congenital'' or ''acquired'', but the majority of cases are of the former nature. HH can be treated with hormone replacement therapy. Signs and symptoms Symptoms can vary greatly depending on the stage of life, biological sex, and etiology. Males During birth and early infancy, HH in males can present as normal male phenotype with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biosynthesis
Biosynthesis is a multi-step, enzyme-catalyzed process where substrates are converted into more complex products in living organisms. In biosynthesis, simple compounds are modified, converted into other compounds, or joined to form macromolecules. This process often consists of metabolic pathways. Some of these biosynthetic pathways are located within a single cellular organelle, while others involve enzymes that are located within multiple cellular organelles. Examples of these biosynthetic pathways include the production of lipid membrane components and nucleotides. Biosynthesis is usually synonymous with anabolism. The prerequisite elements for biosynthesis include: precursor compounds, chemical energy (e.g. ATP), and catalytic enzymes which may require coenzymes (e.g.NADH, NADPH). These elements create monomers, the building blocks for macromolecules. Some important biological macromolecules include: proteins, which are composed of amino acid monomers joined via peptide bon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chemical Intermediate
In chemistry, a reaction intermediate or an intermediate is a molecular entity that is formed from the reactants (or preceding intermediates) but is consumed in further reactions in stepwise chemical reactions that contain multiple elementary steps. Intermediates are the reaction product of one elementary step, but do not appear in the chemical equation for an overall chemical equation. For example, consider this hypothetical stepwise reaction: :A + B -> C + D The reaction includes two elementary steps: :A + B -> X :X -> C + D In this example, X is a reaction intermediate. IUPAC definition The IUPAC Gold Book defines an ''intermediate'' as a compound that has a lifetime greater than a molecular vibration that is formed (directly or indirectly) from the reactants and reacts further to give (either directly or indirectly) the products of a chemical reaction. The lifetime condition distinguishes true, chemically distinct intermediates from vibrational states or such transition s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Placenta
The placenta is a temporary embryonic and later fetal organ that begins developing from the blastocyst shortly after implantation. It plays critical roles in facilitating nutrient, gas and waste exchange between the physically separate maternal and fetal circulations, and is an important endocrine organ, producing hormones that regulate both maternal and fetal physiology during pregnancy. The placenta connects to the fetus via the umbilical cord, and on the opposite aspect to the maternal uterus in a species-dependent manner. In humans, a thin layer of maternal decidual (endometrial) tissue comes away with the placenta when it is expelled from the uterus following birth (sometimes incorrectly referred to as the 'maternal part' of the placenta). Placentas are a defining characteristic of placental mammals, but are also found in marsupials and some non-mammals with varying levels of development. Mammalian placentas probably first evolved about 150 million to 200 million years ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testosterone
Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of androgenic hair, body hair. In addition, testosterone in both sexes is involved in health and well-being, including moods, behaviour, and in the prevention of osteoporosis. Insufficient levels of testosterone in men may lead to abnormalities including frailty and bone loss. Testosterone is a steroid from the androstane class containing a ketone and a hydroxyl group at positions three and seventeen respectively. It is Biosynthesis, biosynthesized in several steps from cholesterol and is converted in the liver to inactive metabolites. It exerts its action through binding to and activation of the androgen receptor. In humans and most other vertebrates, testost ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Androstenedione
Androstenedione, or 4-androstenedione (abbreviated as A4 or Δ4-dione), also known as androst-4-ene-3,17-dione, is an endogenous weak androgen steroid hormone and intermediate in the biosynthesis of estrone and of testosterone from dehydroepiandrosterone (DHEA). It is closely related to androstenediol (androst-5-ene-3β,17β-diol). Biological function Androstenedione is a precursor of testosterone and other androgens, as well as of estrogens like estrone, in the body. In addition to functioning as an endogenous prohormone, androstenedione also has weak androgenic activity in its own right. Androstenedione has been found to possess some estrogenic activity, similarly to other DHEA metabolites. However, in contrast to androstenediol, its affinity for the estrogen receptors is very low, with less than 0.01% of the affinity of estradiol for both the ERα and ERβ. Adrenarche In children aged 6 to 8 years old, there is a rise in androstenedione secretion along with DHEA during adr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Female Protective Effect
Female ( symbol: ♀) is the sex of an organism that produces the large non-motile ova (egg cells), the type of gamete (sex cell) that fuses with the male gamete during sexual reproduction. A female has larger gametes than a male. Females and males are results of the anisogamous reproduction system, wherein gametes are of different sizes, unlike isogamy where they are the same size. The exact mechanism of female gamete evolution remains unknown. In species that have males and females, sex-determination may be based on either sex chromosomes, or environmental conditions. Most female mammals, including female humans, have two X chromosomes. Female characteristics vary between different species with some species having pronounced secondary female sex characteristics, such as the presence of pronounced mammary glands in mammals. In humans, the word ''female'' can also be used to refer to gender in the social sense of gender role or gender identity. Etymology and usage T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RORA , a gene / protein
{{Disambiguation, geo ...
Rora may refer to: * Rora (name) *Rora, a village administered by the city of Sighișoara, Mureș County, Romania *Rora, Aberdeenshire, a rural settlement in Aberdeenshire, Scotland *Rora, a diminutive of the Russian feminine first name Avrora (a form of Aurora) * Rorà, a municipality in Piedmont, Italy * Røra, a village in Nord-Trøndelag County, Norway *RORA, RAR-related orphan receptor alpha RAR-related orphan receptor alpha (RORα), also known as NR1F1 (nuclear receptor subfamily 1, group F, member 1) is a nuclear receptor that in humans is encoded by the ''RORA'' gene. RORα participates in the transcriptional regulation of some g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historically ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hirsutism
Hirsutism is excessive body hair on parts of the body where hair is normally absent or minimal. The word is from early 17th century: from Latin ''hirsutus'' meaning "hairy". It usually refers to a "male" pattern of hair growth in a female that may be a sign of a more serious medical condition, especially if it develops well after puberty. Cultural stigma against hirsutism can cause much psychological distress and social difficulty. Discrimination based on facial hirsutism often leads to the avoidance of social situations and to symptoms of anxiety and depression. Hirsutism is usually the result of an underlying endocrine imbalance, which may be adrenal, ovarian, or central. It can be caused by increased levels of androgen hormones. The amount and location of the hair is measured by a Ferriman-Gallwey score. It is different from hypertrichosis, which is excessive hair growth anywhere on the body. Treatments may include certain birth control pills, antiandrogens, or insulin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cliteromegaly
Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though deliberately induced clitoris enlargement as a form of genital body modification is achieved through various uses of anabolic steroids, including testosterone. Clitoromegaly is not the same as normal enlargement of the clitoris seen during sexual arousal. Presentation The different grade of genital ambiguity is commonly measured by the Prader classification, which ranges, in ascending order of masculinisation, from 1: ''female external genitalia with clitoromegaly'' through 5: ''pseudo-phallus looking like normal male external genitalia''. Causes Clitoromegaly is a rare condition and can be either present by birth or acquired later in life. If present at birth, congenital adrenal hyperplasia can be one of the causes, since in this condition the adrenal gland of the female fetus produces additional androgens and the newborn baby has ambiguous genitalia whic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
