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Androgen Insensitivity Syndrome
Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. This unresponsiveness can impair or prevent the development of male genitals, as well as impairing or preventing the development of male secondary sexual characteristics at puberty. It does not significantly impair female genital or sexual development. The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a typical male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome. AIS is divided into three categories that ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Androgen Receptor
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone in the cytoplasm and then translocating into the nucleus. The androgen receptor is most closely related to the progesterone receptor, and progestins in higher dosages can block the androgen receptor. The main function of the androgen receptor is as a DNA-binding transcription factor that regulates gene expression; however, the androgen receptor has other functions as well. Androgen-regulated genes are critical for the development and maintenance of the male sexual phenotype. Function Effect on development In some cell types, testosterone interacts directly with androgen receptors, whereas, in others, testosterone is converted by 5-alpha-reductase to dihydrotestosterone, an even more potent agonist for androgen receptor activatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Partial Androgen Insensitivity Syndrome
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. It is an X linked recessive condition. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in individuals with a Y chromosome (or more specifically, an SRY gene). Clinical features include ambiguous genitalia at birth and primary amenhorrhoea with clitoromegaly with inguinal masses. Mullerian structures are not present in the individual. PAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anatomical Terms Of Location
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position provides a definition of what is at the front ("anterior"), behind ("posterior") and so on. As part of defining and describing terms, the body is described through the use of anatomical planes and anatomical axes. The meaning of terms that are used can change depending on whether an organism is bipedal or quadrupedal. Additionally, for some animals such as invertebrates, some terms may not have any meaning at all; for example, an animal that is radially symmetrical will have no anterior surface, but can still have a description that a part is close to the middle ("proximal") or further from the middle ("distal"). International organisations have determined vocabularies that are often used as standard vocabularies for subdisciplines of ana ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Functional Domains Of The Human Androgen Receptor
Functional may refer to: * Movements in architecture: ** Functionalism (architecture) ** Form follows function * Functional group, combination of atoms within molecules * Medical conditions without currently visible organic basis: ** Functional symptom ** Functional disorder * Functional classification for roads * Functional organization * Functional training In mathematics * Functional (mathematics), a term applied to certain scalar-valued functions in mathematics and computer science ** Functional analysis ** Linear functional, a type of functional often simply called a functional in the context of functional analysis * Higher-order function, also called a functional, a function that takes other functions as arguments In computer science, software engineering * (C++), a header file in the C++ Standard Library * Functional design, a paradigm used to simplify the design of hardware and software devices * Functional model, a structured representation of functions, activit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychotherapy
Psychotherapy (also psychological therapy, talk therapy, or talking therapy) is the use of psychological methods, particularly when based on regular personal interaction, to help a person change behavior, increase happiness, and overcome problems. Psychotherapy aims to improve an individual's well-being and mental health, to resolve or mitigate troublesome behaviors, beliefs, compulsions, thoughts, or emotions, and to improve relationships and social skills. Numerous types of psychotherapy have been designed either for individual adults, families, or children and adolescents. Certain types of psychotherapy are considered evidence-based for treating some diagnosed mental disorders; other types have been criticized as pseudoscience. There are hundreds of psychotherapy techniques, some being minor variations; others are based on very different conceptions of psychology. Most involve one-to-one sessions, between the client and therapist, but some are conducted with groups, inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Counseling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Althou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hormone Replacement Therapy (menopause)
Hormone replacement therapy (HRT), also known as menopausal hormone therapy or postmenopausal hormone therapy, is a form of hormone therapy used to treat symptoms associated with female menopause. These symptoms can include hot flashes, vaginal atrophy, accelerated skin aging, vaginal dryness, decreased muscle mass, sexual dysfunction, and bone loss or osteoporosis. They are in large part related to the diminished levels of sex hormones that occur during menopause. Estrogens and progestogens are the main hormone drugs used in HRT. Progesterone is the main female sex hormone that occurs naturally and is also manufactured into a drug that is used in menopausal hormone therapy. Although both classes of hormones can have symptomatic benefit, progestogen is specifically added to estrogen regimens, unless the uterus has been removed, to avoid the increased risk of endometrial cancer. Unopposed estrogen therapy promotes endometrial hyperplasia and increases the risk of cancer, whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germ Cell Tumor
Germ cell tumor (GCT) is a neoplasm derived from germ cells. Germ-cell tumors can be cancerous or benign. Germ cells normally occur inside the gonads ( ovary and testis). GCTs that originate outside the gonads may be birth defects resulting from errors during development of the embryo. Classification GCTs are classified by their histology, regardless of location in the body. However, as more information about the genetics of these tumors become available, they may be classified based on specific gene mutations that characterize specific tumors. They are broadly divided in two classes: * The germinomatous or seminomatous germ-cell tumors (GGCT, SGCT) include only germinoma and its synonyms dysgerminoma and seminoma. * The nongerminomatous or nonseminomatous germ-cell tumors (NGGCT, NSGCT) include all other germ-cell tumors, pure and mixed. The two classes reflect an important clinical difference. Compared with germinomatous tumors, nongerminomatous tumors tend to grow faster ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadectomy
Castration is any action, surgical, chemical, or otherwise, by which an individual loses use of the testicles: the male gonad. Surgical castration is bilateral orchiectomy (excision of both testicles), while chemical castration uses pharmaceutical drugs to deactivate the testes. Castration causes sterilization (preventing the castrated person or animal from reproducing); it also greatly reduces the production of hormones, such as testosterone and estrogen. Surgical castration in animals is often called neutering. The term ''castration'' is sometimes also used to refer to the removal of the ovaries in the female, otherwise known as an oophorectomy, or the removal of internal testes, otherwise known as gonadectomy. The equivalent of castration for female animals is spaying. Estrogen levels drop following oophorectomy, and long-term effects of the reduction of sex hormones are significant throughout the body. Castration of animals is intended to favor a desired development of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genitoplasty
Genitoplasty is plastic surgery to the genitals. Genitoplasties may be reconstructive to repair injuries, and damage arising from cancer treatment, or congenital disorders, endocrine conditions, or they may be cosmetic. __TOC__ Medical uses Genitoplasty surgery includes the following: * Vaginoplasty * Correction of congenital conditions ** congenital adrenal hyperplasia ** microphallus repair ** hypospadias repair ** pseudovaginal perineoscrotal hypospadias repair ** androgen insensitivity syndrome repair ** repair of a urethra that is short * labiaplasty * vaginal construction * vaginal reconstruction * repair of vaginal vault prolapse * vaginal suspension and fixation * operations on cul-de-sac * repair of cystocele * repair of rectocele * genital prolapse * retropubic paravaginal repair * hymenorrhaphy The grafts used in genitalplasty can be an allogenic, an autograft, a xenograft, or an autologous material. Genital reconstruction surgery can correct prolapse of the ur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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