223 relations: Aarskog–Scott syndrome, Abdominal cavity, Acta Eruditorum, Adrenal gland, Agenesis, Ambroise Paré, Amino acid, Anabolic steroid, Anabolism, Anatomy, Androgen, Androgen receptor, Anorchia, Anti-Müllerian hormone, Antiestrogen, Aromatase deficiency, Aromatization, Barr body, Biosynthesis, Body shape, Bonnie Hart, C-terminus, Case report, Castration, Cell (biology), Cell nucleus, Central nervous system, Cervix, Chemical structure, Chromatin remodeling, Chromosome abnormality, Coactivator (genetics), Complete androgen insensitivity syndrome, Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency, Cortex (anatomy), Cryptorchidism, Cytoplasm, Cytotoxicity, Dazed, Denys–Drash syndrome, Development of the gonads, Differential diagnosis, Dihydrotestosterone, DNA, DNA sequencing, DNA-binding domain, Dysplasia, ..., Edwin Klebs, Egg cell, Embryo, Endocrine system, Endocrinology, Enzyme, Epididymis, Estradiol, Estrogen, Estrogen insensitivity syndrome, Estrogen receptor, Exon, Faking It (U.S. TV series), Fallopian tube, Female body shape, Female reproductive system, Fibroblast, Frameshift mutation, Frasier syndrome, Frederik Ruysch, Gender binary, Gene, Gene expression, Genetic analysis, Genetic code, Genetic counseling, Genetic testing, Genitoplasty, Germ cell, Germ cell tumor, Gestation, Glutamine, Glycine, Gonad, Gonadal ridge, Gynaecology, Hand-foot-genital syndrome, Hanne Gaby Odiele, Heat shock protein, Hepatocellular carcinoma, Heredity, Histology, Histopathology, Hormone response element, House (season 2), House (TV series), Human penis, Hypoplasia, Hypospadias, Incidence (epidemiology), Infertility, Intellectual disability, Interact Advocates for Intersex Youth, Intersex, Intersex Human Rights Australia, Intersex medical interventions, Intron, Isidore Geoffroy Saint-Hilaire, James Young Simpson, Johannes Peter Müller, Kallmann syndrome, Karyotype, Klinefelter syndrome, Koji Suzuki, Lawson Wilkins, Leydig cell, Ligand (biochemistry), Lipoid congenital adrenal hyperplasia, Locus (genetics), Luteinizing hormone, Luteoma, Male breast cancer, Male infertility, Mary F. Lyon, Müllerian agenesis, McKusick–Kaufman syndrome, Mesonephric duct, Meta-analysis, Methyltestosterone, Micropenis, Microsatellite, Mild androgen insensitivity syndrome, Missense mutation, Molecular cloning, Mosaic (genetics), MTV, Mutation, N-terminus, Neoplasm, Neurodegeneration, Nicolas Venette, Nomenclature, Nonsense mutation, Nuclear localization sequence, Nuclear receptor, Nucleic acid sequence, Nucleotide, Orchids, My Intersex Adventure, Paramesonephric duct, Partial androgen insensitivity syndrome, Pathogenesis, Pathology, Phenotype, Phoebe Hart, Physiology, Polyglutamine tract, Popliteal pterygium syndrome, Postmenopausal hormone therapy, Preimplantation genetic diagnosis, Prostate, Prostate cancer, Protein dimer, Protein domain, Protein folding, Protein phosphorylation, Proteolysis, Pseudohermaphroditism, Psychotherapy, Puberty, Quigley scale, Regulation of gene expression, Response element, Ring (Suzuki novel), RNA polymerase II, Robinow syndrome, Sadako Yamamura, Sample size determination, Scrotum, Secondary sex characteristic, Semen analysis, Seminal vesicle, Sertoli cell, Sex assignment, Sex organ, Sexual differentiation, Sexual differentiation in humans, Smith–Lemli–Opitz syndrome, Spermatogenesis, Spinal and bulbar muscular atrophy, Statistical population, Steroidogenic factor 1, Symptomatic treatment, Taxonomy (biology), Terminal hair, Testicular cancer, Testosterone, Testosterone (medication), Transactivation, Transcription (biology), Transcription coregulator, Transcription factor, Translation (biology), Trinucleotide repeat disorder, True hermaphroditism, Turner syndrome, Upstream and downstream (DNA), Urethra, Uterus, Vaginal atresia, Vas deferens, WAGR syndrome, X chromosome, X-linked recessive inheritance, XX gonadal dysgenesis, XY gonadal dysgenesis, Y chromosome, Zinc finger, Zygosity, Zygote, 17β-Hydroxysteroid dehydrogenase III deficiency, 45,X/46,XY mosaicism, 5α-Reductase, 5α-Reductase deficiency. Expand index (173 more) » « Shrink index
Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.
The abdominal cavity is a large body cavity in humans and many other animals that contains many organs.
Acta Eruditorum (Latin for "reports/acts of the scholars") was the first scientific journal of the German lands, published from 1682 to 1782.
The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol.
In medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.
Ambroise Paré (c. 1510 – 20 December 1590) was a French barber surgeon who served in that role for kings Henry II, Francis II, Charles IX and Henry III.
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
Anabolic steroids, also known more properly as anabolic–androgenic steroids (AAS), are steroidal androgens that include natural androgens like testosterone as well as synthetic androgens that are structurally related and have similar effects to testosterone.
Anabolism (from ἁνά, "upward" and βάλλειν, "to throw") is the set of metabolic pathways that construct molecules from smaller units.
Anatomy (Greek anatomē, “dissection”) is the branch of biology concerned with the study of the structure of organisms and their parts.
An androgen (from Greek andr-, the stem of the word meaning "man") is any natural or synthetic steroid hormone which regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors.
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.
Anorchia (also called anorchidism or anorchism) is a disorder of sex development in which a person with XY karyotype, which usually corresponds to male sex, is born without testes.
Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting hormone (MIH), is a glycoprotein hormone structurally related to inhibin and activin from the transforming growth factor beta superfamily, whose key roles are in growth differentiation and folliculogenesis.
Antiestrogens, also known as estrogen antagonists or estrogen blockers, are a class of drugs which prevent estrogens like estradiol from mediating their biological effects in the body.
Aromatase deficiency is a very rare condition characterised by the extremely low or absence of the enzyme aromatase activity in the body.
Aromatization is a chemical reaction in which an aromatic system is formed.
A Barr body (named after discoverer Murray Barr) is the inactive X chromosome in a female somatic cell, rendered inactive in a process called lyonization, in those species in which sex is determined by the presence of the Y (including humans) or W chromosome rather than the diploidy of the X. The Lyon hypothesis states that in cells with multiple X chromosomes, all but one are inactivated during mammalian embryogenesis.
Biosynthesis (also called anabolism) is a multi-step, enzyme-catalyzed process where substrates are converted into more complex products in living organisms.
Human body shape is a complex phenomenon with sophisticated detail and function.
Bonnie Hart is an artist, film maker, and intersex human rights activist, born with androgen insensitivity syndrome and president of the Androgen Insensitivity Syndrome Support Group Australia.
The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein or polypeptide), terminated by a free carboxyl group (-COOH).
In medicine, a case report is a detailed report of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient.
Castration (also known as gonadectomy) is any action, surgical, chemical, or otherwise, by which an individual loses use of the testicles.
The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.
In cell biology, the nucleus (pl. nuclei; from Latin nucleus or nuculeus, meaning kernel or seed) is a membrane-enclosed organelle found in eukaryotic cells.
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
The cervix or cervix uteri (neck of the uterus) is the lower part of the uterus in the human female reproductive system.
A chemical structure determination includes a chemist's specifying the molecular geometry and, when feasible and necessary, the electronic structure of the target molecule or other solid.
Chromatin remodeling is the dynamic modification of chromatin architecture to allow access of condensed genomic DNA to the regulatory transcription machinery proteins, and thereby control gene expression.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
A coactivator is a type of transcriptional coregulator that binds to an activator (a transcription factor) to increase the rate of transcription of a gene or set of genes.
Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens.
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.
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II (HSD3B2).
In anatomy and zoology, the cortex (Latin for bark, rind, shell or husk) is the outermost (or superficial) layer of an organ.
Cryptorchidism is the absence of one or both testes from the scrotum.
In cell biology, the cytoplasm is the material within a living cell, excluding the cell nucleus.
Cytotoxicity is the quality of being toxic to cells.
Dazed (formerly Dazed & Confused) is a bi-monthly British style magazine founded in 1991.
Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.
The development of the gonads is part of the prenatal development of the reproductive system and ultimately forms the testes in males and the ovaries in females.
In medicine, a differential diagnosis is the distinguishing of a particular disease or condition from others that present similar clinical features.
Dihydrotestosterone (DHT), or 5α-dihydrotestosterone (5α-DHT), also known as androstanolone or stanolone, is an endogenous androgen sex steroid and hormone.
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.
A DNA-binding domain (DBD) is an independently folded protein domain that contains at least one structural motif that recognizes double- or single-stranded DNA.
Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).
Theodor Albrecht Edwin Klebs (6 February 1834 – 23 October 1913) was a German-Swiss pathologist.
The egg cell, or ovum (plural ova), is the female reproductive cell (gamete) in oogamous organisms.
An embryo is an early stage of development of a multicellular diploid eukaryotic organism.
The endocrine system is a chemical messenger system consisting of hormones, the group of glands of an organism that carry those hormones directly into the circulatory system to be carried towards distant target organs, and the feedback loops of homeostasis that the hormones drive.
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.
Enzymes are macromolecular biological catalysts.
The epididymis (plural: epididymides or) is a tube that connects a testicle to a vas deferens in the male reproductive system.
Estradiol (E2), also spelled oestradiol, is an estrogen steroid hormone and the major female sex hormone.
Estrogen, or oestrogen, is the primary female sex hormone.
Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism which is caused by a defective estrogen receptor (ER) – specifically, the estrogen receptor alpha (ERα) – that results in an inability of estrogen to mediate its biological effects in the body.
Estrogen receptors (ERs) are a group of proteins found inside cells.
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
Faking It is an American single-camera romantic comedy series that premiered on MTV on April 22, 2014, starring Rita Volk, Katie Stevens, Gregg Sulkin, Michael Willett and Bailey De Young.
The Fallopian tubes, also known as uterine tubes or salpinges (singular salpinx), are two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the uterotubal junction.
Female body shape or female figure is the cumulative product of a woman's skeletal structure and the quantity and distribution of muscle and fat on the body.
The female reproductive system is made up of the internal and external sex organs that function in reproduction of new offspring.
A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, the structural framework (stroma) for animal tissues, and plays a critical role in wound healing.
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three.
Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene.
Frederik Ruysch (March 28, 1638 – February 22, 1731) was a Dutch botanist and anatomist.
The gender binary, also referred to as gender binarism (sometimes shortened to just binarism), is the classification of sex and gender into two distinct, opposite and disconnected forms of masculine and feminine.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.
Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology.
The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or mRNA sequences) into proteins.
Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
Genitoplasty is plastic surgery to the genitals.
A germ cell is any biological cell that gives rise to the gametes of an organism that reproduces sexually.
A germ cell tumor (GCT) is a neoplasm derived from germ cells.
Gestation is the carrying of an embryo or fetus inside viviparous animals.
Glutamine (symbol Gln or Q) is an α-amino acid that is used in the biosynthesis of proteins.
Glycine (symbol Gly or G) is the amino acid that has a single hydrogen atom as its side chain.
A gonad or sex gland or reproductive gland is a mixed gland that produces the gametes (sex cells) and sex hormones of an organism.
In embryology, the gonadal ridge (or urogenital ridge) is the precursor to the gonads.
Gynaecology or gynecology (see spelling differences) is the medical practice dealing with the health of the female reproductive systems (vagina, uterus, and ovaries) and the breasts.
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects.
Hanne Gaby Odiele (born 8 October 1987) is a Belgian model, known for her work with various high-profile fashion-industry clients.
Heat shock proteins (HSP) are a family of proteins that are produced by cells in response to exposure to stressful conditions.
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults, and is the most common cause of death in people with cirrhosis.
Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
Histology, also microanatomy, is the study of the anatomy of cells and tissues of plants and animals using microscopy.
Histopathology (compound of three Greek words: ἱστός histos "tissue", πάθος pathos "suffering", and -λογία -logia "study of") refers to the microscopic examination of tissue in order to study the manifestations of disease.
A hormone response element (HRE) is a short sequence of DNA within the promoter of a gene that is able to bind to a specific hormone receptor complex and therefore regulate transcription.
The second season of House premiered on September 13, 2005 and ended on May 23, 2006.
House (also called House, M.D.) is an American television medical drama that originally ran on the Fox network for eight seasons, from November 16, 2004 to May 21, 2012.
The human penis is an external male intromittent organ that additionally serves as the urinal duct.
Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.
Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.
Incidence in epidemiology is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time.
Infertility is the inability of a person, animal or plant to reproduce by natural means.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
interACT or interACT Advocates for Intersex Youth, formerly known as Advocates for Informed Choice, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children born with intersex traits.
Intersex people are born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones, or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".
Intersex Human Rights Australia (IHRA) is a voluntary organisation for intersex people that promotes the human rights and bodily autonomy of intersex people in Australia, and provides education and information services.
Intersex medical interventions are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more normal and to reduce the likelihood of future problems.
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.
Isidore Geoffroy Saint-Hilaire (16 December 1805 – 10 November 1861) was a French zoologist and an authority on deviation from normal structure.
Sir James Young Simpson, 1st Baronet (7 June 1811 – 6 May 1870) was a Scottish obstetrician and a significant figure in the history of medicine.
Johannes Peter Müller (14 July 1801 – 28 April 1858) was a German physiologist, comparative anatomist, ichthyologist, and herpetologist, known not only for his discoveries but also for his ability to synthesize knowledge.
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty.
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
is a Japanese writer, who was born in Hamamatsu and lives in Tokyo.
Lawson Wilkins was a pioneering pediatric endocrinologist.
Leydig cells, also known as interstitial cells of Leydig, are found adjacent to the seminiferous tubules in the testicle.
In biochemistry and pharmacology, a ligand is a substance that forms a complex with a biomolecule to serve a biological purpose.
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH).
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
Luteinizing hormone (LH, also known as lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior pituitary gland.
A luteoma is a tumor that occurs in the ovaries during pregnancy.
Male breast cancer (male breast neoplasm) is a rare cancer in males that originates from the breast.
Male infertility refers to a male's inability to cause pregnancy in a fertile female.
Mary Frances Lyon (15 May 1925 – 25 December 2014) was an English geneticist, best known for her discovery of X-chromosome inactivation, an important biological phenomenon.
Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) or vaginal agenesis, is a congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion.
McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
The mesonephric duct (also known as the Wolffian duct, archinephric duct, Leydig's duct or nephric duct) is a paired organ found in mammals including humans during embryogenesis.
A meta-analysis is a statistical analysis that combines the results of multiple scientific studies.
Methyltestosterone, sold under the brand names Android, Metandren, and Testred among others, is an androgen and anabolic steroid (AAS) medication which is used in the treatment of low testosterone levels in men, delayed puberty in boys, at low doses as a component of menopausal hormone therapy for menopausal symptoms like hot flashes, osteoporosis, and low sexual desire in women, and to treat breast cancer in women.
Micropenis is an unusually small penis.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1–6 or more base pairs) are repeated, typically 5–50 times.
Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens.
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
Molecular cloning is a set of experimental methods in molecular biology that are used to assemble recombinant DNA molecules and to direct their replication within host organisms.
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
MTV (originally an initialism of Music Television) is an American cable and satellite television channel owned by Viacom Media Networks (a division of Viacom) and headquartered in New York City.
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide referring to the free amine group (-NH2) located at the end of a polypeptide.
Neoplasia is a type of abnormal and excessive growth of tissue.
Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.
Nicolas Venette (1633–1698) was a physician, sexologist and French writer.
Nomenclature is a system of names or terms, or the rules for forming these terms in a particular field of arts or sciences.
In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.
A nuclear localization signal or sequence (NLS) is an amino acid sequence that 'tags' a protein for import into the cell nucleus by nuclear transport.
In the field of molecular biology, nuclear receptors are a class of proteins found within cells that are responsible for sensing steroid and thyroid hormones and certain other molecules.
A nucleic acid sequence is a succession of letters that indicate the order of nucleotides forming alleles within a DNA (using GACT) or RNA (GACU) molecule.
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
Orchids, My Intersex Adventure is an auto-biographicalATOM Award description, Interview with Phoebe Hart, Melbourne, Australia.
Paramesonephric ducts (or Müllerian ducts) are paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the sinus tubercle in the primitive urogenital sinus.
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens.
The pathogenesis of a disease is the biological mechanism (or mechanisms) that leads to the diseased state.
Pathology (from the Ancient Greek roots of pathos (πάθος), meaning "experience" or "suffering" and -logia (-λογία), "study of") is a significant field in modern medical diagnosis and medical research, concerned mainly with the causal study of disease, whether caused by pathogens or non-infectious physiological disorder.
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
Phoebe Hart is a film maker, lecturer and intersex rights activist, born with Androgen Insensitivity Syndrome.
Physiology is the scientific study of normal mechanisms, and their interactions, which work within a living system.
A polyglutamine tract or polyQ tract is a portion of a protein consisting of a sequence of several glutamine units.
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.
Menopausal hormone therapy (MHT), or postmenopausal hormone therapy (PHT, PMHT), also known as hormone replacement therapy in menopause, is a form of hormone replacement therapy (HRT) which is used in postmenopausal, perimenopausal, and surgically menopausal women.
Pre-implantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.
The prostate (from Ancient Greek προστάτης, prostates, literally "one who stands before", "protector", "guardian") is a compound tubuloalveolar exocrine gland of the male reproductive system in most mammals.
Prostate cancer is the development of cancer in the prostate, a gland in the male reproductive system.
In biochemistry, a protein dimer is a macromolecular complex formed by two protein monomers, or single proteins, which are usually non-covalently bound.
A protein domain is a conserved part of a given protein sequence and (tertiary) structure that can evolve, function, and exist independently of the rest of the protein chain.
Protein folding is the physical process by which a protein chain acquires its native 3-dimensional structure, a conformation that is usually biologically functional, in an expeditious and reproducible manner.
Protein phosphorylation is a post-translational modification of proteins in which an amino acid residue is phosphorylated by a protein kinase by the addition of a covalently bound phosphate group.
Proteolysis is the breakdown of proteins into smaller polypeptides or amino acids.
Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary or testis).
Psychotherapy is the use of psychological methods, particularly when based on regular personal interaction, to help a person change behavior and overcome problems in desired ways.
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction.
The Quigley scale is a descriptive, visual system of phenotypic grading that uses seven classes between "fully masculinized" and "fully feminized" genitalia.
Regulation of gene expression includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA), and is informally termed gene regulation.
Response elements are short sequences of DNA within a gene promoter region that are able to bind specific transcription factors and regulate transcription of genes.
is a Japanese mystery horror novel by Koji Suzuki first published in 1991, and set in modern-day Japan.
RNA polymerase II (RNAP II and Pol II) is a multiprotein complex.
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation.
is the central character and antagonist of Koji Suzuki's ''Ring'' novel series along with its numerous film and television adaptions.
Sample size determination is the act of choosing the number of observations or replicates to include in a statistical sample.
The scrotum is an anatomical male reproductive structure that consists of a suspended dual-chambered sack of skin and smooth muscle that is present in most terrestrial male mammals and located under the penis.
Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals.
A semen analysis (plural: semen analyses), also called "seminogram" evaluates certain characteristics of a male's semen and the sperm contained therein.
The seminal vesicles (glandulae vesiculosae), vesicular glands, or seminal glands, are a pair of simple tubular glands posteroinferior to the urinary bladder of some male mammals.
A Sertoli cell (a kind of sustentacular cell) is a "nurse" cell of the testicles that is part of a seminiferous tubule and helps in the process of spermatogenesis, the production of sperm.
Sex assignment (sometimes known as gender assignment) is the determination of an infant's sex at birth.
A sex organ (or reproductive organ) is any part of an animal's body that is involved in sexual reproduction.
Sexual differentiation is the process of development of the differences between males and females from an undifferentiated zygote.
Sexual differentiation in humans is the process of development of sex differences in humans.
Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis.
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a progressive debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord.
In statistics, a population is a set of similar items or events which is of interest for some question or experiment.
The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling activity of genes related to the reproductive glands or gonads and adrenal glands.
Symptomatic treatment is any medical therapy of a disease that only affects its symptoms, not its cause, i.e., its etiology.
Taxonomy is the science of defining and naming groups of biological organisms on the basis of shared characteristics.
Terminal hairs are thick, long, and dark, as compared with vellus hair.
Testicular cancer is cancer that develops in the testicles, a part of the male reproductive system.
Testosterone is the primary male sex hormone and an anabolic steroid.
Testosterone is a medication and naturally occurring steroid hormone.
In the context of gene regulation: transactivation is the increased rate of gene expression triggered either by biological processes or by artificial means, through the expression of an intermediate transactivator protein.
Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.
In molecular biology and genetics, transcription coregulators are proteins that interact with transcription factors to either activate or repress the transcription of specific genes.
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence.
In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.
Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or intronsDavid W. Sanders & Clifford P. Brangwynne (2017), Nature, 546, 215–216 (08 June 2017) exceed the normal, stable threshold, which differs per gene.
True hermaphroditism, clinically known as ovotesticular disorder of sex development, is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.
In molecular biology and genetics, upstream and downstream both refer to relative positions of genetic code in DNA or RNA.
In anatomy, the urethra (from Greek οὐρήθρα – ourḗthrā) is a tube that connects the urinary bladder to the urinary meatus for the removal of urine from the body.
The uterus (from Latin "uterus", plural uteri) or womb is a major female hormone-responsive secondary sex organ of the reproductive system in humans and most other mammals.
Vaginal atresia is a condition in which the vagina is abnormally closed or absent.
The vas deferens (Latin: "carrying-away vessel"; plural: vasa deferentia), also called ductus deferens (Latin: "carrying-away duct"; plural: ductus deferentes), is part of the male reproductive system of many vertebrates; these vasa transport sperm from the epididymis to the ejaculatory ducts in anticipation of ejaculation.
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop '''W'''ilms tumour (a tumour of the kidneys), '''A'''niridia (absence of the coloured part of the eye, the iris), '''G'''enitourinary anomalies, and mental '''R'''etardation.
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
This syndrome is inherited as an autosomal disease.
Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY.
The Y chromosome is one of two sex chromosomes (allosomes) in mammals, including humans, and many other animals.
A zinc finger is a small protein structural motif that is characterized by the coordination of one or more zinc ions (Zn2+) in order to stabilize the fold.
Zygosity is the degree of similarity of the alleles for a trait in an organism.
A zygote (from Greek ζυγωτός zygōtos "joined" or "yoked", from ζυγοῦν zygoun "to join" or "to yoke") is a eukaryotic cell formed by a fertilization event between two gametes.
17β-Hydroxysteroid dehydrogenase III deficiency is a rare disorder of sexual development, or intersex condition, affecting testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), which can produce impaired virilization (historically termed male pseudohermaphroditism) of genetically male infants.
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, "45,X/46,XY including Y chromosome rearrangements".
5α-reductases, also known as 3-oxo-5α-steroid 4-dehydrogenases, are enzymes involved in steroid metabolism.
5α-Reductase deficiency (5-ARD) is an autosomal recessive intersex condition caused by a mutation of the 5α reductase type II gene.
AR deficiency, Androgen Insensitivity Syndrome, Androgen immunity syndrome, Androgen insensitive, Androgen insensitivity, Androgen resistance syndrome, Androgen-Insensitivity Syndrome, Androgen-insensitivity syndrome, DHTR deficiency, Dihydrotestosterone receptor deficiency, Eve principle, Infertile male syndrome, Morris' syndrome, Morris's Syndrome, Testicular Feminization, Testicular feminisation, Testicular feminization, Testicular feminization syndrome, Testicular-feminization syndrome, Testicular-feminizing syndrome, Undervirilized male syndrome.