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Androgen insensitivity syndrome

Index Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an intersex condition in which there is a partial or complete inability of many cells in the affected genetic male to respond to androgenic hormones. [1]

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) »

Aarskog–Scott syndrome

Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.

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Abdominal cavity

The abdominal cavity is a large body cavity in humans and many other animals that contains many organs.

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Acta Eruditorum

Acta Eruditorum (Latin for "reports/acts of the scholars") was the first scientific journal of the German lands, published from 1682 to 1782.

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Adrenal gland

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.

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Agenesis

In medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.

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Ambroise Paré

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.

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Amino acid

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.

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Anabolic steroid

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.

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Anabolism

Anabolism (from ἁνά, "upward" and βάλλειν, "to throw") is the set of metabolic pathways that construct molecules from smaller units.

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Anatomy

Anatomy (Greek anatomē, “dissection”) is the branch of biology concerned with the study of the structure of organisms and their parts.

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Androgen

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.

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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.

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Anorchia

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.

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Anti-Müllerian hormone

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.

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Antiestrogen

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.

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Aromatase deficiency

Aromatase deficiency is a very rare condition characterised by the extremely low or absence of the enzyme aromatase activity in the body.

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Aromatization

Aromatization is a chemical reaction in which an aromatic system is formed.

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Barr body

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.

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Biosynthesis

Biosynthesis (also called anabolism) is a multi-step, enzyme-catalyzed process where substrates are converted into more complex products in living organisms.

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Body shape

Human body shape is a complex phenomenon with sophisticated detail and function.

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Bonnie Hart

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.

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C-terminus

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).

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Case report

In medicine, a case report is a detailed report of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient.

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Castration

Castration (also known as gonadectomy) is any action, surgical, chemical, or otherwise, by which an individual loses use of the testicles.

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Cell (biology)

The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.

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Cell nucleus

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.

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Central nervous system

The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.

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Cervix

The cervix or cervix uteri (neck of the uterus) is the lower part of the uterus in the human female reproductive system.

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Chemical structure

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.

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Chromatin remodeling

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.

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Chromosome abnormality

A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.

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Coactivator (genetics)

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.

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Complete androgen insensitivity syndrome

Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens.

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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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.

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Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

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.

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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.

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Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase 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).

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Cortex (anatomy)

In anatomy and zoology, the cortex (Latin for bark, rind, shell or husk) is the outermost (or superficial) layer of an organ.

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Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum.

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Cytoplasm

In cell biology, the cytoplasm is the material within a living cell, excluding the cell nucleus.

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Cytotoxicity

Cytotoxicity is the quality of being toxic to cells.

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Dazed

Dazed (formerly Dazed & Confused) is a bi-monthly British style magazine founded in 1991.

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Denys–Drash syndrome

Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.

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Development of the gonads

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.

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Differential diagnosis

In medicine, a differential diagnosis is the distinguishing of a particular disease or condition from others that present similar clinical features.

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Dihydrotestosterone

Dihydrotestosterone (DHT), or 5α-dihydrotestosterone (5α-DHT), also known as androstanolone or stanolone, is an endogenous androgen sex steroid and hormone.

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DNA

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.

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DNA sequencing

DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.

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DNA-binding domain

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.

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Dysplasia

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).

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Edwin Klebs

Theodor Albrecht Edwin Klebs (6 February 1834 – 23 October 1913) was a German-Swiss pathologist.

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Egg cell

The egg cell, or ovum (plural ova), is the female reproductive cell (gamete) in oogamous organisms.

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Embryo

An embryo is an early stage of development of a multicellular diploid eukaryotic organism.

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Endocrine system

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.

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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.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Epididymis

The epididymis (plural: epididymides or) is a tube that connects a testicle to a vas deferens in the male reproductive system.

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Estradiol

Estradiol (E2), also spelled oestradiol, is an estrogen steroid hormone and the major female sex hormone.

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Estrogen

Estrogen, or oestrogen, is the primary female sex hormone.

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Estrogen insensitivity syndrome

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.

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Estrogen receptor

Estrogen receptors (ERs) are a group of proteins found inside cells.

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Exon

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.

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Faking It (U.S. TV series)

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.

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Fallopian tube

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.

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Female body shape

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.

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Female reproductive system

The female reproductive system is made up of the internal and external sex organs that function in reproduction of new offspring.

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Fibroblast

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.

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Frameshift mutation

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.

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Frasier syndrome

Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene.

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Frederik Ruysch

Frederik Ruysch (March 28, 1638 – February 22, 1731) was a Dutch botanist and anatomist.

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Gender binary

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.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Gene expression

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.

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Genetic analysis

Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology.

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Genetic code

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.

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Genetic counseling

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.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genitoplasty

Genitoplasty is plastic surgery to the genitals.

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Germ cell

A germ cell is any biological cell that gives rise to the gametes of an organism that reproduces sexually.

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Germ cell tumor

A germ cell tumor (GCT) is a neoplasm derived from germ cells.

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Gestation

Gestation is the carrying of an embryo or fetus inside viviparous animals.

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Glutamine

Glutamine (symbol Gln or Q) is an α-amino acid that is used in the biosynthesis of proteins.

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Glycine

Glycine (symbol Gly or G) is the amino acid that has a single hydrogen atom as its side chain.

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Gonad

A gonad or sex gland or reproductive gland is a mixed gland that produces the gametes (sex cells) and sex hormones of an organism.

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Gonadal ridge

In embryology, the gonadal ridge (or urogenital ridge) is the precursor to the gonads.

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Gynaecology

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.

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Hand-foot-genital syndrome

Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects.

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Hanne Gaby Odiele

Hanne Gaby Odiele (born 8 October 1987) is a Belgian model, known for her work with various high-profile fashion-industry clients.

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Heat shock protein

Heat shock proteins (HSP) are a family of proteins that are produced by cells in response to exposure to stressful conditions.

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Hepatocellular carcinoma

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.

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Heredity

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.

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Histology

Histology, also microanatomy, is the study of the anatomy of cells and tissues of plants and animals using microscopy.

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Histopathology

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.

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Hormone response element

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.

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House (season 2)

The second season of House premiered on September 13, 2005 and ended on May 23, 2006.

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House (TV series)

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.

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Human penis

The human penis is an external male intromittent organ that additionally serves as the urinal duct.

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Hypoplasia

Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.

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Hypospadias

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.

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Incidence (epidemiology)

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.

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Infertility

Infertility is the inability of a person, animal or plant to reproduce by natural means.

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Intellectual disability

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.

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Interact Advocates for Intersex Youth

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.

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Intersex

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".

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Intersex Human Rights Australia

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.

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Intersex medical interventions

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.

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Intron

An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.

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Isidore Geoffroy Saint-Hilaire

Isidore Geoffroy Saint-Hilaire (16 December 1805 – 10 November 1861) was a French zoologist and an authority on deviation from normal structure.

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James Young Simpson

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.

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Johannes Peter Müller

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.

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Kallmann syndrome

Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty.

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Karyotype

A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.

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Klinefelter syndrome

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.

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Koji Suzuki

is a Japanese writer, who was born in Hamamatsu and lives in Tokyo.

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Lawson Wilkins

Lawson Wilkins was a pioneering pediatric endocrinologist.

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Leydig cell

Leydig cells, also known as interstitial cells of Leydig, are found adjacent to the seminiferous tubules in the testicle.

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Ligand (biochemistry)

In biochemistry and pharmacology, a ligand is a substance that forms a complex with a biomolecule to serve a biological purpose.

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Lipoid congenital adrenal hyperplasia

Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH).

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Locus (genetics)

A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).

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Luteinizing hormone

Luteinizing hormone (LH, also known as lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior pituitary gland.

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Luteoma

A luteoma is a tumor that occurs in the ovaries during pregnancy.

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Male breast cancer

Male breast cancer (male breast neoplasm) is a rare cancer in males that originates from the breast.

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Male infertility

Male infertility refers to a male's inability to cause pregnancy in a fertile female.

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Mary F. Lyon

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.

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Müllerian agenesis

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.

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McKusick–Kaufman syndrome

McKusick–Kaufman syndrome is a genetic condition associated with MKKS.

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Mesonephric duct

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.

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Meta-analysis

A meta-analysis is a statistical analysis that combines the results of multiple scientific studies.

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Methyltestosterone

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.

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Micropenis

Micropenis is an unusually small penis.

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Microsatellite

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.

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Mild androgen insensitivity syndrome

Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens.

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Missense mutation

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.

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Molecular cloning

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.

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Mosaic (genetics)

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.

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MTV

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.

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Mutation

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.

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N-terminus

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.

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Neoplasm

Neoplasia is a type of abnormal and excessive growth of tissue.

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Neurodegeneration

Neurodegeneration is the progressive loss of structure or function of neurons, including death of neurons.

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Nicolas Venette

Nicolas Venette (1633–1698) was a physician, sexologist and French writer.

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Nomenclature

Nomenclature is a system of names or terms, or the rules for forming these terms in a particular field of arts or sciences.

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Nonsense mutation

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.

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Nuclear localization sequence

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.

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Nuclear receptor

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.

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Nucleic acid sequence

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.

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Nucleotide

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.

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Orchids, My Intersex Adventure

Orchids, My Intersex Adventure is an auto-biographicalATOM Award description, Interview with Phoebe Hart, Melbourne, Australia.

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Paramesonephric duct

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.

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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.

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Pathogenesis

The pathogenesis of a disease is the biological mechanism (or mechanisms) that leads to the diseased state.

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Pathology

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.

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Phenotype

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).

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Phoebe Hart

Phoebe Hart is a film maker, lecturer and intersex rights activist, born with Androgen Insensitivity Syndrome.

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Physiology

Physiology is the scientific study of normal mechanisms, and their interactions, which work within a living system.

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Polyglutamine tract

A polyglutamine tract or polyQ tract is a portion of a protein consisting of a sequence of several glutamine units.

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Popliteal pterygium syndrome

Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.

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Postmenopausal hormone therapy

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.

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Preimplantation genetic diagnosis

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.

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Prostate

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.

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Prostate cancer

Prostate cancer is the development of cancer in the prostate, a gland in the male reproductive system.

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Protein dimer

In biochemistry, a protein dimer is a macromolecular complex formed by two protein monomers, or single proteins, which are usually non-covalently bound.

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Protein domain

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.

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Protein folding

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.

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Protein phosphorylation

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.

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Proteolysis

Proteolysis is the breakdown of proteins into smaller polypeptides or amino acids.

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Pseudohermaphroditism

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).

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Psychotherapy

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.

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Puberty

Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction.

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Quigley scale

The Quigley scale is a descriptive, visual system of phenotypic grading that uses seven classes between "fully masculinized" and "fully feminized" genitalia.

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Regulation of gene expression

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.

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Response element

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.

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Ring (Suzuki novel)

is a Japanese mystery horror novel by Koji Suzuki first published in 1991, and set in modern-day Japan.

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RNA polymerase II

RNA polymerase II (RNAP II and Pol II) is a multiprotein complex.

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Robinow syndrome

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.

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Sadako Yamamura

is the central character and antagonist of Koji Suzuki's ''Ring'' novel series along with its numerous film and television adaptions.

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Sample size determination

Sample size determination is the act of choosing the number of observations or replicates to include in a statistical sample.

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Scrotum

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.

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Secondary sex characteristic

Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals.

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Semen analysis

A semen analysis (plural: semen analyses), also called "seminogram" evaluates certain characteristics of a male's semen and the sperm contained therein.

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Seminal vesicle

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.

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Sertoli cell

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.

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Sex assignment

Sex assignment (sometimes known as gender assignment) is the determination of an infant's sex at birth.

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Sex organ

A sex organ (or reproductive organ) is any part of an animal's body that is involved in sexual reproduction.

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Sexual differentiation

Sexual differentiation is the process of development of the differences between males and females from an undifferentiated zygote.

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Sexual differentiation in humans

Sexual differentiation in humans is the process of development of sex differences in humans.

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Smith–Lemli–Opitz syndrome

Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.

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Spermatogenesis

Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis.

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Spinal and bulbar muscular atrophy

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.

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Statistical population

In statistics, a population is a set of similar items or events which is of interest for some question or experiment.

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Steroidogenic factor 1

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.

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Symptomatic treatment

Symptomatic treatment is any medical therapy of a disease that only affects its symptoms, not its cause, i.e., its etiology.

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Taxonomy (biology)

Taxonomy is the science of defining and naming groups of biological organisms on the basis of shared characteristics.

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Terminal hair

Terminal hairs are thick, long, and dark, as compared with vellus hair.

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Testicular cancer

Testicular cancer is cancer that develops in the testicles, a part of the male reproductive system.

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Testosterone

Testosterone is the primary male sex hormone and an anabolic steroid.

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Testosterone (medication)

Testosterone is a medication and naturally occurring steroid hormone.

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Transactivation

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.

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Transcription (biology)

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.

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Transcription coregulator

In molecular biology and genetics, transcription coregulators are proteins that interact with transcription factors to either activate or repress the transcription of specific genes.

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Transcription factor

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.

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Translation (biology)

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.

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Trinucleotide repeat disorder

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.

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True hermaphroditism

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.

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Turner syndrome

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.

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Upstream and downstream (DNA)

In molecular biology and genetics, upstream and downstream both refer to relative positions of genetic code in DNA or RNA.

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Urethra

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.

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Uterus

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.

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Vaginal atresia

Vaginal atresia is a condition in which the vagina is abnormally closed or absent.

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Vas deferens

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.

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WAGR syndrome

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.

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X chromosome

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.

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X-linked recessive inheritance

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.

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XX gonadal dysgenesis

This syndrome is inherited as an autosomal disease.

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XY gonadal dysgenesis

Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY.

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Y chromosome

The Y chromosome is one of two sex chromosomes (allosomes) in mammals, including humans, and many other animals.

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Zinc finger

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.

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Zygosity

Zygosity is the degree of similarity of the alleles for a trait in an organism.

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Zygote

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.

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17β-Hydroxysteroid dehydrogenase III deficiency

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.

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45,X/46,XY mosaicism

45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, "45,X/46,XY including Y chromosome rearrangements".

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5α-Reductase

5α-reductases, also known as 3-oxo-5α-steroid 4-dehydrogenases, are enzymes involved in steroid metabolism.

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5α-Reductase deficiency

5α-Reductase deficiency (5-ARD) is an autosomal recessive intersex condition caused by a mutation of the 5α reductase type II gene.

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Redirects here:

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.

References

[1] https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome

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