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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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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. [1]

121 relations: Acid, Acne vulgaris, Adrenal gland, Adrenal insufficiency, Adrenocorticotropic hormone, Aldosterone, Allele, Amenorrhoea, Amniocentesis, Andrea Prader, Androgen, Androstenedione, Anovulation, Anti-Müllerian hormone, Aromatase, Blood pressure, Body odor, Bone age, Cholesterol, Chordee, Chorionic villus sampling, Clitoris, Compliance (medicine), Congenital adrenal hyperplasia, Cortisol, Cryptorchidism, Cushing's syndrome, Cytochrome P450, Dehydration, Dehydroepiandrosterone, Dexamethasone, Dialysis, Disorders of sex development, DNA, Dominance (genetics), Electrolyte, Endoplasmic reticulum, Epiphysis, Estradiol, Fallopian tube, Fludrocortisone, Flutamide, Gender identity, Genetic carrier, Genetic recombination, Glucocorticoid, Gonad, Gonadotropin-releasing hormone, Growth hormone treatment, Hirsutism, ..., History of intersex surgery, Human leukocyte antigen, Human penis, Hydroxylation, Hyperkalemia, Hypoglycemia, Hyponatremia, Hypospadias, Hypothalamus, Inborn error of metabolism, Inborn errors of steroid metabolism, Infertility, Intersex, Intersex Society of North America, Intersex surgery, John Money, Karyotype, Labia, Leuprorelin, Lordosis behavior, Mammal, Maria New, Medical identification tag, Menstrual cycle, Metabolic acidosis, Milton Diamond, Mineralocorticoid, Newborn screening, Ovary, Ovulation, Pediatric endocrinology, Pediatric surgery, Pediatric urology, Phallus, Placenta, Polycystic ovary syndrome, Potassium, Prader scale, Precocious puberty, Prednisolone, Prednisone, Pregnenolone, Progesterone, Pseudogene, Pseudohermaphroditism, Puberty, Pubic hair, Renin, Rodent, Scrotum, Sensitivity and specificity, Sex assignment, Sex steroid, Sexual dimorphism, Sexual intercourse, Sexual orientation, Shock (circulatory), Sodium, Testicle, Testolactone, Testosterone, Tetracosactide, Urethra, Urinary retention, Urinary tract infection, Uterus, Vagina, Virilization, Zygosity, 17-Hydroxyprogesterone, 21-Hydroxylase. Expand index (71 more) »

Acid

An acid (from the Latin acidus/acēre meaning sour) is a chemical substance whose aqueous solutions are characterized by a sour taste, the ability to turn blue litmus red, and the ability to react with bases and certain metals (like calcium) to form salts.

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Acne vulgaris

Acne vulgaris (or simply acne) is a long-term skin condition characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.

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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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Adrenal insufficiency

Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol; but may also include impaired production of aldosterone (a mineralocorticoid), which regulates sodium conservation, potassium secretion, and water retention.

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Adrenocorticotropic hormone

Adrenocorticotropic hormone (ACTH), also known as corticotropin (INN, BAN) (brand names Acortan, ACTH, Acthar, Acton, Cortigel, Trofocortina), is a polypeptide tropic hormone produced and secreted by the anterior pituitary gland.

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Aldosterone

Aldosterone is a steroid hormone (mineralocorticoid family) produced by the outer section (zona glomerulosa) of the adrenal cortex in the adrenal gland.

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Allele

An allele, or allel, is one of a number of alternative forms of the same gene or same genetic locus.

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Amenorrhoea

Amenorrhoea (BE), amenorrhea (AmE), or amenorrhœa, is the absence of a menstrual period in a woman of reproductive age.

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Amniocentesis

Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also used for sex determination in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities.

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Andrea Prader

Andrea Prader was a Swiss scientist, physician, and pediatric endocrinologist.

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Androgen

Androgen (from andro Greek prefix meaning masculine), also called androgenic hormone or testoid, is any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors.

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Androstenedione

Androstenedione may refer to.

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Anovulation

An anovulatory cycle is a menstrual cycle during which the ovaries do not release an oocyte.

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Anti-Müllerian hormone

Anti-Müllerian hormone also known as AMH is a protein that, in humans, is encoded by the AMH gene.

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Aromatase

Aromatase, also called estrogen synthetase or estrogen synthase, is an enzyme responsible for a key step in the biosynthesis of estrogens.

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Blood pressure

Blood pressure (BP) is the pressure exerted by circulating blood upon the walls of blood vessels.

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Body odor

Body odor (BO), also spelled body odour, is present in animals (including humans), and its intensity can be influenced by many factors (behavioural patterns, survival strategies).

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Bone age

Bone age is the degree of maturation of a child's bones.

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Cholesterol

Cholesterol, from the Ancient Greek chole- (bile) and stereos (solid) followed by the chemical suffix -ol for an alcohol, is an organic molecule.

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Chordee

Chordee is a condition in which the head of the penis curves downward or upward, at the junction of the head and shaft of the penis.

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Chorionic villus sampling

Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.

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Clitoris

The clitoris is a female sex organ present in mammals, ostriches and a limited number of other animals.

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Compliance (medicine)

In medicine, compliance (also adherence, capacitance) describes the degree to which a patient correctly follows medical advice.

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Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).

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Cortisol

Cortisol is a steroid hormone, in the glucocorticoid class of hormones, and is produced in humans by the zona fasciculata of the adrenal cortex within the adrenal gland.

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Cryptorchidism

Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum.

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Cushing's syndrome

Cushing's syndrome, also known as hypercortisolism, Itsenko-Cushing syndrome, and hyperadrenocorticism, is a collection of signs and symptoms due to prolonged exposure to cortisol.

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Cytochrome P450

Cytochromes P450 (CYPs) belong to the superfamily of proteins containing a heme cofactor and, therefore, are hemoproteins.

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Dehydration

Dehydration, also known as hypohydration, is not enough body water, with an accompanying disruption of metabolic processes.

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Dehydroepiandrosterone

Dehydroepiandrosterone/dehydroepiandrostenedione (DHEA, more correctly didehydroepiandrosterone), also known as androstenolone or prasterone (INN), as well as 3β-hydroxyandrost-5-en-17-one or 5-androsten-3β-ol-17-one, is an important endogenous steroid hormone.

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Dexamethasone

Dexamethasone is a type of steroid medication.

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Dialysis

In medicine, Dialysis (from Greek dialusis,"διάλυσις", meaning dissolution, dia, meaning through, and lysis, meaning loosening or splitting) is a process for removing waste and excess water from the blood and is used primarily as an artificial replacement for lost kidney function in people with kidney failure.

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Disorders of sex development

Disorders of sex development (DSD), sometimes referred to as disorders of sex differentiation or differences of sex development, are medical conditions involving the reproductive system.

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DNA

Deoxyribonucleic acid (DNA) is a molecule that carries most of the genetic instructions used in the development, functioning and reproduction of all known living organisms and many viruses.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Electrolyte

An electrolyte (Etymology: Greek lytós able to be untied or loosened) is a substance that produces an electrically conducting solution when dissolved in a polar solvent, such as water.

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Endoplasmic reticulum

The endoplasmic reticulum (ER) is a type of organelle in the cells of eukaryotic organisms that forms an interconnected network of flattened, membrane-enclosed sacs or tubes known as cisternae.

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Epiphysis

The epiphysis is the rounded end of a long bone, at its joint with adjacent bone(s).

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Estradiol

Estradiol, or more precisely, 17β-estradiol, is a steroid and estrogen sex hormone, and the primary female sex hormone.

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Fallopian tube

The Fallopian tubes, also known as, uterine tubes, and salpinges (singular salpinx), are two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction.

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Fludrocortisone

Fludrocortisone (also called 9α-fluorocortisol or 9α-fluorohydrocortisone) is a synthetic corticosteroid with moderate glucocorticoid potency and much greater mineralocorticoid potency.

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Flutamide

Flutamide (INN, USAN, BAN) (brand names Eulexin, Cytomid, Cebatrol, Chimax, Drogenil, Eulexin, Flucinom, Flutamin, Fugerel, Niftolide, Sebatrol) is an synthetic, non-steroidal, pure antiandrogen used primarily to treat prostate cancer.

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Gender identity

Gender identity is one's personal experience of one's own gender.

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Genetic carrier

A genetic carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but does not display that trait or show symptoms of the disease.

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Genetic recombination

Genetic recombination is the production of offspring with combinations of traits that differ from those found in either parent.

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Glucocorticoid

Glucocorticoids (GCs) are a class of steroid hormones which bind to the glucocorticoid receptor (GR), that is present in almost every vertebrate animal cell.

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Gonad

A gonad or sex gland or reproductive gland is an endocrine gland that produces the gametes (germ cells) of an organism.

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Gonadotropin-releasing hormone

Gonadotropin-releasing hormone (GnRH), also known as luteinizing hormone-releasing hormone (LHRH) and luliberin, as well as gonadorelin (INN), is a trophic peptide hormone responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the anterior pituitary.

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Growth hormone treatment

Growth hormone treatment refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy.

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Hirsutism

Hirsutism is the excessive hairiness on women in those parts of the body where terminal hair does not normally occur or is minimal — for example, a beard or chest hair.

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History of intersex surgery

The history of intersex surgery is intertwined with the development of the specialities of pediatric surgery, pediatric urology, and pediatric endocrinology, with our increasingly refined understanding of sexual differentiation, with the development of political advocacy groups united by a human qualified analysis, and in the last decade by doubts as to efficacy, and controversy over when and even whether some procedures should be performed.

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Human leukocyte antigen

The human leukocyte antigen (HLA) system is the locus of genes that encode for proteins on the surface of cells that are responsible for regulation of the immune system in humans.

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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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Hydroxylation

Hydroxylation is a chemical process that introduces a hydroxyl group (-OH) into an organic compound.

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Hyperkalemia

Hyperkalemia (hyperkalaemia in British English, hyper- high; kalium, potassium; -emia, "in the blood") refers to the condition in which the concentration of the electrolyte potassium (K+) in the blood is elevated.

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Hypoglycemia

Hypoglycemia, also known as low blood sugar or low blood glucose, is when blood sugar decreases to below normal.

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Hyponatremia

Hyponatremia (American English) or hyponatraemia (British English) is low sodium concentration in the blood.

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Hypospadias

Hypospadias refers to a birth defect of the urethra in the male where the urinary opening is not at the usual location on the head of the penis.

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Hypothalamus

The hypothalamus (from Greek ὑπό, "under" and θάλαμος, "room, chamber") is a portion of the brain that contains a number of small nuclei with a variety of functions.

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Inborn error of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

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Inborn errors of steroid metabolism

An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.

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Infertility

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

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Intersex

Intersex, in humans and other animals, is a variation in sex characteristics including chromosomes, gonads, or genitals that do not allow an individual to be distinctly identified as male or female.

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Intersex Society of North America

The Intersex Society of North America (ISNA) was a non-profit advocacy group founded in 1993 by Cheryl Chase to end shame, secrecy, and unwanted genital surgeries.

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Intersex surgery

Intersex surgery is surgery performed to "fix" atypical or ambiguous genitalia, a form of genital reconstructive surgery, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems.

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John Money

John William Money (8 July 1921 – 7 July 2006) was a psychologist, sexologist and author, specializing in research into sexual identity and biology of gender.

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Karyotype

A karyotype (from Greek κάρυον karyon, "kernel", "seed", or "nucleus", and τύπος typos, "general form") is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.

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Labia

The labia are part of the female genitalia; they are the major externally visible portions of the vulva.

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Leuprorelin

Leuprorelin (INN) or leuprolide acetate (USAN) is a GnRH analog.

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Lordosis behavior

Lordosis behavior, also known as mammalian lordosis (Greek lordōsis, from lordos "bent backward") or presenting, is a body posture adopted by some mammals including elephants, rodents, felines and others, usually associated with female receptivity to copulation.

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Mammal

Mammals (class Mammalia from Latin mamma "breast") are any members of a clade of endothermic amniotes distinguished from reptiles and birds by the possession of hair, three middle ear bones, mammary glands, and a neocortex (a region of the brain).

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Maria New

Maria Iandolo New is a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City.

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Medical identification tag

A medical identification tag is a small emblem or tag worn on a bracelet, neck chain, or on the clothing bearing a message that the wearer has an important medical condition that might require immediate attention.

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Menstrual cycle

The menstrual cycle is the regular natural changes that occurs in the uterus and ovaries that make pregnancy possible.

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Metabolic acidosis

Metabolic acidosis is a condition that occurs when the body produces excessive quantities of acid or when the kidneys are not removing enough acid from the body.

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Milton Diamond

Milton Diamond (born March 6, 1934 in New York City) is a Professor Emeritus of anatomy and reproductive biology at the University of Hawaiʻi at Mānoa.

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Mineralocorticoid

Mineralocorticoid(s) are a class of steroid hormones characterized by their influence on salt and water balances.

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Newborn screening

Newborn screening is a public health program designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.

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Ovary

The ovary (From ovarium, literally "egg" or "nut") is an ovum-producing reproductive organ, often found in pairs as part of the vertebrate female reproductive system.

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Ovulation

Ovulation is the release of egg from the ovaries.

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Pediatric endocrinology

Pediatric endocrinology (British: Paediatric) is a medical subspecialty dealing with variations of physical growth and sexual development in childhood, as well as diabetes and other disorders of the endocrine glands.

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Pediatric surgery

Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.

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Pediatric urology

Pediatric urology is a surgical subspecialty of medicine dealing with the disorders of children's genitourinary systems.

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Phallus

A phallus is a penis, especially when erect, a penis-shaped object, or a mimetic image of an erect penis.

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Placenta

The placenta (also known as afterbirth) is an organ that connects the developing fetus to the uterine wall to allow nutrient uptake, waste elimination, and gas exchange via the mother's blood supply, fight against internal infection and produce hormones to support pregnancy.

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Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS), also called hyperandrogenic anovulation (HA), or Stein–Leventhal syndrome, is a set of symptoms due to a hormone imbalance in women.

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Potassium

Potassium is a chemical element with symbol K (derived from Neo-Latin kalium) and atomic number 19.

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Prader scale

The Prader scale or Prader staging, named after Dr.

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Precocious puberty

In medicine, precocious puberty is puberty occurring at an unusually early age.

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Prednisolone

Prednisolone is a synthetic glucocorticoid, a derivative of cortisol, which is used to treat a variety of inflammatory and auto-immune conditions.

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Prednisone

Prednisone is a synthetic corticosteroid drug that is particularly effective as an immunosuppressant drug.

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Pregnenolone

Pregnenolone (3β-hydroxypregn-5-en-20-one), also known as P5, is an endogenous steroid hormone.

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Progesterone

Progesterone (abbreviated as P4), also known as pregn-4-ene-3,20-dione, is an endogenous steroid and progestogen sex hormone involved in the menstrual cycle, pregnancy, and embryogenesis of humans and other species.

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Pseudogene

Pseudogenes are dysfunctional relatives of genes that have lost their gene expression in the cell or their ability to code protein.

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Pseudohermaphroditism

Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism 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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Puberty

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

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Pubic hair

Pubic hair is the hair in the frontal genital area of adolescent and adult humans, located on and around the sex organs, the crotch, and sometimes at the top of the inside of the thighs, in the pubic region around the pubis bone.

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Renin

Renin (etymology and pronunciation), also known as an angiotensinogenase, is an enzyme that participates in the body's renin-angiotensin aldosterone system (RAAS)—also known as the renin-angiotensin-aldosterone axis—that mediates extracellular volume (i.e., that of the blood plasma, lymph and interstitial fluid), and arterial vasoconstriction.

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Rodent

Rodents (from Latin rodere, "to gnaw") are mammals of the order Rodentia, which are characterized by a single pair of unremittingly growing incisors in each of the upper and lower jaws.

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Scrotum

The scrotum is an anatomical male reproductive structure that consists of a suspended sack of skin and smooth muscle that is dual-chambered, present in most terrestrial male mammals and located under the penis.

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Sensitivity and specificity

Sensitivity and specificity are statistical measures of the performance of a binary classification test, also known in statistics as classification function.

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Sex assignment

Sex assignment (sometimes known as gender assignment) is the discernment of the sex at the birth of a baby.

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Sex steroid

Sex steroids, also known as gonadal steroids, are steroid hormones that interact with vertebrate androgen or estrogen receptors.

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Sexual dimorphism

Sexual dimorphism is a phenotypic differentiation between males and females of the same species.

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Sexual intercourse

Sexual intercourse, or coitus or copulation, is principally the insertion and thrusting of a male's penis, usually when erect, into a female's vagina for the purposes of sexual pleasure, reproduction, or both.

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Sexual orientation

Sexual orientation is an enduring pattern of romantic or sexual attraction (or a combination of these) to persons of the opposite sex or gender, the same sex or gender, or to both sexes or more than one gender.

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Shock (circulatory)

Circulatory shock, commonly known as shock, is a life-threatening medical condition of low blood perfusion to tissues resulting in cellular injury and inadequate tissue function.

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Sodium

Sodium is a chemical element with symbol Na (from New Latin natrium) and atomic number 11.

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Testicle

The testicle (from Latin testiculus, diminutive of testis, meaning "witness" of virility, plural testes) is the male gonad in animals.

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Testolactone

Testolactone (brand name Teslac) is an antineoplastic agent that is a derivative of progesterone and is used to treat advanced stage breast cancer.

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Testosterone

Testosterone is a steroid hormone from the androgen group and is found in humans and other vertebrates.

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Tetracosactide

Tetracosactide (INN) (brand names Synacthen, Cortrosyn), also known as tetracosactrin (BAN) and cosyntropin (USAN), and the acetate ester, tetracosactide acetate (JAN) (brand names Cortrosina, Cortrosyn, Nuvacthen, Synacthen), also known as tetracosactrin acetate (BANM), is a synthetic peptide and analogue of adrenocorticotrophic hormone (ACTH) which is used clinically as a diagnostic agent.

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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 fluids from the body.

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Urinary retention

Urinary retention, also known as ischuria, is an inability to completely empty the bladder.

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Urinary tract infection

A urinary tract infection (UTI), also known as acute cystitis or bladder infection, is an infection that affects part of the urinary tract.

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Uterus

The uterus (from Latin "uterus", plural uteri) or womb is a major female hormone-responsive reproductive sex organ of most mammals, including humans.

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Vagina

The vagina is a sex organ that is part of the female genital tract.

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Virilization

In biology and medicine, virilization or masculinization is the biological development of sex differences, changes that make a male body different from a female body.

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Zygosity

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

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17-Hydroxyprogesterone

17-Hydroxyprogesterone (17-OHP) is an endogenous progestogen as well as chemical intermediate in the biosynthesis of other steroid hormones, including the corticosteroids and the androgens and the estrogens.

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21-Hydroxylase

Steroid 21-hydroxylase is a cytochrome P450 enzyme that is involved with the biosynthesis of the steroid hormones aldosterone and cortisol.

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Redirects here:

21 hydroxylase deficiency, 21-Hydroxylase deficiency, 21-hydroxylase deficiency.

References

[1] https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency

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