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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]

122 relations: Acid, Acne, ACTH stimulation test, Adherence (medicine), Adrenal gland, Adrenal insufficiency, Adrenocorticotropic hormone, Aldosterone, Allele, Amenorrhea, Amniocentesis, Andrea Prader, Androgen, Androstenedione, Anovulation, Anti-Müllerian hormone, Aromatase, Blood pressure, Body odor, Bone age, Cholesterol, Chordee, Chorionic villus sampling, Clitoris, 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 therapy, ..., Hirsutism, History of intersex surgery, Human leukocyte antigen, Human penis, Hydrocortisone, Hydroxylation, Hyperkalemia, Hypoglycemia, Hyponatremia, Hypospadias, Hypothalamus, Inborn errors of metabolism, Inborn errors of steroid metabolism, Infertility, Intersex, Intersex medical interventions, Intersex Society of North America, 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, Urethra, Urinary retention, Urinary tract infection, Uterus, Vagina, Virilization, Zygosity, 17α-Hydroxyprogesterone, 21-Hydroxylase. Expand index (72 more) »

Acid

An acid is a molecule or ion capable of donating a hydron (proton or hydrogen ion H+), or, alternatively, capable of forming a covalent bond with an electron pair (a Lewis acid).

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Acne

Acne, also known as acne vulgaris, is a long-term skin disease that occurs when hair follicles are clogged with dead skin cells and oil from the skin.

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ACTH stimulation test

The ACTH test (also called the cosyntropin, tetracosactide, or Synacthen test) is a medical test usually ordered and interpreted by endocrinologists to assess the functioning of the adrenal glands stress response by measuring the adrenal response to adrenocorticotropic hormone (ACTH; corticotropin) or another corticotropic agent such as tetracosactide (cosyntropin, tetracosactrin; Synacthen) or alsactide (Synchrodyn).

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Adherence (medicine)

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

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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 adrenocorticotropin, corticotropin) is a polypeptide tropic hormone produced by and secreted by the anterior pituitary gland.

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Aldosterone

Aldosterone, the main mineralocorticoid hormone, is a steroid hormone produced by the zona glomerulosa of the adrenal cortex in the adrenal gland.

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Allele

An allele is a variant form of a given gene.

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Amenorrhea

Amenorrhoea 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 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 then the fetal DNA is examined for genetic abnormalities.

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Andrea Prader

Andrea Prader (December 23, 1919 – June 3, 2001) was a Swiss scientist, physician, and pediatric endocrinologist.

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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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Androstenedione

Androstenedione, or 4-androstenedione (abbreviated as A4 or Δ4-dione), also known as androst-4-ene-3,17-dione, is an endogenous weak androgen steroid hormone and intermediate in the biosynthesis of estrone and of testosterone from dehydroepiandrosterone (DHEA).

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Anovulation

Anovulation is when the ovaries do not release an oocyte during a menstrual cycle.

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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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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 of circulating blood on the walls of blood vessels.

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Body odor

Body odor (American English) or body odour (British English; see spelling differences) is present in animals and humans, and its intensity can be influenced by many factors (behavioral 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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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 mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

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Cortisol

Cortisol is a steroid hormone, in the glucocorticoid class of hormones.

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Cryptorchidism

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

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Cushing's syndrome

Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol.

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Cytochrome P450

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

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Dehydration

In physiology, dehydration is a deficit of total body water, with an accompanying disruption of metabolic processes.

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Dehydroepiandrosterone

Dehydroepiandrosterone (DHEA), also known as androstenolone, is an endogenous steroid hormone.

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Dexamethasone

Dexamethasone is a type of corticosteroid medication.

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Dialysis

In medicine, dialysis (from Greek διάλυσις, diàlysis, "dissolution"; from διά, dià, "through", and λύσις, lỳsis, "loosening or splitting") is the process of removing excess water, solutes and toxins from the blood in those whose native kidneys have lost the ability to perform these functions in a natural way.

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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 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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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 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 found in eukaryotic cells that forms an interconnected network of flattened, membrane-enclosed sacs or tube-like structures 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 (E2), also spelled oestradiol, is an estrogen steroid hormone and the major female sex hormone.

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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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Fludrocortisone

Fludrocortisone, sold under the brand name Florinef among others, is a corticosteroid which is used to treat adrenogenital syndrome, postural hypotension, and adrenal insufficiency.

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Flutamide

Flutamide, sold under the brand name Eulexin among others, is a nonsteroidal antiandrogen (NSAA) which is 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 hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease.

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Genetic recombination

Genetic recombination (aka genetic reshuffling) is the production of offspring with combinations of traits that differ from those found in either parent.

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Glucocorticoid

Glucocorticoids are a class of corticosteroids, which are a class of steroid hormones.

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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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Gonadotropin-releasing hormone

Gonadotropin-releasing hormone (GnRH) also known as gonadoliberin, and by various other names in its endogenous form and as gonadorelin in its pharmaceutical form, is a releasing hormone responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the anterior pituitary.

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Growth hormone therapy

Growth hormone therapy 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 excessive body hair in men and women on parts of the body where hair is normally absent or minimal, such as on the chin or chest in particular, or the face or body in general.

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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 or complex is a gene complex encoding the major histocompatibility complex (MHC) proteins 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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Hydrocortisone

Hydrocortisone, sold under a number of brand names, is the name for the hormone cortisol when supplied as a medication.

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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, also spelled hyperkalaemia, is an elevated level of potassium (K+) in the blood serum.

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Hypoglycemia

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

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Hyponatremia

Hyponatremia is a low sodium level in the blood.

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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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Hypothalamus

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

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Inborn errors 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 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 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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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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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 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, also known as leuprolide, is a manufactured version of a hormone used to treat prostate cancer, breast cancer, endometriosis, uterine fibroids, and early puberty.

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Lordosis behavior

Lordosis behavior, also known as mammalian lordosis (Greek lordōsis, from lordos "bent backward") or presenting, is the naturally occurring body posture for sexual receptivity to copulation present in most mammals including rodents, elephants, and felines.

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Mammal

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

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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 change that occurs in the female reproductive system (specifically the uterus and ovaries) that makes 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

Mineralocorticoids are a class of corticosteroids, which in turn are a class of steroid hormones.

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Newborn screening

Newborn screening is a public health program of screening in 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 is an organ found in the female reproductive system that produces an ovum.

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Ovulation

Ovulation is the release of eggs from the ovaries.

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Pediatric endocrinology

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

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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), an object that resembles a penis, or a mimetic image of an erect penis.

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Placenta

The placenta is an organ that connects the developing fetus to the uterine wall to allow nutrient uptake, thermo-regulation, waste elimination, and gas exchange via the mother's blood supply; to fight against internal infection; and to produce hormones which support pregnancy.

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Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a set of symptoms due to elevated androgens (male hormones) in females.

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Potassium

Potassium is a chemical element with symbol K (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 steroid medication used to treat certain types of allergies, inflammatory conditions, autoimmune disorders, and cancers.

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Prednisone

Prednisone is a synthetic glucocorticoid drug that is mostly used to suppress the immune system.

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Pregnenolone

Pregnenolone (P5), or pregn-5-en-3β-ol-20-one, is an endogenous steroid and precursor/metabolic intermediate in the biosynthesis of most of the steroid hormones, including the progestogens, androgens, estrogens, glucocorticoids, and mineralocorticoids.

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Progesterone

Progesterone (P4) 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 segments of DNA that are related to real genes.

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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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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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Pubic hair

Pubic hair is terminal body hair that is found in the genital area of adolescent and adult humans.

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Renin

Renin (etymology and pronunciation), also known as an angiotensinogenase, is an aspartic protease protein and enzyme secreted by the kidneys that participates in the body's renin–angiotensin–aldosterone system (RAAS)—also known as the renin–angiotensin–aldosterone axis—that mediates the volume of extracellular fluid (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 continuously 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 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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Sensitivity and specificity

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

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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 steroid

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

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Sexual dimorphism

Sexual dimorphism is the condition where the two sexes of the same species exhibit different characteristics beyond the differences in their sexual organs.

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Sexual intercourse

Sexual intercourse (or coitus or copulation) is principally the insertion and thrusting of the penis, usually when erect, into the vagina for 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)

Shock is the state 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 Latin natrium) and atomic number 11.

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Testicle

The testicle or testis is the male reproductive gland in all animals, including humans.

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Testolactone

Testolactone (brand name Teslac) is a non-selective, irreversible, steroidal aromatase inhibitor which is used as an antineoplastic drug to treat advanced-stage breast cancer.

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Testosterone

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

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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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Urinary retention

Urinary retention is an inability to completely empty the bladder.

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Urinary tract infection

A urinary tract infection (UTI) 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 secondary sex organ of the reproductive system in humans and most other mammals.

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Vagina

In mammals, the vagina is the elastic, muscular part of the female genital tract.

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Virilization

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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17α-Hydroxyprogesterone

17α-Hydroxyprogesterone (17α-OHP), or hydroxyprogesterone (OHP), is an endogenous progestogen steroid hormone related to progesterone.

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21-Hydroxylase

Steroid 21-hydroxylase, also called steroid 21-monooxygenase, 21α-Hydroxylase, P450 21A2, and, less commonly 21β-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, 21α-Hydroxylase deficiency, 21α-hydroxylase deficiency.

References

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

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