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Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

Index 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). [1]

38 relations: Adrenal gland, Adrenal insufficiency, Adrenocorticotropic hormone, Androstenedione, Biosynthesis, Congenital adrenal hyperplasia, Corticosteroid, Cortisol, Dehydroepiandrosterone, Disorders of sex development, Enzyme, Estrogen, Fertility, Fludrocortisone, Gene, Hirsutism, HSD3B1, HSD3B2, Hypospadias, Inborn errors of steroid metabolism, Intersex, Liver, Mineralocorticoid, Placenta, Pregnenolone, Progesterone, Protein isoform, Pseudohermaphroditism, Puberty, Scrotum, Sex steroid, Testicle, Testosterone, Testosterone (medication), Virilization, 17α-Hydroxypregnenolone, 17α-Hydroxyprogesterone, 3β-Hydroxysteroid dehydrogenase.

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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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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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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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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Corticosteroid

Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones.

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Cortisol

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

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Dehydroepiandrosterone

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

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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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Enzyme

Enzymes are macromolecular biological catalysts.

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Estrogen

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

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Fertility

Fertility is the natural capability to produce offspring.

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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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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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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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HSD3B1

HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1.

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HSD3B2

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.

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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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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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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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Liver

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.

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Mineralocorticoid

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

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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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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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Protein isoform

A protein isoform, or "protein variant" is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences.

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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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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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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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Testicle

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

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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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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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17α-Hydroxypregnenolone

17α-Hydroxypregnenolone is a pregnane (C21) steroid that is obtained by hydroxylation of pregnenolone at the C17α position.

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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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3β-Hydroxysteroid dehydrogenase

3β-Hydroxysteroid dehydrogenase/Δ5-4 isomerase (3β-HSD) is an enzyme that catalyzes the biosynthesis of progesterone from pregnenolone, 17α-hydroxyprogesterone from 17α-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone (DHEA) in the adrenal gland.

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Redirects here:

3 beta hydroxysteroid dehydrogenase deficiency, 3β-Hydroxysteroid dehydrogenase 2 deficiency, 3β-Hydroxysteroid dehydrogenase II deficiency, 3β-Hydroxysteroid dehydrogenase deficiency, 3β-Hydroxysteroid dehydrogenase type 2 deficiency, 3β-Hydroxysteroid dehydrogenase type II deficiency, 3β-hydroxysteroid dehydrogenase 2 deficiency, 3β-hydroxysteroid dehydrogenase II deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 3β-hydroxysteroid dehydrogenase type 2 deficiency, 3β-hydroxysteroid dehydrogenase type II deficiency, 5 beta-reductase deficiency, Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

References

[1] https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency

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