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5α-Reductase deficiency

Index 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. [1]

58 relations: Allopregnanolone, Amenorrhea, Androgen, Anti-Müllerian hormone, Carver (Nip/Tuck), Clitoris, Clitoromegaly, Cryptorchidism, Dihydrotestosterone, Disease, Disorders of sex development, Dominance (genetics), Dominican Republic, Enzyme, Fallopian tube, Fetus, Founder effect, Gender identity, Gene, Gene flow, Genital tubercle, Gonad, Hirsutism, Hypertrichosis, Inborn errors of steroid metabolism, Intersex, Intersex Human Rights Australia, Jeffrey Eugenides, Las Salinas, Male, Mesonephric duct, Micropenis, Middlesex (novel), Mutation, Neurosteroid, Nip/Tuck, Papua New Guinea, Penis, Population bottleneck, Pseudohermaphroditism, Puberty, Sex organ, Sexual intercourse, Spanish language, Sperm, SRD5A1, SRD5A2, Testicle, Testicular cancer, Testosterone, ..., Tetrahydrodeoxycorticosterone, The BMJ, Turkey, Urethra, Uterus, Virilization, Y chromosome, 5α-Reductase. Expand index (8 more) »

Allopregnanolone

Allopregnanolone, also known as 5α-pregnan-3α-ol-20-one or 3α,5α-tetrahydroprogesterone (3α,5α-THP), as well as brexanolone, is an endogenous inhibitory pregnane neurosteroid.

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Amenorrhea

Amenorrhoea is the absence of a menstrual period in a woman of reproductive age.

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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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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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Carver (Nip/Tuck)

The Carver is a fictional character on the television show Nip/Tuck. Introduced during the second season, he became the primary antagonist of the third season.

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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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Clitoromegaly

Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though deliberately induced clitoris enlargement as a form of female genital body modification is achieved through various uses of anabolic steroids, including testosterone, and may also be referred to as clitoromegaly. Clitoromegaly is not the same as normal enlargement of the clitoris seen during sexual arousal.

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Cryptorchidism

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

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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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Disease

A disease is any condition which results in the disorder of a structure or function in an organism that is not due to any external injury.

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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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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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Dominican Republic

The Dominican Republic (República Dominicana) is a sovereign state located in the island of Hispaniola, in the Greater Antilles archipelago of the Caribbean region.

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Enzyme

Enzymes are macromolecular biological catalysts.

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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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Fetus

A fetus is a stage in the prenatal development of viviparous organisms.

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Founder effect

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.

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Gender identity

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

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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 flow

In population genetics, gene flow (also known as gene migration or allele flow) is the transfer of genetic variation from one population to another.

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Genital tubercle

A genital tubercle or phallic tubercle is a body of tissue present in the development of the reproductive system.

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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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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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Hypertrichosis

Hypertrichosis is an abnormal amount of hair growth over the body.

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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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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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Jeffrey Eugenides

Jeffrey Kent Eugenides (born March 8, 1960) is an American novelist and short story writer.

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Las Salinas

Las Salinas is a town in the Barahona province of the Dominican Republic.

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Male

A male (♂) organism is the physiological sex that produces sperm.

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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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Micropenis

Micropenis is an unusually small penis.

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Middlesex (novel)

Middlesex is a Pulitzer Prize-winning novel by Jeffrey Eugenides published in 2002.

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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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Neurosteroid

Neurosteroids, also known as neuroactive steroids, are endogenous or exogenous steroids that rapidly alter neuronal excitability through interaction with ligand-gated ion channels and other cell surface receptors.

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Nip/Tuck

Nip/Tuck is an American medical drama television series created by Ryan Murphy that aired on FX in the United States from July 22, 2003 to March 3, 2010.

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Papua New Guinea

Papua New Guinea (PNG;,; Papua Niugini; Hiri Motu: Papua Niu Gini), officially the Independent State of Papua New Guinea, is an Oceanian country that occupies the eastern half of the island of New Guinea and its offshore islands in Melanesia, a region of the southwestern Pacific Ocean north of Australia.

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Penis

A penis (plural penises or penes) is the primary sexual organ that male animals use to inseminate sexually receptive mates (usually females and hermaphrodites) during copulation.

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Population bottleneck

A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events (such as earthquakes, floods, fires, disease, or droughts) or human activities (such as genocide).

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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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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 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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Spanish language

Spanish or Castilian, is a Western Romance language that originated in the Castile region of Spain and today has hundreds of millions of native speakers in Latin America and Spain.

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Sperm

Sperm is the male reproductive cell and is derived from the Greek word (σπέρμα) sperma (meaning "seed").

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SRD5A1

3-oxo-5α-steroid 4-dehydrogenase 1 is an enzyme that in humans is encoded by the SRD5A1 gene.

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SRD5A2

3-oxo-5α-steroid 4-dehydrogenase 2 is an enzyme that in humans is encoded by the SRD5A2 gene.

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Testicle

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

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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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Tetrahydrodeoxycorticosterone

Tetrahydrodeoxycorticosterone (abbreviated as THDOC; 3α,21-dihydroxy-5α-pregnan-20-one), also referred to as allotetrahydrocorticosterone, is an endogenous neurosteroid.

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The BMJ

The BMJ is a weekly peer-reviewed medical journal.

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Turkey

Turkey (Türkiye), officially the Republic of Turkey (Türkiye Cumhuriyeti), is a transcontinental country in Eurasia, mainly in Anatolia in Western Asia, with a smaller portion on the Balkan peninsula in Southeast Europe.

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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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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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Y chromosome

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

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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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Redirects here:

5 alpha reductase 2 deficiency, 5 alpha reductase deficiency, 5-ARD, 5-Alpha-reductase deficiency, 5-alpha Reductase Deficiency, 5-alpha reductase deficiency, 5-alpha-reductase deficency, 5-alpha-reductase deficiency, 5-ards, 5ARD, 5α-Reductase type 2 deficiency, 5α-Reductase type II deficiency, 5α-reductase deficiency, 5α-reductase type 2 deficiency, 5α-reductase type II deficiency, Congenital 5α-reductase deficiency, Guevedoce, Guevedoces, Guevedoche, Guevodoces, Güevedoce, Güevedoces, Huevo a los doce, Kwolu-aatmwol, Machihembra, Maria mario syndrome, Maria-mario syndrome, Mario maria syndrome, Mario-maria syndrome.

References

[1] https://en.wikipedia.org/wiki/5α-Reductase_deficiency

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