Androgen insensitivity syndrome

AIS: Androgen Insensitivity Syndrome. There are two forms known as Complete AIS (CAIS) and Partial AIS (PAIS).

amenorrhoea (alternate spelling amenorrhea): abnormal suppression or absence of menstruation

androgens: the general term for any one of a group of hormones which govern the development of the sexual organs and the secondary sexual characteristics of the male

axillary: underarm

carrier: a person that carries, but does not express, a gene for a particular recessive trait http://androgeninsensitivity.blogspot.com/

chromosomes: threadlike strands of DNA and associated proteins in the nucleus of cells that carry the genes and functions in the transmission of hereditary information

endocrinologist: a medical doctor who studies the endocrine system, hormones and disorders of the endocrine system

gonad: an organ that produces gametes (germ cells), especially a testis or ovary

gonadectomy: surgical removal of the gonads (sex glands). In AIS, this is the removal of the testes. http://androgeninsensitivity.blogspot.com/

HRT or Hormone Replacement Therapy: technically this is the replacement of both oestrogen (estrogen) and progestogen by tablet, injection or transdermal patch. Sometimes this term is used even though the only hormone being replaced is oestrogen.

inguinal hernia: A hernia is the protrusion of any organ through the wall of the cavity that holds it. In AIS, an inguinal hernia is the protrusion of the testes through the inguinal canal.

intersex state or intersexualilty: the condition resulting from faulty sex differentiation during the development of the foetus

Mullerian ducts: either of two embryonic tubes that become the uterine tubes, uterus and part of the vagina in the female and that form the prostatic utricle in the male

orchid: a plant that takes its name from the Greek word "orchis" which means "testes." Orchids were so named because of the resemblance of their root bulbs to testes. What emerges from this seemingly masculine looking root, however, is the beautiful flower known as an orchid. http://androgeninsensitivity.blogspot.com/

osteoporosis: a disease in which the bones become extremely porous, are subject to fracture, and heal slowly

phenotype: a person's physical characteristics as determined by the interaction between his or her genotype-quota of genes-and the environment

Wolffian duct: a duct in the embryo that becomes the vas deferens in the male and forms vestigial structures in the female

Undervirilized fertile male syndrome (Mild Androgen Insensitivity Syndrome)

2010-04-14T00:19:00.001-07:00

Some AR mutations with mildly reduced sensitivity cause mild undervirilization. These men have normally formed internal and external genitalia but often a small penis. Androgenic body hair may be sparser than unaffected relatives. Ejaculate volume may be reduced, though sperm density is normal. Few examples of this variant of AIS have been reported, but unlike the previously listed phenotypes, many of these men are fertile. Also, individuals with this condition may experience gynecomastia during puberty.

Androgen Insensitivity Syndrome male or woman

2010-03-18T14:19:00.000-07:00

Androgen Insensitivity Syndrome (AIS) video from youtube. Very good video about AIS disease . it is a genetical and complicate disease.

another interesting video about AIS : http://abcnews.go.com/video/playerIndex?id=5544655

Androgen Insensitivity Syndrome video

2010-03-18T14:17:00.000-07:00

Androgen Insensitivity Syndrome information.. Androgen insensitivity video

Androgen insensitivity Links

2008-11-29T05:45:00.000-08:00

Links for Androgen insensitivity informatin: at this web page you will see a list of links to additional sites related to Androgen Insensitivity Syndrome and more information about the syndrome.

Human Sex-differentiation Group in Lübeck
Standford.edu
Emedicine Article
Geneclinics

Types of androgens

2008-10-23T05:48:00.001-07:00

A group of androgens, the "adrenal androgens" include all steroids to 19 carbon atoms, synthesized by the adrenal cortex, ie the outer portion of the adrenal gland, which operate as weak steroids or precursors steroids, including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S) and androstenedione.

Apart testosterone, androgens include:
The dehydroepiandrosterone (DHEA): a steroid hormone produced from cholesterol in the adrenal cortex, which is the main precursor of natural estrogen. DHEA is also known déhydroisoandrostérone or déhydroandrostérone.
The androstenedione (andro): an androgenic steroid that is produced by the testes, adrenal cortex and ovaries. While androstenedione is converted metabolically testosterone and other androgens, they are also the structure of mother estrone. The use of androstenedione as a supplement to the sport or the club was banned by the International Olympic Committee and other sports organizations.

The androstenediol: steroid metabolite that is supposed to act as the primary regulator of gonadotropin secretion.
The androsterone: chemical byproduct created during the degradation of androgens, or derived from progesterone, which also exerts effects virilization minors, but with one-seventh of the intensity of testosterone. It is present in quantities roughly equal in plasma and urine of men and women.

Dihydrotestosterone (DHT): a metabolite of testosterone which is a more potent androgen in that it binds more strongly to the androgen receptor.

what are testosterone and androgen?

2008-10-23T05:46:00.000-07:00

Androgen

Androgen is the generic term for 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 the androgen receptor. This also includes the activity of male secondary sexual organs and the development of secondary sexual characteristics. Androgens, which were discovered in 1936, also called androgen hormones. " Androgens are also the origin of anabolic steroids. They are also the precursor of all estrogens, the female sex hormones. The main androgen, which is also the best known is "testosterone".

development of mammals

2008-10-23T05:45:00.000-07:00

During the development of mammals are the sex glands (gonads) in the first place, both the ovary and testis to develop [1]. When people from around the 4th Week, the facilities of the sex glands in the intermediate mesoderm in the vicinity of the developing kidneys available. Week 6 in some form genital epithelial strands within the developing testes and take the gametes (reproductive cells) when they walk in on the sex glands. In men control certain Y-chromosome gene, SRY, in particular the development of the male phenotype, including the transformation of the early bipotentialen sex gland in the testicles. In men invade the genital strands entirely in the evolving sex glands On.

Until Week 8 of the humane Fetalentwicklung appear Leydig cells differentiating itself in the sex glands of the man. From the mesoderm derived epithelial cells of the genital strands in the forming testes develop into the Sertoli cells, which have the function and the formation of sperm cells to support it. Between the Hodenkanälchen found a smaller population of non-epithelial cells, these cells are the androgen-producing Leydig cells. The Leydig cells can be used as the producers of androgens be used as paracrine hormones which Sertoli cells to be needed for the production of sperm to support it. Soon after their differentiation begin the Leydig cells, androgens to form the Maskulinisierung the evolving male fetuses are needed (including the formation of penis and scrotum). Under the influence of androgens are remnants of the Urniere mesonephros, which Wolff's corridors, the epididymis epididymis, vas deferens deferent duct and the seeds of bubbles. This effect of androgens is a hormone made by the Sertoli cells AMH supports the development of embryonic Müller courses to Eileitern and other tissues of the female reproductive system in male embryos prevented. AMH and androgens act together and allowing the normal migration of the testicles into the scrotum.

Before the formation of the Pituitary LH through the embryo, which some in the eleventh to twelfth week, promotes human chorionic gonadotropin (hCG) the differentiation of Leydig cells and the formation of androgens. The Androgenwirkung in the target tissues often involves the conversion of testosterone to 5α-dihydrotestosterone (DHT).

Androgens types

2008-10-23T05:44:00.000-07:00

A subgroup of androgens, adrenal androgens, includes all 19-Kohlenstoffsteroide by the adrenal cortex are formed, namely the outer portion of the adrenal gland, and the weak as steroids or steroid precursors act, including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S) and Androstendion.

Besides testosterone are among the other androgens:
Dehydroepiandrosterone (DHEA)
a steroid hormone produced from cholesterol in the adrenal cortex is formed, which is the main precursor of natural oestrogens is. DHEA is also known as Dehydroisoandrosteron or Dehydroandrosteron means.
Androstendion ( "Andro")
an androgenic steroid, by the testes, adrenal cortex and the ovaries. Androstendione are metabolically testosterone and other androgens converted, but they are also the main structure of Estrone. The application of Androstendion as a dietary supplement to improve performance in sports or bodybuilding was approved by the International Olympic Committee and other sports organizations prohibited.
Androstendiol
the steroid metabolite that is probably as the main regulator of Gonadotropinsekretion effect.
Androsterone
a chemical byproduct that is the reduction of androgens arises or comes from progesterone, and even slight effects maskulinisierende exercises, but only with the seventh of the intensity of testosterone. It is found in roughly equal amounts in plasma and urine of men and women.
Dihydrotestosterone (DHT)
a metabolite of testosterone, is indeed a potent androgen, as it binds more androgen.

Androgens

2008-10-23T05:42:00.000-07:00

ıt (from Greek andro "male"; gen "producing") are sex hormones, which virilization (from the Latin virilis "male") have effect.

Structural formula of Androstan
(10β, 13β-dimethyl-gonan).

Their basic structure is the Androstan (10β, 13β-dimethyl-gonan). Androgen is the generic term for any natural or synthetic substance, usually a steroid hormone, the development and maintenance of male characteristics in vertebrates have a binding to androgen stimulation or controlled. This includes the activity of the accessory male sex organs and the development of male secondary sexual characteristics. Androgens, which were first discovered in 1936, are also known as androgen hormones or Testoide means. Androgens are also the original anabolic steroids. They are also precursors of all oestrogens, the female sex hormones. The principal and best-known androgen is testosterone.

AIS (Androgen-Insensitivity Syndrome)

2008-08-28T01:47:00.000-07:00

AIS (Androgen-Insensitivity Syndrome) Syndrome of the androgen insensitivity Congenital condition that a person who is genetically male (XY) did not react during fetale the testosterones of masculinization, and therefore has a female body outside (normal breasts, etc.). Although their vagina is too short to allow satisfactory sexual relations (an operation can be carried out in the middle of the adolescence). These people did not, however, an internal female genital system, and lack of menstruation and are not fruitful.

What is Androgen?

2008-07-28T04:56:00.000-07:00

Androgen definition on wikipedia. online : Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. This includes the activity of the accessory male sex organs and development of male secondary sex characteristics. Androgens, which were first discovered in 1936, are also called androgenic hormones or testoids. Androgens are also the original anabolic steroids. They are also the precursor of all estrogens, the female sex hormones. The primary and most well-known androgen is testosterone.

Androgen insensitivity syndrome

2008-05-18T23:16:00.000-07:00

Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. It has also been called androgen resistance in the medical literature. The nature of the resulting problem varies according to the structure and sensitivity of the abnormal receptor. Most of the forms of AIS involve variable degrees of undervirilization and/or infertility in XY persons of either gender. A woman with complete androgen insensitivity syndrome (CAIS) has a female external appearance despite a 46XY karyotype and undescended testes, a condition termed testicular feminization in the past.

Major changes in the understanding and management of the various forms of AIS have occurred since 1990. Laboratory research has greatly expanded our understanding of the molecular mechanisms of the clinical features, including a rare neuromuscular disorder. More importantly, patient advocacy groups for AIS and other intersex conditions have increased public awareness of these disorders, helped revise the understanding of gender identity, emphasized the value of accurate and sophisticated information for patients, and induced physicians to re-evaluate the effectiveness of the surgical corrections attempted in past decades. Surgery is increasingly seen as an elective option even for the more ambiguous conditions.

What is Androgen?

2008-03-05T11:45:00.000-08:00

Androgen is the generic term for any natural or synthetic compound
it is usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors.
This includes the activity of the accessory male sex organs and development of male secondary sex characteristics.
Androgens, which were first discovered in 1936, are also called androgenic hormones or testoids.
Androgens are also the original anabolic steroids. They are also the precursor of all estrogens, the female sex hormones.
The primary and most well-known androgen is testosterone.

Test and Treatment of The Disease Syndrome

2008-01-20T08:04:00.004-08:00

Complete AIS:
-Can not use Androgens at all
-Looks female
-Prevents the development of the penis and other male body parts
-No uterus
-Sparse armpit and pubic hair .
-At puberty,female secondary sex characteristics(e.g. Breasts develop,but menstruation and fertility do not)

Partial AIS(Reifenstein Syndrome):
Normal female,Both male and female or Normal male sexual characteristics
Associated with hypospadias
Gynecomastia
Cryptorchidism
Included in the broad category of incomplete AIS is infertile male syndrome

Mild AIS:
A)Appears male
B)Often infertile
C)Tend to develop female breasts at puberty

How common is AIS?
-CAIS affects 2 to5 per 100.000 male births
-CAIS is rarely discovered during childhood
-PAIS is at least as common as CAIS
-MAIS is much less common
-Both PAIS and MAIS are discovered during childhood

Signs:
-Vagina present but no cervix or uterus
-Normal female breast development
-Testes in the inguinal canal,labia or abdomen
-Inguinal hernia with palpable gonad

Tests for this disease:
Make special hormone tests.
XY karyotyping (the presence of one X and one Y SEX chromosome indicates male gender)
Sonogram-shows an absent uterus or intra abdominal testes
Androgen receptor studies may confirm the syndrome

Treatment of the illness:
-The testis may be removed
-Estrogen replacement after puberty
-Support of gender identity
-Treatment and gender assignment can be a very comlex issue and must be individualized with great care

What genes are related to AIS?

2008-01-20T08:04:00.003-08:00

The Androgen Receptor gene (AR)
Affects AR
AR affects hormones(eg.testosterone)
Regulating hair growth and sex drive
The Androgen Receptor gene (AR)
Affects AR
AR affects hormones(eg.testosterone)
Regulating hair growth and sex drive

How many types of AIS?
Depending on the level of AI ,an affected person’s sexual characteristics can vary from mostly female to male
1)Complete AIS
2)Incomplete AIS
A)Partial AIS
B)Mild AIS

What is androgen insensitivity syndrome(AIS)?

2008-01-20T08:04:00.002-08:00

-Genetically male,phenenotipically female
Resistant to male hormones called androgens
The person has some or all of the physical characteristics of a woman,despite having the genetic make up of a man
May have female sexual characteristics or signs of both male and female sexual development (hermaphroditism).

-Linked to mutations in Androgen Receptor
-Located to mutations in androgen receptor
-Located at Xq11-12(on the Xchromosome)
-X linked recessive trait
-Minimal or no effects in 46,XX people.

What is Androgen Receptor?

1Large protein of at least 910 amino acids
2Binds the androgen ,zinc finger portion that binds to DNA in a steroid sensitive areas of nuclear 3hromatin
4Area that controls transcription
Schematic of AIS affecting an androgen Receptor:

Questions About Androgen insensitivity syndrome

2008-01-20T08:04:00.001-08:00

What is Androgen Insensitivity syndrome?
What is Androgen Receptor?
What genes are related to AIS?
How many types of AIS?
How common is AIS?
Signs,Tests, Treatment