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Topic: Androgen insensitivity syndrome

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  Androgen insensitivity syndrome - Wikipedia, the free encyclopedia
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.
Understanding the effects of androgen insensitivity begins with an understanding of the normal effects of testosterone in male and female development.
As puberty progresses, later secondary sex characteristics in males are nearly entirely due to androgens (continued growth of the penis, maturation of spermatogenic tissue and fertility, beard, deeper voice, masculine jaw and musculature, body hair, heavier bones).
en.wikipedia.org /wiki/Androgen_insensitivity_syndrome   (4704 words)

 Androgen insensitivity syndrome: Encyclopedia of Genetic Disorders
Androgen insensitivity syndrome is a genetic condition where affected people have male chromosomes and male gonads (testicles).
Androgen insensitivity syndrome (AIS), also known as testicular feminization, is one of the most common conditions where the chromosome sex and gonadal sex do not agree with the phenotypic sex.
Androgen insensitivity syndrome is a genetic condition that results from mutations (alterations) of the gene for the androgen receptor.
health.enotes.com /genetic-disorders-encyclopedia/androgen-insensitivity-syndrome   (2070 words)

 Lifespan's A - Z Health Information Library - Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS) is when a person has one X and one Y sex chromosome (making them genetically male), but is resistant to androgens (male hormones).
The syndrome is caused by various genetic mutations on the X chromosome.
If the androgen insensitivity is complete, this prevents the development of the penis and other male body parts.
www.lifespan.org /adam/healthillustratedencyclopedia/1/001180.html   (656 words)

 BookRags: Androgen Insensitivity Syndrome Summary
Androgen insensitivity syndrome (AIS) is a disorder caused by mutation of the gene for the androgen receptor.
The extent of the syndrome ranges from complete androgen insensitivity and development of normal external (but not internal) female sexual anatomy, to partial insensitivity, with altered or ambiguous male or female genitals, to mild insensitivity, with normal male genitals, enlarged breasts, and possibly impotence.
In this form of the syndrome, the XY person is born phenotypically female, and from birth is raised as a girl.
www.bookrags.com /research/androgen-insensitivity-syndrome-gen-01   (1673 words)

 Androgen insensitivity syndrome - Genetics Home Reference
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty.
Mutations in the AR gene cause androgen insensitivity syndrome.
Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.
ghr.nlm.nih.gov /condition=androgeninsensitivitysyndrome   (763 words)

 Testicular Feminization Syndrome (Androgen Insensitivity Syndrome) - New Treatments, May 2, 2006
Androgen insensitivity syndrome is the most studied of the disorders of sexual differentiation testicular feminization syndrome, androgen insensitivity syndrome.
The androgen receptor in this condition is either absent or unable to bind androgen or transduce the androgenic signal to target genes.
Partial androgen insensitivity syndrome (PAIS) and 17beta-hydroxysteroid dehydrogenase deficiency (a defect in testosterone biosynthesis) are next in order of prevalence, followed by a group of very rare conditions (11beta-hydroxylase deficiency, 3beta-hydroxysteroid dehydrogenase deficiency, 5alpha-reductase deficiency, 17alpha-hydroxylase deficiency, placental aromatase deficiency, and LH receptor mutations).
www.ccspublishing.com /journals4a/testicular_feminization_syndrome.htm   (700 words)

 What is AIS?
Androgen Insensitivity Syndrome (AIS) is one of a number of biological intersex conditions.
The androgen receptor gene was cloned and sequenced in 1988.
Migeon et al.: Studies of the locus for androgen receptor:localization on the human X and evidence for homology with the Tfm locus in the mouse.
www.medhelp.org /www/ais/21_OVERVIEW.HTM   (4382 words)

 Androgen Insensitivity Syndrome
The mutation detection rate is greater than 95% in individuals with complete androgen insensitivity; the mutation detection rate for individuals with milder phenotypes (i.e., partial androgen insensitivity and mild androgen insensitivity) is not known.
The entire N-terminal portion of the androgen receptor (~537 aa) is encoded by exon 1, the DNA-binding domain (aa 557-616) by exons 2 and 3, the bipartite nuclear localization signal (aa 617-636) by exons 3 and 4, and the androgen-binding domain (aa 645-919) by exons4-8.
Once activated by binding to androgen, it collaborates with other coregulatory proteins (some also DNA binding, others not) to achieve vectorial control over the rate of transcription of an androgen target gene that is under the influence of a nearby promoter.
www.geneclinics.org /profiles/androgen/details.html   (4796 words)

 Androgen Insensitivity Syndrome - WrongDiagnosis.com
Androgen Insensitivity Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Androgen Insensitivity Syndrome, or a subtype of Androgen Insensitivity Syndrome, affects less than 200,000 people in the US population.
With a diagnosis of Androgen Insensitivity Syndrome, it is also important to consider whether there is an underlying condition causing Androgen Insensitivity Syndrome.
www.wrongdiagnosis.com /a/androgen_insensitivity_syndrome/intro.htm   (874 words)

 Androgen insensitivity syndrome : AIS
Androgen insensitivity syndrome (AIS) is a sex-linked mutation which causes a lack of sensitivity to androgens, the male sex hormones.
Such individuals tend to be rather tall and muscular and, curiously, the syndrome often results in an enlargening of the breasts.
Partial AIS males will respond to limited amounts or types of androgens, while complete androgen insensitivity syndrome (CAIS) will result in a biological male who will appear fully female and have a vagina, but will not be able to reproduce due to the lack of female gonads and internal sex organs.
www.fastload.org /ai/AIS.html   (320 words)

 Androgen insensitivity syndrome and Klinefelter's syndrome
AIS is an inherited condition that is propagated as a recessive X-linked single gene syndrome that can manifest differently in children of the same parents; one child in a family can be raised as a boy, whereas another can be raised as a girl [12].
The value of androgens for those who have AIS probably is related to the exact nature of the mutation that is involved [89] because it helps a few people but not most.
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.
www.hawaii.edu /PCSS/online_artcls/intersex/AndrogenInsensitivity.htm   (8055 words)

 Androgen insensitivity syndrome, complete definition - Medical Dictionary definitions of popular medical terms   (Site not responding. Last check: 2007-10-22)
The complete androgen insensitivity syndrome is usually detected at puberty when a girl should but does not begin to menstruate.
The gene for the syndrome is on the X chromosome in band Xq11-q12.
The name "complete androgen insensitivity syndrome" is scientifically accurate and is more satisfactory to patients and their families.
www.medterms.com /script/main/art.asp?articlekey=14428   (297 words)

 Androgen insensitivity syndrome - partial androgen insensitivity syndrome forum
Since a 46,XY person has only a single androgen insensitivity syndrome pictures X chromosome, a deleterious mutation of the androgen receptor gene on the only X chromosome can cause any of several forms of androgen insensitivity syndrome.
In males, the major pubertal changes attributable to estradiol are growth partial androgen insensitivity syndrome forum acceleration, epiphyseal closure, termination of growth, and (if it occurs) gynecomastia.
Androgen receptor mutations have also been discovered in men with normal internal and external genitalia but infertility define androgen insensitivity syndrome due to absence of sperm (azoospermia).
www.medicalgeo.com /Med-Diseases-Am---As/Androgen-insensitivity-syndrome.html   (4763 words)

 Androgen Insensitivity Syndrome, Partial
Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy.
Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais).
In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).
www.webmd.com /hw/sexual_conditions/nord844.asp   (515 words)

 Androgen Insensitivity Syndrome
Marjorie Greenfield, M.D. Androgen insensitivity syndrome is one condition in which a girl doesn't start menstruation when expected.
Androgen insensitivity syndrome is a genetic condition carried on the X chromosome.
Girls and women with androgen insensitivity syndrome, and their families, can find terrific support and information at www.medhelp.org/www/ais.
www.drspock.com /article/0,1510,6229,00.html   (1047 words)

 Androgen insensitivity syndrome - Susan's Place Transgender Wiki
Androgen insensitivity syndrome (AIS) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor.
Since a 46,XY person has only a single X chromosome, a mutation of the single androgen receptor gene may cause a problem if it produces a receptor with reduced ability to respond to androgens.
Each molecule consists of a portion which binds the androgen, a zinc-finger portion that binds to DNA in steroid sensitive areas of nuclear chromatin, and an area that controls transcription.
wiki.susans.org /index.php/Androgen_insensitivity_syndrome   (4610 words)

 Introduction: Androgen Insensitivity Syndrome - CureResearch.com
- Prevalence and Incidence of Androgen Insensitivity Syndrome
Researching symptoms of Androgen Insensitivity Syndrome: Further information about the symptoms of Androgen Insensitivity Syndrome is available including a list of symptoms of Androgen Insensitivity Syndrome, other diseases that might have similar symptoms in differential diagnosis of Androgen Insensitivity Syndrome, or alternatively return to research other symptoms in the symptom center.
Statistics and Androgen Insensitivity Syndrome: Various sources and calculations are available in statistics about Androgen Insensitivity Syndrome, prevalence and incidence statistics for Androgen Insensitivity Syndrome, and you can also research other medical statistics in our statistics center.
www.cureresearch.com /a/androgen_insensitivity_syndrome/intro.htm   (326 words)

 Fact Sheet: Understanding Androgen Insensitivity Syndrome   (Site not responding. Last check: 2007-10-22)
A gene on the X chromosome controls tissue androgen sensitivity, and AIS is an X-linked recessive condition, inherited down the maternal line (or, in an estimated one third of cases, results from a spontaneous mutation).
There are two forms; a complete form (CAIS) where the tissues are completely insensitive to androgens, and a partial or incomplete form (PAIS) where the tissues are in/sensitive to varying extents forming a spectrum of genital appearances.
Although the pre-adult risk of cancer is too small to justify it, gonadectomy is sometimes done in infancy or childhood, usually with the intention of avoiding a psychological crisis arising from explaining the need, later on, for such an operation.
sixtyminutes.ninemsn.com.au /sixtyminutes/stories/2000_06_25/story_186.asp   (1746 words)

 ANDROGEN INSENSITIVITY SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes ...
This condition is caused by a genetic defect in the androgen (male hormone) receptor, which enables the male hormone, testosterone, to have its affect.
In Partial Androgen Insensitivity, the genetic abnormality in the androgen receptor produces an incomplete block of male hormone action.
In this case, the child is usually born with ambiguous genitalia and appears a poorly virilised male.
www.cafamily.org.uk /Direct/a48.html   (930 words)

 Partial Androgen Insensitivity Syndrome (PAIS) | Intersex Society of North America   (Site not responding. Last check: 2007-10-22)
The extent of androgen insensitivity in 46 XY individuals is quite variable, even in a single family.
Partial androgen insensitivity typically results in “ambiguous genitalia.”; The clitoris is large or, alternatively, the penis is small and hypospadic (these are two ways of labeling the same anatomical structure).
Partial androgen insensitivity may be quite common, and has been suggested as the cause of infertility in many men whose genitals are of typically male appearance.
www.isna.org /faq/conditions/pais   (696 words)

 eMedicine - Androgen Insensitivity Syndrome : Article by Bruce E Wilson, MD
The significance of the androgen effect's absence increasingly is recognized for its influence on the maturing brain (and other systems) in terms of developing adult gender identity.
History: Most cases of androgen insensitivity syndrome (AIS) are identified in the newborn period by the presence of inguinal masses, which later are identified as testes during surgery.
DHT or androgen analogues that cannot be aromatized to estrogen appear to be the treatments of choice.
www.emedicine.com /ped/topic2222.htm   (5023 words)

 Partial Androgen Insensitivity Syndrome - New Treatments, May 2, 2006   (Site not responding. Last check: 2007-10-22)
Partial androgen insensitivity syndrome has the same phenotype as 17beta-hydroxysteroid dehydrogenase deficiency, but the hCG-stimulated ratio of androstenedione to testosterone is normal, and the levels of testosterone reached are normal or high hypospadia.
Therefore, PAIS frequently is a presumptive diagnosis rather than a precise one partial androgen insensitivity syndrome, testicular feminization syndrome, partial testicular feminization syndrome hypospadia hypospadias.
Patients with the persistent mullerian duct syndrome have normal male genitalia, and the testes are usually undescended.
www.ccspublishing.com /journals4a/partial_androgen_insensitivity_syndrome.htm   (383 words)

 AllRefer Health - Reifenstein Syndrome (Incomplete Male Pseudohermaphroditism, Partial Androgen Insensitivity Syndrome)
Reifenstein syndrome is an inherited disorder that causes underdevelopment of the male reproductive tract and sexual dysfunction in males, which includes an inability to make sperm, undescended testicles (the testicles do not descend into the scrotum), and development of breasts.
Reifenstein syndrome is one of a group of diseases in which the body is unable to respond appropriately to the male sex hormones (androgens), which include testosterone.
In this genetic disease, the affected gene codes for the androgen receptor, which is the key protein that allows cells to respond to androgens.
health.allrefer.com /health/reifenstein-syndrome-info.html   (445 words)

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