Process androgen insensitivity syndrome. Medical search. Frequent questions

This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. (medscape.com)
Objective: To report the rare case of a patient with Complete Androgen Insensitivity Syndrome (CAIS) with Klinefelter Syndrome (KS) (47, XXY) presenting a Sertoli/Leydig cell tumor discovered during the gonadectomy. (remedypublications.com)
I was born with CAIS, Complete Androgen Insensitivity Syndrome. (blogspot.com)
These results corroborate other evidence that androgen affects sexual orientation orientation, such as sexual attraction to males in persons with CAIS and sexual attraction to females in women with CAIS [Complete Androgen Insensitivity Syndrome] and prenatally normal males whose gender was reassigned near birth. (zmescience.com)
The first major news was that the MTV network introduced one of the characters in their teen drama Faking It as being born with Complete Androgen Insensitivity Syndrome (CAIS). (skepchick.org)

mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
Variants that only slightly reduce the activity of the receptor cause mild androgen insensitivity syndrome. (medlineplus.gov)

Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. (wikipedia.org)
no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
Mutation analysis of the androgen receptor gene is now commercially available. (medscape.com)
The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor ( AR ) gene. (medscape.com)
The AR gene provides instructions for making a protein called an androgen receptor. (medlineplus.gov)
The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. (medlineplus.gov)
By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. (medlineplus.gov)
Some variants lead to an abnormally short version of the androgen receptor protein, while others result in the production of an abnormal receptor that cannot bind to androgens or to DNA. (medlineplus.gov)
Variants that eliminate the function of the androgen receptor cause complete androgen insensitivity syndrome. (medlineplus.gov)
Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein damages nerve cells. (medlineplus.gov)
Researchers believe that a fragment of the androgen receptor protein containing the CAG repeats accumulates within these cells and interferes with normal cell functions. (medlineplus.gov)
CSGV was identified in the androgen receptor genes in all breast tumors examined. (oaepublish.com)
The presence or absence of androgens acting via the androgen receptor plays a key role therein. (pediatricendoreviews.com)
At the single cell level, androgens cause reversible short term changes of gene transcription by activating the androgen receptor. (pediatricendoreviews.com)
A syndrome characterized by hypogonadism as a result of a defect in androgen receptor. (mhmedical.com)
cultured fibroblast from genital skin show reduced levels of androgen receptor present with decreased cytoplasmic dihydrotestosterone binding capacity. (mhmedical.com)
In a male-specific DSD termed Persistent Müllerian duct syndrome (Genetic and Rare Diseases Information Center, 2020), the Müllerian duct doesn't regress, due to the absence of AMH or its receptor. (can-sg.org)

The condition results in the partial or complete inability of cells to respond to androgens. (wikipedia.org)
Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)
It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (medscape.com)
While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
Genetic changes that significantly reduce but do not eliminate the receptor's activity cause partial androgen insensitivity syndrome. (medlineplus.gov)
I discovered then that I had been diagnosed with partial androgen insensitivity syndrome (PAIS)," Pagonis said. (thepinknews.com)
If there is some type of partial response to androgens, it's referred to as partial androgen insensitivity. (ucipediatricurology.com)
Underlying defect is the partial deficiency of androgen receptors (AR), causing partial androgen resistance, and not because of a lack of androgen synthesis. (mhmedical.com)
The phenotype is quite variable as a consequence of the partial sensitivity of the androgen receptors. (mhmedical.com)

There are many examples such as Klinefelter Syndrome, Androgen Insensitivity Syndrome, and Congenital Adrenal Hyperplasia. (unomaha.edu)
Embryos can have an extra sex chromosome, as seen in Klinefelter syndrome, which is characterized by XXY karyotype. (mdedge.com)

Embryos can also be devoid of a sex chromosome, as observed in Turner's syndrome, which is characterized by an XO karyotype. (mdedge.com)
Primary ovarian insufficiency is primarily idiopathic, but it can also be seen in association with chromosomal and genetic defects, including Turner syndrome (45,X karyotype) and FMR1 premutation. (lecturio.com)
Patients with Androgen Insensitivity Syndrome have a karyotype of 46 XY. (americasboardreview.com)

Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. (medlineplus.gov)
In contrast, a delay in puberty may be caused by problems with testosterone secretion due to hypothalamic, pituitary, or testicular insufficiency or to end-organ androgen insensitivity. (medscape.com)
Having AIS means my body cannot process hormones such as testosterone, so despite having typically male chromosomes, I was born feminine and identify as female. (archermagazine.com.au)
My body is completely insensitive to, can't use or process androgens like testosterone. (blogspot.com)
The first possibility is that a boy has a genetic mutation which makes his body tissues insensitive to testosterone - a condition known as androgen insensitivity . (the-penis.com)
There are a number of mutations which vary in severity and lead to varying degrees of androgen insensitivity - obviously, the greater the resistance to testosterone, the more obvious the difference from the norm. (the-penis.com)
The most extreme form of androgen insensitivity is a condition known as Testicular Feminization Syndrome , in which a baby has the male chromosome but its tissues are completely insensitive to testosterone, and it develops as a female, although lacking ovaries and womb. (the-penis.com)
Testosterone and Its Inhibitors Testosterone is normally metabolized to dihydrotestosterone (DHT), which is the most potent androgen. (mien.bike)
For this reason, men on testosterone-replacement therapy suffer with a condition called anandrogen insensitivity syndrome (AEIS). (mien.bike)
Androgens like testosterone increase muscle mass. (mien.bike)
DSD can also be the result of androgen insensitivity syndrome, which means that a child's body does not respond to androgens (testosterone). (ucipediatricurology.com)
The normal chromosomal study (46,XY) and normal testosterone conversion enzyme study (particularly 5-reductase level) exclude other causes of androgen resistance. (mhmedical.com)

Hundreds of different variants (also called mutations) in the AR gene have been identified in people with androgen insensitivity syndrome, a condition that affects sexual development before birth and during puberty. (medlineplus.gov)
In humans, each of these processes initiates at puberty and continues throughout life. (jci.org)
Besides being born with a slightly different penis, a boy with androgen insensitivity may show less development of male features at puberty than other boys, so it is important he gets the medical support he needs. (the-penis.com)

Pagonis noted that intersex people with PAIS are thought to be unable to utilise androgens, which is why they are given oestrogen. (thepinknews.com)

The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). (wikipedia.org)
For patients who have not previously received any genetic counselling or seen by a doctor, we recommend consultations with our team of Clinical Geneticists at Sir Ganga Ram Hospital, prior to the start of the PGD process. (ivfgangaram.in)
Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). (asu.edu)

Presents clinically in adolescence because of failure of the adrenal gland and testes to produce androgens. (mhmedical.com)

Orchids is a highly personal account of being intersex - or rather, of having an intersex variation called Androgen Insensitivity Syndrome (AIS). (archermagazine.com.au)
There's some things related to my intersex body I've recently found out that i havent given myself time or space to process. (thepinknews.com)

The process of transitioning may include hormonal and/or surgical intervention to bring external physical characteristics in line with gender identity. (encyclopedia.com)
Gynecomastia is a complex process resulting from many hormonal changes in the body. (jaycampbell.com)

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)

Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)

Though a number of theories have been proposed in attempts to understand and explain the developmental processes that relate to transsexuality, the etiology remains under debate. (encyclopedia.com)
The imbalance between estrogen actions relative to androgen action at the level of breast tissue is believed to be the main etiology. (jaycampbell.com)

Androgen receptors allow the body to respond appropriately to these hormones. (medlineplus.gov)
The receptors are present in many of the body's tissues, where they attach (bind) to androgens. (medlineplus.gov)
Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. (medlineplus.gov)
Researchers believe that AR gene variations may increase the activity of androgen receptors in the scalp. (medlineplus.gov)

our results support the hypothesis that prenatal androgen exposure affects sexual orientation in women. (zmescience.com)

Although there are standard patterns for organs and systems (face, heart, blood, genitalia etc), the process of evolution by random chance, 'mistakes', 'misreading', and new combinations of the building blocks of genes drives diversity. (can-sg.org)

Medical care for a patient with androgen insensitivity syndrome (AIS) has 2 aspects: hormone replacement therapy (HRT) and psychological support. (medscape.com)
Hormone replacement therapy (HRT) is sometimes part of the treatment process. (ucipediatricurology.com)

PCOS , or Polycystic Ovary Syndrome, is a common cause of irregularity and other menstrual disorders. (bellaallnatural.com)

Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. (medscape.com)

In Kennedy disease (spinal and bulbar muscular atrophy [SBMA]), a motor neuron disease caused by a CAG expansion in the AR gene, androgen insensitivity appears later in life, with postpubertal gynecomastia being the most common sign. (medscape.com)

Although androgenetic alopecia is related to the effects of androgens on hair growth, it remains unclear how changes in the AR gene increase the risk of hair loss in people with this condition. (medlineplus.gov)

Epigenetic mechanisms like DNA methylation and histone modifications are essential for multiple physiological processes like development, establishment of tissue identity, imprinting, X-chromosome inactivation, chromosomal stability and gene transcription regulation. (pediatricendoreviews.com)
The blood tests revealed that their child had a condition known as androgen insensitivity syndrome (AIS)-while she was genetically male, with one X and one Y chromosome, she was resistant to male hormones, or androgens. (designersagainstaids.com)

In patients affected by Androgen Insensitivity Syndrome, when is removal of the gonads recommended? (americasboardreview.com)

This process determines phenotypic sex - the visible distinction between male and female. (mdedge.com)

Estrogens strongly stimulate and androgens weakly inhibit mammary gland growth. (jaycampbell.com)

Doing what they [the doctors] did to me was f**ked up enough, but now realising that they didn't even have the diagnosis right - and that I can utilise androgens - is f**king infuriating beyond belief. (thepinknews.com)

The baby-making process is genetically complicated. (thetech.org)

As you can probably appreciate, making a human male or female is a really complex process. (thetech.org)
The answer lies in the fact that human sexual development depends on delicately balanced biochemical processes. (oneradionetwork.com)

Because their bodies are unable to respond to androgens, they may have mostly female sex characteristics or signs of both male and female sexual development. (medlineplus.gov)

And when I did learn more about my situation, I had neither the information to consider my medical treatment, nor the time to process the implications of surgery. (archermagazine.com.au)
Syndromes: Rapid Recognition and Perioperative Implications, 2e Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T(Eds. (mhmedical.com)

When the female body secretes too many androgens - the 'male' sex hormone - this can prevent mature eggs from being developed and released. (bellaallnatural.com)

Retinoids play key roles in a wide variety of essential biological processes, such as vertebrate embryonic morphogenesis and organogenesis, differentiation and apoptosis, and homeostasis. (umbc.edu)

As a result of these changes, cells that are normally sensitive to androgens become less responsive to these hormones or unable to use these hormones at all. (medlineplus.gov)

Incompletely matured Sertoli/granulosa cells are insufficiently capable of directing the normal mitotic block / meiotic induction germ cell program, and as a result, embryonic germ cells are delayed or blocked in their normal maturation process. (pediatricendoreviews.com)
Although short-term use of somatropin HGH can be used safely as the primary hormone therapy for adults with androgen insensitivity syndrome (4-5), long-term use may result in hypoglycemia in certain individuals. (idnow.info)

Abnormal dermatoglyphics may be prominent in fragile x syndrome. (albionfoundation.org)

In essence, there is evidence for a molecular androgen memory at both the transcriptome and the epigenome level. (pediatricendoreviews.com)

Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. (asu.edu)

This process is called differentiation. (healthline.com)

During the process of harvesting embryotic stem cells, the embryo is destroyed. (healthline.com)

A cycle shorter than 21 days or longer than 35 is far enough outside of the average that it can have effects on both health and medical processes. (bellaallnatural.com)

Core to this process is a belief in a societal binary two gender system. (bmj.com)

Paraneoplastic syndromes due to tumor-mediated factors lead to various presentations. (medscape.com)

Anatomy1

Diseases9

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Psychiatry and Psychology2

Phenomena and Processes3

CAIS5

Mild androgen insensit2

Receptor18

Partial9

Klinefelter Syndrome2

Karyotype3

Testosterone12

Puberty3

PAIS1

Genetic3

Testes1

Intersex2

Hormonal2

Testicular feminization1

External genitalia1

Etiology2

Receptors4

Affects1

Genes1

Hormone replace2

Disorders1

Synthesis1

Gynecomastia1

Unclear1

Chromosome2

Patients1

Phenotypic1

Estrogens1

Diagnosis1

Genetically1

Human2

Development1

Implications2

Female1

Biological1

Hormones1

Result2

Abnormal1

Evidence1

Means1

Differentiation1

Stem cells1

Medical1

Belief1

Lead1