It seems that every time that I go to the doctor I am confronted with not only having AIS, but having to be a teacher, spokesperson and victim all at the same time. You see, for me, even on the most routine appointments like for a sinus infection to get medicine, (which is the only reason that I typically go) or for a UTI or even if I broke a finger, the nurse will begin by asking "So are you pregnant? Are you sure? When was your last menstrual period?"
I will answer, as always, that I do not have menstrual periods and I'm positive that I'm not pregnant. This will open up a can of worms that on a good day will have the curious nurse just prod with questions until she is satisfied that I actually know what I'm talking about and that the world will not have to stop before she weighs me and takes my vitals, just because I do not have a period. On a not so good day, her curiosity turns into a medical seminar (remember folks I feel crappy enough to have gone to the doctor) in which she finds it all fascinating or she brings someone else in to hear about it, or I think that I can just barely hear her joking about it to a co-worker in the hall.
Doctor's are not necessarily any better, they either spend 10 minutes longer in their office reading up on AIS before coming in to feel my swollen glands and confirm that "it looks like Strep," or "yep, it's a sinus infection, you'll need some antibiotics." No Kidding! I think to myself as he then changes the topic to AIS and has me explain it until he's satisfied that either he or I understand it (I'm not always quite sure which.) Unfortunately, this usually becomes the topic of why I am there. I'll say, will you please note that I have AIS in my chart (thinking that there will no longer be such questioning each time I come in- silly me!). Lastly there is sometimes the side comment from either a doctor or a nurse "oh that's so interesting," or "wow, you're so brave" or even "well you're handling this well." UM, HELLO! I can't change this I was born with AIS, yeah I'm handling it, do I have a choice?
TO all medical professionals: please remember YOU ARE NOT NECESSARILY the world's leading physician hero! No offense but STOP watching "House" and get real! If I am telling you about AIS, it's pretty damn likely that I've been consulted about it and since I'm only there for a cold or a broken nose, I think it's a bit irrelevant! Remember, I've probably been made to feel like a lab rat before, YEP! I've been poked and prodded and scanned and examined ad nauseum. So please have the decency to respect me enough to NOT make it the AIS show when I come to the doctor for a routine visit. AND PLEASE DO NOT ask me if you can invite in a resident or a group of students or another doctor so you can all get a good look at me. NOT when I'm there for a cold! If I was in your office for something related to AIS then I'd be glad to teach you or help you teach others, but PLEASE let's think about this for a second and be reasonable!
THANKS!
Welcome! Please take some time to learn more about:
Androgen Insensitivity Syndrome (AIS), complete (CAIS), partial (PAIS), mild(MAIS)
What is Androgen Insensitivity Syndrome?
CLICK HERE for an in-depth overview of AIS from the AISSG
CLICK HERE for the complete Wikipedia page on AIS
Having AIS means that the body is unable to process (insensitive to) male hormones (called androgens).
AIS is a genetic condition that is caused by a recessive gene which is passed from a mother to a child. AIS or the body's inability to process androgens or male hormones (like testosterone,) affects every person differently that has this recessive gene.
Therefore it operates on a spectrum: some people with AIS are relatively responsive to androgens and have a MILD form; others whom are less responsive to the hormones have a PARTIAL form, while others are COMPLETELY unable to use the androgens.
AIS is not completely uncommon. Estimates put children born with a form of AIS between 1 in every 20,000 babies with XY chromosomes. There may be even greater numbers since these numbers only reflect medically reported and recognized cases.
These numbers probably do not take into account men that are very minimally affected with a mild form or MAIS, who might not even know that they have it. They may develop as completely 'normal' male or may have only slight issues with virilization.
A mother that is a carrier of the recessive gene for AIS is generally not affected by the gene, but may pass the gene to her children that are genetically XY. She may also have children with XX chromosomes and some might also be carriers of the recessive gene.
In each of her pregnancies there is a 1 in 4 chance she could have a:
'Normal' XY boy, or
AIS XY baby, or
'Normal' XX girl, or
Carrier XX girl
During the fetal stage of development, the body forms basic gonads that either distend and become testicles or remain within the body and become ovaries. A fetus with the recessive gene that causes AIS cannot respond to their own chromosomes properly resulting in the range of this intersexual condition, based on the individual's level of sensitivity to androgens.
Sometimes with partial AIS or PAIS it can lead to ambiguous genitalia or complications with some genital formations. Some of these individuals are diagnosed earlier in life, while others may not be and may also develop pubic and axillary hair or might possibly have an enlarged clitoris. Children with PAIS or with CAIS may also be born with bi-lateral hernias as babies.
When a child is born with complete AIS or CAIS, the baby will probably outwardly appear as a completely 'normal' female. She will typically be raised as a woman and may have internal 'gonads' that produce testosterone, which the brain alters to estrogen for her. Since male hormones are responsible for sexual virilization or facial, pubic and underarm hair, a person with CAIS may have little, if any. Some of these women do not even find out about having AIS until in their late teens or after puberty when the diagnosis is established because of a lack of menses or a period.
A person with CAIS (although XY) is destined to look female as they cannot take male hormones to change the body's appearance or thus have a 'sexual reassignment' to look male (since the body can't process them). Studies have shown that most women with CAIS (although they technically have XY chromosomes) would not typically choose to be male and are not typically confused about their gender role. Gender identity and genetics are not always one in the same; one's chromosomes do not define "WHO" they are.
Many ("XY") women with forms of AIS have a "blind" ended vagina that can range from very shallow to 3/4 the size of a 'normal' XX woman; and vaginal sexual intercourse is possible for many others with dilation or surgical lengthening, should that be their choice.
Many intersexual XY women with AIS have their internal 'gonads' removed due to an increased cancer risk. Women with CAIS do not have ovaries, fallopian tubes or a uterus and therefore cannot bear children. Many women with AIS take Hormone Replacement Therapy or HRT to replace the estrogen that is lost from removing the gonads.
Having AIS does NOT necessarily imply being inclined to identify one's self specifically with either gender, as this may also occur on a spectrum of feeling more linked to one gender rather than another, or neither, depending on the individual. Having AIS does not imply being homosexual, or having any specific sexual preference. It may not necessarily lead to having gender dysmorphia or the feeling of being "trapped" in the wrong gender. Individuals with intersex conditions might not necessarily consider sexually reassigning themselves (as transsexuals do) or desire to change appearance to become androgynous, or to "gender bend" like transvestites do.
There is debate in both the medical and intersex communities about when is the right time to (if ever) remove the internal gonads or in the cases of PAIS when there is ambiguous genitalia, when to assign a gender.
According the the US-AIS Support Group AISSG- "Based on conservative estimates of frequency, approximately 8000 women in the US and Canada have a DSD (Disorder of Sex Development) identified as Partial or Complete Androgen Insensitivity Syndrome"
CLICK HERE for the complete Wikipedia page on AIS
Having AIS means that the body is unable to process (insensitive to) male hormones (called androgens).
AIS is a genetic condition that is caused by a recessive gene which is passed from a mother to a child. AIS or the body's inability to process androgens or male hormones (like testosterone,) affects every person differently that has this recessive gene.
Therefore it operates on a spectrum: some people with AIS are relatively responsive to androgens and have a MILD form; others whom are less responsive to the hormones have a PARTIAL form, while others are COMPLETELY unable to use the androgens.
AIS is not completely uncommon. Estimates put children born with a form of AIS between 1 in every 20,000 babies with XY chromosomes. There may be even greater numbers since these numbers only reflect medically reported and recognized cases.
These numbers probably do not take into account men that are very minimally affected with a mild form or MAIS, who might not even know that they have it. They may develop as completely 'normal' male or may have only slight issues with virilization.
A mother that is a carrier of the recessive gene for AIS is generally not affected by the gene, but may pass the gene to her children that are genetically XY. She may also have children with XX chromosomes and some might also be carriers of the recessive gene.
In each of her pregnancies there is a 1 in 4 chance she could have a:
'Normal' XY boy, or
AIS XY baby, or
'Normal' XX girl, or
Carrier XX girl
During the fetal stage of development, the body forms basic gonads that either distend and become testicles or remain within the body and become ovaries. A fetus with the recessive gene that causes AIS cannot respond to their own chromosomes properly resulting in the range of this intersexual condition, based on the individual's level of sensitivity to androgens.
Sometimes with partial AIS or PAIS it can lead to ambiguous genitalia or complications with some genital formations. Some of these individuals are diagnosed earlier in life, while others may not be and may also develop pubic and axillary hair or might possibly have an enlarged clitoris. Children with PAIS or with CAIS may also be born with bi-lateral hernias as babies.
When a child is born with complete AIS or CAIS, the baby will probably outwardly appear as a completely 'normal' female. She will typically be raised as a woman and may have internal 'gonads' that produce testosterone, which the brain alters to estrogen for her. Since male hormones are responsible for sexual virilization or facial, pubic and underarm hair, a person with CAIS may have little, if any. Some of these women do not even find out about having AIS until in their late teens or after puberty when the diagnosis is established because of a lack of menses or a period.
A person with CAIS (although XY) is destined to look female as they cannot take male hormones to change the body's appearance or thus have a 'sexual reassignment' to look male (since the body can't process them). Studies have shown that most women with CAIS (although they technically have XY chromosomes) would not typically choose to be male and are not typically confused about their gender role. Gender identity and genetics are not always one in the same; one's chromosomes do not define "WHO" they are.
Many ("XY") women with forms of AIS have a "blind" ended vagina that can range from very shallow to 3/4 the size of a 'normal' XX woman; and vaginal sexual intercourse is possible for many others with dilation or surgical lengthening, should that be their choice.
Many intersexual XY women with AIS have their internal 'gonads' removed due to an increased cancer risk. Women with CAIS do not have ovaries, fallopian tubes or a uterus and therefore cannot bear children. Many women with AIS take Hormone Replacement Therapy or HRT to replace the estrogen that is lost from removing the gonads.
Having AIS does NOT necessarily imply being inclined to identify one's self specifically with either gender, as this may also occur on a spectrum of feeling more linked to one gender rather than another, or neither, depending on the individual. Having AIS does not imply being homosexual, or having any specific sexual preference. It may not necessarily lead to having gender dysmorphia or the feeling of being "trapped" in the wrong gender. Individuals with intersex conditions might not necessarily consider sexually reassigning themselves (as transsexuals do) or desire to change appearance to become androgynous, or to "gender bend" like transvestites do.
There is debate in both the medical and intersex communities about when is the right time to (if ever) remove the internal gonads or in the cases of PAIS when there is ambiguous genitalia, when to assign a gender.
According the the US-AIS Support Group AISSG- "Based on conservative estimates of frequency, approximately 8000 women in the US and Canada have a DSD (Disorder of Sex Development) identified as Partial or Complete Androgen Insensitivity Syndrome"
Some former terms for AIS have included:
Testicular Feminization Syndrome (Testicular Feminisation Syndrome) or (TFS), Feminizing Testes Syndrome (Feminising Testes Syndrome), and Male Pseudo-hermaphroditism, - all of which are no longer preferred terms since they are inaccurate and stigmatizing.
Some synonymous terms for AIS have included:
Androgen Resistance Syndrome, Morris's Syndrome (CAIS), Goldberg-Maxwell Syndrome, Reifenstein Syndrome (PAIS), Gilbert-Dreyfus Syndrome (PAIS), Rosewater Syndrome (PAIS), Lubs Syndrome (PAIS)
Karyotype=46,XY
Women with a 46,XX karyotype that have the gene for AIS in their family may not have any symptoms/notable physical effects but can possibly be a carrier for the recessive gene.
Other biological conditions that can lead to intersexuality -
XY conditions other than AIS:
5 alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency, XY or pure gonadal dysgenesis (Swyer Syndrome), Leydig cell hypoplasia, ovo-testes, Mixed gonadal dysgenesis, embryonic testicular regression syndrome, persistent müllerian duct syndrome, Denys-Drash Syndrome, Smith-Lemli-Opitz Syndrome,
XX conditions other than AIS:
Mayer Rokitansky Kuster Hauser (MRKH) Syndrome, Mullerian dysgenesis, vaginal atresia.
More conditions that CAN lead to intersex conditions include but are not limited to:
Congenital adrenal hyperplasia (there are different forms), Klinefelter's Syndrome-XXY, XYY Syndrome, XXYY Syndrome, Turner Syndrome-X, Triple X Syndrome, XXXX Syndrome, XXXXX Syndrome, and sometimes Mosaicism and Chimerism
Testicular Feminization Syndrome (Testicular Feminisation Syndrome) or (TFS), Feminizing Testes Syndrome (Feminising Testes Syndrome), and Male Pseudo-hermaphroditism, - all of which are no longer preferred terms since they are inaccurate and stigmatizing.
Some synonymous terms for AIS have included:
Androgen Resistance Syndrome, Morris's Syndrome (CAIS), Goldberg-Maxwell Syndrome, Reifenstein Syndrome (PAIS), Gilbert-Dreyfus Syndrome (PAIS), Rosewater Syndrome (PAIS), Lubs Syndrome (PAIS)
Karyotype=46,XY
Women with a 46,XX karyotype that have the gene for AIS in their family may not have any symptoms/notable physical effects but can possibly be a carrier for the recessive gene.
Other biological conditions that can lead to intersexuality -
XY conditions other than AIS:
5 alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency, XY or pure gonadal dysgenesis (Swyer Syndrome), Leydig cell hypoplasia, ovo-testes, Mixed gonadal dysgenesis, embryonic testicular regression syndrome, persistent müllerian duct syndrome, Denys-Drash Syndrome, Smith-Lemli-Opitz Syndrome,
XX conditions other than AIS:
Mayer Rokitansky Kuster Hauser (MRKH) Syndrome, Mullerian dysgenesis, vaginal atresia.
More conditions that CAN lead to intersex conditions include but are not limited to:
Congenital adrenal hyperplasia (there are different forms), Klinefelter's Syndrome-XXY, XYY Syndrome, XXYY Syndrome, Turner Syndrome-X, Triple X Syndrome, XXXX Syndrome, XXXXX Syndrome, and sometimes Mosaicism and Chimerism
Hermaphrodite VS. Intersex- the preferred and MORE ACCURATE terminology
Intersex in media
LINKS
from AISSG-UK books and written materials list for further reading
from AISSG-US links and articles page
Lessons from the Intersexed- Book by: Suzanne J. Kessler
Intersex and Identity- The Contested Self- Book By: Sharon E. Preves
Anthony Briffa article on life with PAIS
Oprah Winfrey Show episode- Growing up Intersex
The Condition: a novel- Book by: Jennifer Haigh
Middlesex- Book by: Jeffrey Eugenides
upcoming novel featuring AIS
Film:
XXY
Boys Don't Cry also on IMDB
Medical/Psycho/Social research:
THE KINSEY INSTITUTE
OUR ADVOCATE the incomparable Dr. Charmain Quigley directory of her cited publications
AIS Does not mean immediate surgery- new medical article
How Sexually Dimorphic Are We? Review and Synthesis. American Journal of Human Biology 12:151-166 (Blackless, Melanie, Anthony Charuvastra, Amanda Derryck, Anne Fausto-Sterling, Karl Lauzanne, and Ellen Lee. 2000.)
College of American Pathologists
Gene Review
E medicine
from AISSG-UK books and written materials list for further reading
from AISSG-US links and articles page
Lessons from the Intersexed- Book by: Suzanne J. Kessler
Intersex and Identity- The Contested Self- Book By: Sharon E. Preves
Anthony Briffa article on life with PAIS
Oprah Winfrey Show episode- Growing up Intersex
The Condition: a novel- Book by: Jennifer Haigh
Middlesex- Book by: Jeffrey Eugenides
upcoming novel featuring AIS
Film:
XXY
Boys Don't Cry also on IMDB
Medical/Psycho/Social research:
THE KINSEY INSTITUTE
OUR ADVOCATE the incomparable Dr. Charmain Quigley directory of her cited publications
AIS Does not mean immediate surgery- new medical article
How Sexually Dimorphic Are We? Review and Synthesis. American Journal of Human Biology 12:151-166 (Blackless, Melanie, Anthony Charuvastra, Amanda Derryck, Anne Fausto-Sterling, Karl Lauzanne, and Ellen Lee. 2000.)
College of American Pathologists
Gene Review
E medicine
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1 comment:
I am a medical student and have landed on your site in pursuit of answers to some of my questions regarding AIS. I am sorry you are so frustrated with your medical care and am hoping that I can provide some insight to help explain some of the behavior you describe. Please understand that physicians/nurses, are not experts on every subject and as AIS is a relatively rare condition, it is reasonable that most practitioners would want to refresh themselves on relevent facts and concerns for patients with this diagnosis before addressing the patient. This is a part of your life and you obviously have spent a good deal of time learning and understanding it, compared to the 1-2 lectures we have received. Just remember however, not every patient is as proactive about their health as you seem to be. To avoid constantly being questioned about AIS you should consider picking a primary care physician, such as a family doctor in private practice, with whom you could establish a relationship. This way you could avoid the "getting to know you" type of questions you are describing, both from staff and physicians. This would also cut down on the exposure to other professionals who are trying to learn. You always have the right to refuse to be seen by students, residents, etc. however, as a learner I must say that you are doing a disservice to us, and to our future patients when you make that choice. If everyone refuses to be seen by students then from whom will we learn? I have been a patient myself and can guarantee that no one likes to be the teacher of a learning nurse or physician, but to ensure better care in the future I would ask that you reconsider the opportunity you have to educate as many health care professionals as you can about your special field of knowledge. Please be patient, we may not have all the answers or know the best things to say but we are trying to better serve you and provide you with empathy and support.
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