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"
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

Hermaphrodite VS. Intersex- the preferred and MORE ACCURATE terminology

AND NOW...ON TO THE BLOG POSTS:

Sunday, August 10, 2008

Just dropped in to see what condition my condition is in...

There is a recent novel released on 2008, by author Jennifer Haigh titled: The Condition: a novel, which features a central theme and a character with the intersex condition called Turner's Syndrome. Please read and feel free to discuss or comment below, also support this effort in spotlighting another experience within the human condition.

Saturday, May 10, 2008

Great Article on Genetics: The X-factor

The New York Times: 'The Wild Side' Column/Opinion- by-Olivia Judson
Posted: May 6, 2008, 8:19 pm
"When Genes Go Retro"
For the full article please follow this link
The article begins with "Pssst! I’m going on a tour of the genome — want to come?" and takes you on a wild ride into our genetic makeup.
This week, a very astute member of the intersex community, whom shall be referred to as "K" made a wonderful summary of this article in a way that was easy to understand which follows here:

"This is definitely a really cool article, and she does a great job of
explaining where new genes come from. This is how scientists have
come to understand how new species arise, specifically through the
development of brand-spanking new traits in older, familiar species.
For example, a species of cat might evolve that's better able to see
in the dark because of a specific protein that's expressed in its
eyes. None of the other cats in the world have this protein--it' s
just this one, special cat who does, and if she passes that new gene
along to her kittens, then we might have a new, more nocturnal
species of cat.

This doesn't really apply to our conditions, though. The genes that
make us insensitive to androgens, or deficient in 17-b hydroxysteroid
dehydrogenase or 5-a reductase, are already coded in the DNA of the
human species. They've been there for millions of years, and they're
the basis of how people become male or female. What happens to most
of us (as I understand it) is that we happen to get copies of the
genes that have "typos" in them. Nothing new is made, it's just a
change in the original copy. Before it gets passed on, DNA has to be
duplicated, like making a Xerox, and it's really easy for there to be
a single change in the new copy. Sometimes the changes are silent
(like you might not notice if someone wrote "your" instead of
"you're"), but other times they're more important and have a bigger
impact (like "I have dogs" and "I hate dogs"). Like Dr. Quigley
says, in the grand scheme of things, this is like 1 letter in 1 book
of an entire volume of encyclopedias, but if the "typo" is in the
gene that makes the body sensitive to androgens, for example, it will
change the way the gene is "read" and have an impact on how the body
develops.

I know this probably sounds like silly stuff, but I think it's
amazing that this is how it works--it's what motivates me to learn
about biology! Especially since these "typos" are SUPPOSED to happen--
it's how species evolve and people look different from each other.
It's all part of an amazing, gorgeous, and unending ballet! The only
problem is that we, as a society, can't really appreciate the
beautiful differences, so we decide that they're "wrong." That's
what the problem is--not the gene or the body it helps create, but
the inability of other people to understand how perfect it all is."

Saturday, April 19, 2008

Wonderful advice from AISSG-US, What to Ask the Doctor- A Menu of Questions for Women with AIS & Related Conditions

According to the AISSG:
"It is often intimidating visiting the doctor’s office and we often think of questions we should have asked but didn’t. Preparing ahead of time can help. Here is a suggested list of questions to ask a GP, gynecologist or endocrinologist. Not all these questions will apply to you and your current situation. Use this list as tool in coming up with your own list of questions for the doctor. Be prepared so that you can make the most of your visit to the doctor’s office.

Suggestions: Call ahead and explain to the nurse/receptionist that you have a long list of questions and need more time than usual. Explain you have you have a rare genetic condition and would appreciate NOT being asked questions regarding your menstrual cycle at the front desk. If you find gynecological exams particularly upsetting, speak up ahead of time and ask for a ‘get acquainted’ appointment first. Discuss your fears/concerns about having a gynecological exam. Ask what provisions can be made to help you feel more comfortable (your doctor might suggest a mild sedative if you are particularly anxious). And, if you think you would be more comfortable if a pediatric (rather than adult-sized) speculum is used during the gynecological exam, specify that ahead of time. Make it clear that you are not willing to be subjected to ‘show and tell’ and will not submit to examinations by students, interns, colleagues, etc.

1. Have you ever treated a patient with Androgen Insensitivity Syndrome or related condition?
2. Please confirm my diagnosis which I currently believe to be (i.e., Complete AIS, Partial AIS, Swyer’s, Turner’s, 5-alpha Reductase Deficiency, Mixed Gonadal Dysgenesis, etc.).
3. Please confirm my karyotype is (i.e., 46,XY).
4. My mother/aunt/sister wants to know if she is a carrier or if my AIS results from a spontaneous mutation of the DNA. Can we arrange a genetic test?
5. The risk of testicular cancer in undescended testes is real and increases significantly in adulthood. Can you confirm that (one or) both of my testes (gonads) were removed at ___ age(s). OR … Do my testes need to be surgically removed now or can I safely wait? How long can I wait? Can we use some diagnostic test to monitor/check for changes in this tissue?
6. In anticipation of starting hormone replacement therapy (HRT) after surgery, please requisition (or discuss) blood analysis to establish my current level (base line) of estrogen, testosterone and other appropriate hormones/markers.
7. What is the optimum level of these hormones in the blood of a woman of my age/height/weight, etc?
8. Please review the HRT options available.
9. Please discuss the potential benefits and contra-indications of supplemental testosterone for improved energy level, mood and libido. I understand that (depending on diagnosis) my cells/tissues are immune to the effects of androgens. However, anecdotal evidence suggests that patients experience a drop in energy and libido post-surgery and some research suggests that the brain may respond favorably to testosterone.
10. With regard to testosterone and other HRT, please discuss the best method of delivery (i.e., Estratest [generic form = Syntest] half or full strength tablets, micronized compound, trans-dermal patch, Androgel, new Proctor & Gamble patch, etc.)
11. As Premarin (conjugated estrogens derived from pregnant horses) is falling out of favor, is synthetic estrogen equivalent? What is Estradiol? What is Estrace? What is Estratest? Are over-the-counter plant-based estrogen supplements effective?
12. I am concerned I might need to use a dilator to increase my vaginal length. Please discuss other options and their pros and cons. I have (or have not) had successful experiences with sexual intimacy/sexual intercourse. [I have not been able to get comfortable enough with my AIS condition and body image to allow myself to be intimate with anyone. Please help me find a therapist or counselor.] See also #19
13. I have heard that estrogen cream can improve the elasticity, response and general health of vaginal tissues. I've also heard that products such as Vagifem Estradiol tablets can be beneficial. Do my vaginal tissues appear to be sufficiently ‘estragenised’?
14. Am I at greater or less risk for breast cancer than the average XX woman? Does taking HRT increase this risk? How often should I have a mammogram?
15. I don’t have a cervix but wonder if I should have a Pap smear or vaginal scraping done anyway.
16. What about the risk of heart disease? Is my level of risk the same as the average woman?
17. Many women with AIS and similar conditions have below normal bone density. Please requisition a baseline bone density scan. What is osteopenia and osteoporosis? Aside from regular weight-bearing exercise, a calcium-rich diet, avoidance of caffeine, what can I do to maintain or improve my bone density? What are the benefits and drawbacks of drugs like Fosamax?
18. Will you share the literature I brought about AIS with your staff and colleagues? Please let your other patients with AIS or related conditions know about our support group.
19. I am having a difficult time coming to terms with my diagnosis and would like you to recommend a knowledgeable and sympathetic therapist of counselor to help guide me through this process.
20. Have you told me everything you know (not 'everything I need to know') about my condition?
21. My rare genetic condition, wherein I have 46,XY chromosomes, can sometimes cause havoc with the computerized billing systems at medical insurance companies. From time to time, women like me get upsetting notes from their HMOs/PPOs saying their blood tests, mammograms, bone density scans and doctor visits will not be covered because the diagnostic code used by the doctor seemed inconsistent or incongruous. I need your assurances that you and your staff will do everything possible to avoid this."

This poster feels that this is a thoughtful and comprehensive list for those with AIS to consider utilizing for doctor's visits.

Thursday, April 17, 2008

So what's with the orchids?


Most people would think of an orchid as a beautiful, maybe rare flower. Orchids (and other flowers- See Georgia O'Keefe's work) have been depicted in art as having a sensual allure, or even looking like a representation if genitalia in nature. Some orchids grow, bloom and thrive in the most amazing places in harsh environs, while others take great care to cultivate. Orchids come in a variety of species and colors, just like those within the spectrum of the DSD's (Disorders of Sex Development) like AIS. To me this is powerful symbolism.
According to the US-AIS Support group or AISSG:
"Orchids - symbolic of rare and beautiful women. All the more fitting an icon since many of us [with AIS,] have had surgery known as an orchidectomy, orchiectomy or gonadectomy. The medical term for testes is orchids (from the Greek "orkhis"). " Meaning that the orkhis or testis/gonads were surgically removed for a variety of reasons.

DOCTOR, DOCTOR...PLEASE!!!

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!

Wednesday, April 16, 2008

To ALL Information Seekers:

I hope that this site will be helpful for anyone out there that is struggling with intersexuality, celebrating their intersexuality, or is interested in learning about intersexual conditions in a positive, non-judgemental way. Please post questions and either the Education Administrator or another member of the intersex community will be happy to discuss topics with you.