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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:

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.

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