View Full Version : In a quandry and need some advice/info
Hello all,
My daughter was diagnosed with CAIS when she was 1 month old. She had a double hernia and needed surgery. Low and behold they found testicles instead of ovaries and her uterus is missing. Well, we tried to find out all the information we could, and proceeded to deal with the situation as best we knew how. We figured she would have the surgery to remove the gonads next year at age 2, and then start on the HRT when the time came. She is very tall for her age, very intelligent and very active. An all around healthy little girl.
Well, we just received letter from her endocrinologist stating that they found no genetic defect in the Androgen Receptor. Which means that they do not know at this moment what or where (genetically) her exact defect is. The letter states that perhaps it is possibe that the defect is in another Gene.
WHAT? I don't understand this. If the damage is somewhere else, will she still grow up in the same manner as CAIS? Or should we hold off on this surgery, as maybe she would need to make up her own mind as to whether she is a girl or boy? I told her endo that there is a very good possibility that my mother took DES while pregnant with me and my older brother. Should I have him investigate this more? We live in Switzerland, and it is very difficult for me with the language. He didn't even recognize the term "DES" when I said it and that kind of scared me as my Swiss Gyno knew what it meant, so shouldn't my very important and well respected Professor of Endo recognize this also? He works at a very good uni clinic in Zurich.
I would love to hear your reactions to my ramblings. And any suggestions as to where we could perhaps get some better info would be greatly appreciated.
Thanks in advance, and thank you for letting me vent a little!
Butkus
Dear Butkus,
I have AIS but that doesn’t mean I can answer all you questions. But I’ll do my best…
Well, we just received letter from her endocrinologist stating that they found no genetic defect in the Androgen Receptor. Which means that they do not know at this moment what or where (genetically) her exact defect is. The letter states that perhaps it is possibe that the defect is in another Gene.
Quite often (C)AIS is used as a kind of “pre-diagnosis” for a girl with an XY,46 karyotype. It can take months and a lot of tests before you get a “final diagnosis”. And sometimes it is just impossible to find the reason of AIS. Actually it is even impossible to give a diagnosis of CAIS before the child reaches puberty. The difference between CAIS (or AIS grade 7) and PAIS grade 6 is not visible in newborns.
In about 5 percent of CAIS and about 20 percent of PAIS it is not possible to find a genetic defect. That doesn’t mean that your child doesn’t have AIS. But… it is possible that your child has one of the other conditions like 5ARD, 17BHSD, Sweyer’s or Leydig cell hypoplasia.
Only with high grade AIS your child is insensitive for androgens. With the other conditions your child is unable to make androgens or to convert them to more potent androgens.
WHAT? I don't understand this. If the damage is somewhere else, will she still grow up in the same manner as CAIS? Or should we hold off on this surgery, as maybe she would need to make up her own mind as to whether she is a girl or boy?
If your daughter is diagnosed with CAIS she probably doesn’t show any signs of virilization. In that case you can safely expect that she never wants to be a boy. But if she had an enlarged clitoris and/or fused labia it is more difficult to predict her future. If she has PAIS, she most likely will have a completly female gender. With conditions like 5ARD and 17BHSD a change of genderrole is a bit more common.
Unfortunately, even if you know for certain that she has 5ARD or 17BHSD it is impossible to predict her gender. But especially with those conditions not removing the gonads will have a terrible effect on people who identify female. During puberty the amount of androgens will rise to a level that partly compensates for the lack of enzymes that are the cause of 5ARD and 17BHSD. Because of that, male secondary sex characteristics will start to develop: deepening of the voice, facial hair, etc.
And then there is the possibility of malignant tumors. In CAIS that chances is really small, but with ambiguous genitals and the chance is significant higher.
I’m not a medical professional, but even if I would be qualified to answer your question I really don’t know what to advise. There are also other - not very well documented - arguments against gonadectomy. Many adults complain about feeling very tired after their gonads were removed. And it seems that people who had their gonads removed later in life have not as many problems with osteoporosis as people who had their gonads (almost) immediately after birth.
All I can advise is to talk to a doctor who has seen many people with an intersex condition. I know that several people in Switzerland go to Germany for a diagnosis.
I told her endo that there is a very good possibility that my mother took DES while pregnant with me and my older brother. Should I have him investigate this more? We live in Switzerland, and it is very difficult for me with the language. He didn't even recognize the term "DES" when I said it and that kind of scared me as my Swiss Gyno knew what it meant, so shouldn't my very important and well respected Professor of Endo recognize this also? He works at a very good uni clinic in Zurich.
Officially there is no relation between XY intersex conditions and DES. But that doesn’t explain why in the Dutch AIS support group more women than average told me that their mother took DES…
I would love to hear your reactions to my ramblings. And any suggestions as to where we could perhaps get some better info would be greatly appreciated.
Thanks in advance, and thank you for letting me vent a little!
Butkus
You’re welcome! If you have AIS related questions that you don’t want to ask here in the public forum, you can always send me a PM.
Met vriendelijke groet,
Miriam
Dana Gold
09-08-04, 03:39 PM
Officially there is no relation between XY intersex conditions and DES.
Most of all current knowledge about DES centers on carcinogenic effects, although some sourecs admit to "relatively" minor reproductive tract effects compared to significantly presented congenital conditions (ambiguous genitalia etc). However research done by the National Institute of Health (NIH) some time ago using mouse/rat models in their research (along with human observations)came up with this excerpt (taken from their website with link below). It must be noted that anatomic/physiologic variations occur with each individual which can be accounted for, perhaps, by when, how long, dosage amount and concentration of DES was ingested during pregnancy:
"Other effects observed in mice that parallel those in humans include infertility and subfertility; oviductal, cervical, and uterine malformations; paraovarian cysts of mesonephric origin; salpingitis isthnica nodosa of the oviduct (an epithelial change in the oviduct); immune dysfunction; and vaginal adenosis. Observations in DES-exposed male offspring (both humans and mice) include subfertility and infertility, decreased sperm counts, hypoplastic cryptorchid testes, epididymal cysts, testicular tumors, anatomical feminization, microphallus, hypospadias, retained Müllerian remnants, and prostatic inflammation. Thus, the prenatally DES-exposed mouse model appears to be valid and to parallel the human condition. To that end, the model has been used to replicate and predict many of the lesions observed in similarly exposed humans. Exposure to DES early in gestation results in structural, functional, and long-term changes, including neoplasia, in both humans and mice".
The link: http://planning.cancer.gov/whealth/DES/index.html
And here is another link:
http://www.cdc.gov/DES/
One interesting, but very disturbing and sad fact, is that some women were not aware of taking DES. That is because they were given as prenatal vitamins not indicatoing that DES was an "ingredient" :
In the years between 1938 and 1971, the advice of a medical professional was rarely questioned. Patients believed that the physician knew best, and the concept of informed consent was unknown at the time. It was widely believed that DES would make a pregnancy healthier. Many women were unaware they were taking DES because the drug was marketed in combination with vitamins. In fact, DES and similar DES-type drugs were marketed under dozens of brand names (see Table: “Names of DES and DES-Type Drugs ”), and manufactured by over 200 U.S. drug companies at different times. 2
Look under Background and Epidemiology in this additional link:
http://www.nursingcenter.com/prodev/ce_article.asp?tid=417395#15
As a final note: I am providing these Internet links to better familiarize yourselves with DES and related resources...... not as any medical advice or diagnosis. It's always good to know about such matters when they pertain to us directly.
I'm sorry that I haven't anything from your area of Europe.
Dana
I would let this individual grow up , but tell her about her life , do not hide the abnormal gene.
I am ther and I was not of or knew I was Intersexed. That is a tradegy in its own right.
I did not have a choice about anything.
I wish I had the decision about my surgerical endeovours when I was at a young age , I do not think I would have had all the problems in life that I had when I was growing up.
I wanted to hide , I did not have many friends and I just wanted to die.
I still do not have friends because they do not comprehend I was born with XXy.
I request on to you be truthful and repspect this individuals right to be Az1.
Thank you, everyone, for the information and advice.
Miriam and Dana, I appreciate the info. You know, we are starting from scratch here. My husband and I were totally unprepared for the diagnosis, we had no idea how special our little girl was/is. We are of the opinion that the more information we have, the better equipped we are to help her find her way in the world. Of course, her doctor is just a little bit against that. He is of the mind that we should just do what he says, and not try to find anything out, as we would probably find only bad information. I tried to explain that we are halfway intelligent adults, and can distinguish the good from the bad, but he still worries that I will come to him with something off the wall (and what's wrong with "off the wall"?).
We discuss our situation quite frequently, and have decided to go forth with the gonadectomy early next year, as it has only been one year since the hernia operation (thank goodness hernia's run in my husband's family, or we wouldn't have found this so early).
Az1, I am sorry that you had such a confusing childhood. And I am proud that you are hear, giving advice and helping out someone else to ensure that they do not have such a time. Thank you for that. As far as raising our daughter, we will definitely tell her what is going on. Genitalia-wise, she is a normal little girl. No fused labia, no oversized clitoris. We will continue to raise her as a girl, and hopefully figure out the best way and time to tell her of her circumstances. We haven't told anyone in our families, except our parents, as we wanted to make sure that she wasn't told by a cousin or friend before we had a chance to discuss it with her. After that, it is her body, she will then make the decision who to tell. I don't advocate secrecy in these things, only the chance to present the correct facts, and not some ignorant family member's version of "her little problem" (can't find a "tongue in cheek" icon!).
We love our little munchkin, more than life itself. She is definitely our little ray of sunshine. I hope you all don't mind if I bug you from time to time with questions. You are definitely better informed, and can give us a different perspective, to make sure that we aren't just looking at this thing one-sided. I hope and pray that one day DD will be able to offer assistance to someone else in this situation. To me it is just so frustrating to not be able to get more up-to-date information. And we keep running into the "no funds available for research" wall. What's that all about? The DES link, to me, is just too coincidental. I am sure that my mother was prescribed DES with me and my older brother after a total of 7 miscarriages during her childbearing years. I am the youngest of 8 children (5 girls, 3 boys), and the only case of AIS out of 20 grandchildren and great-grandchildren (half girls) is my daughter. Go figure. I am eager to learn more about this. Not just to lay blame, but for the fact that how many other drugs are they prescribing out there with side effects that last into another whole generation? Amazing. And sad.
I have probably rambled enough. Be warned, you haven't heard the last of us! Thank you all again for your replies....and for being here! Looking forward to the future!
All the best,
Butkus
Good luck. From your description of the situation of your daughter, it seems that you are doing many things right. In the past, doctors often recommended that parents not tell their children about their situation. Denial is often very psychologically damaging to children. It is good that you are seeking out information and have posted your concerns on this forum. I agree with you that your daughter should be fully informed. In my childhood, I was routinely beaten by other children at school because they had found out about my situation from my brother. As my parents were ashamed of my situation, I was not able to go to them for support when being abused by other children.
While DES may be a factor in some intersex cases, I doubt that it would do the type of genetic damage that would pass from your mother to your daughter. I suspect that DES acts more at the hormonal and bio-chemical level. If you took DES, a possible link would be much stronger.
Peter
I think it is extremely irresponsible for your doctor to reccommend gonadectomy without a proper diagnosis. In some cases, such as Swyer syndrome, there is no potential for fertility and an increased risk of cancer. In such a case, gonadectomy may be justified. However, in other cases, such as 5aRD, the child is fertile and it would be cruel to remove the testes until she was certain that she never wanted to be a man and never wanted to have children. In cases of true CAIS there is no clear benefit to removing the gonads, as the risk of cancer is small. Why are you considering gonadectomy at such a young age and without a proper diagnosis?
(Or, to put it more pointedly, suppose your child starts showing male behavioral characteristics. How are you going to explain to him that you cut off his balls? This is a serious question.)
The other thing I feel needs to be pointed out is that your daughter will need an endocrine evaluation before puberty. If sufficient estrogen is not produced, or the gonads have been removed, there can be serious problems with bone growth. Also, lack of proper hormone production can cause many psycological problems, sleep disturbance, etc. This is all too often overlooked. (It was in my case, although that was a very different situation as I don't have AIS.)
About disclosure, well, since your daughter will never get her period, obviously you are going to have to explain this. And of course you will need to explain the doctor visits. Being evasive is not helpful, as kids are pretty good at figuring out when you're lying to them.
Finally, as others have said, DES does not cause AIS. If there is any connection, it might be that whatever caused your mother's miscarraiges could be genetically related to your daughter's condition. But that is purely speculative.
Lots of doctor visits and examinations can be rather traumatic for such a young child. Unless there is a serious medical problem, maybe you should just worry about raising a happy little girl.
Dear neko,
I think it is extremely irresponsible for your doctor to reccommend gonadectomy without a proper diagnosis.
Who said there was no proper diagnosis? Butkus said that with genetic testing no defect in the Androgen Receptor was found. If such a defect would was found it would have been the ultimate proof that the diagnosis is correct. But not finding a defect on the AR gene doesn’t mean the diagnosis was incorrect.
In cases of true CAIS there is no clear benefit to removing the gonads, as the risk of cancer is small. Why are you considering gonadectomy at such a young age and without a proper diagnosis?
Recent research, some of it not published yet, shows that all children born with a high grade AIS (unambiguous female genitalia) will develop a female genderidentity. So the risk of an incorrect sex-assignment doesn’t play a role in the case of Butkis’ daughter. Although we are women with balls, even after the gonadectomy ;) our gonads are not of much use to us. We don’t produce sperm cells, so we can’t “father” a child. (yikes, just the thought of it makes my stomach turn: ‘hi dear daughter, I’m your mother, I look like a woman, I identify female, yet I’m your biological father. Oh, btw, half of your x-chromosomes contain an AR-gene defect, so you can pass this wonderfull genetic condition to your children’ – NO WAY!.) But it also is not absolutely clear that the estrogens converted from testosterone (by aromatase) are better than those from a pill; some people think that with aromatase not enough estrogens are produced to prevent the bones from osteoporosis. Yeah I know, we need more research….
But there is one very good reason to remove the gonads. The hernia isn’t a real hernia. Actually it are the testes that want to descend and when nobody is expecting testes, it looks like the girl has a hernia. Those descending testis sometimes make it difficult to pee in a downward stream, especially if they reach the labia. And since even little girls don’t like to pee over their legs, descending testes are a good reason for a gonadectomy in childhood.
What is better? I don’t know. Most women of who the gonads where removed in childhood say that they are happy with it. And most women who have their gonads removed later on in life say that they are happy that it wasn’t done in childhood.
(Or, to put it more pointedly, suppose your child starts showing male behavioral characteristics. How are you going to explain to him that you cut off his balls? This is a serious question.)
Do you really have to be rude? A bit more respect for the difficult decisions parents have to face would help if you want to convince them of your point of view.
Finally, as others have said, DES does not cause AIS.
DES does not cause AIS, but many women with AIS say that their mother has used DES. A possible explanation of that would be that with AIS there often is a history of miscarriages and DES was meant to prevent miscarriages. My sister is 11 years older and if my mother would not have had so many miscarriages, my sister and I would have had at least zeven siblings.
Lots of doctor visits and examinations can be rather traumatic for such a young child.
After the diagnosis, with can require several visits to a hospital, most doctors in the Netherlands, Germany and (as far as I know) also in Switzerland want to see a girl with AIS only once per year. On a personal not I can add that it is not the number of doctor visits that are traumatic. It is the way the doctor sees you, as a interesting genetic condition or as a human being.
Unless there is a serious medical problem, maybe you should just worry about raising a happy little girl.
And that is valid for all children, not only for girls with AIS ;)
Groeten, Miriam.
Sorry, I didn't mean to be rude. If it is truly CAIS then there is no potential for fertility, so that is not an issue. There seemed to be some concern that this might not be CAIS though.
And I agree if the decending testes are causing problems, then surgery is warranted. But surgery of any kind is traumatic for a child. I was subjected to some childhood surgeries (not IS-related) and I was damn furious about it at the time.
The issue with HRT is more complicated. There IS a difference between the estrogens which are produced by aromatization of testosterone and estrogen from a pill. Injested estradiol is primarilly converted to estrone. Also some doctors like to use ethinylestradiol - I've tried this drug and it certainly does not feel the same as natural estradiol.
Miriam and Neko,
Thank you both for your concern and info. Neko, I probably did make it sound in my OP like the CAIS diagnosis was retracted. Miriam kindly pointed out to me that just because the flaw was not found in the AR, does not mean it is not there at all, just another variation (please correct me if I said that wrong. I try to simplify to get a better grasp of this and can tend to get things fuddled!). I received a letter stating this from my daughter's endo, but it was in German and while my basic German is very good (I can talk to you all day long about the weather, shopping, and that idiot George Dubya), I find that when it comes to medical terms, I am seriously lacking.
Our daughter has been to the Unispital 4 times now: once for pre-surgery evaluation, once for the surgery, and twice to visit her endo after it was found that she is an AIS baby. At one later visit, blood was taken and the doctor called to confirm that, from his experience, it did indeed look like CAIS, and we should proceed accordingly. I don't have any issues with this. From what Miriam wrote, and the material I have read from various groups/organizations, it is probably, in the long run, better for the testicles to be removed (for both cancer and self-esteem issues). The HRT we haven't even gotten to yet. More long words :rolleyes: . But rest assured, we will be educating ourselves about that, also! We understand the basic theory, but really do want to know more. As far as her endo goes, I have complete faith in him. I know that he is a well educated, intelligent man and he treats our daughter like a human, not a science fair project. We were also excited to find that her pediatrician at one time worked with her endo, and has another AIS patient who is 14 years old. At least we aren't working blind here. I just don't like that her endo treats us, the parents, like children. Too afraid to tell us the full story. Apparently, in the past, he has found that some parents just cannot grasp what is going on with their child, and tend to treat the child differently as a result, by not bonding in a normal parent/child way. So he started off with us by giving us only half the story, and finally letting loose with the whole enchilada as soon as he saw that we were indeed concerned parents and would not let something like AIS compromise our relationship with and the healthy development of our daughter. He can still sometimes be a little hesitant, but we are definitely whipping him into shape :whipg: .
I didn't mean to focus on the DES. Just an interesting topic to me. I understand that DES does not cause AIS. Just interesting that so many people with AIS tend to have a link to this drug.
I appreciate everyone's posts. It means alot to me that you are here and ready to help the best way you know how; by sharing your fears and experiences. I will be bugging all of you for info and the need to share my concerns in the future. Thank you in advance! My greatest dream at this time, apart from helping my daughter grow up a happy, healthy human being, is to one day write a story of our experiences, with other lost parents and AIS'ers in mind.
Thanks for letting me bend your ear again. I hope that my post is coherent...I have only had one cup of coffee this morning. Usually can't function on so little caffeine :wink_smil .
All the best,
Butkus
Dana Gold
09-12-04, 12:16 PM
I didn't mean to focus on the DES. Just an interesting topic to me.
Neither did I mean to , and DES is an "interesting topic" to me, because I suspect that my mother took it during her pregnancy with me.
As it is pointed out in the links I provided, many women were given this drug....it was literally "passed out like candy during Halloween " to any women who were pregnant or "going to get pregnant". And there is likely no correlation at all between DES and AIS, merely that these mothers were only one of the many. However due to the the mere fact that they were administered this drug, it would still be prudent to not pass over the matter too lightly.
Dana
Just thought I would let you know that I did speak to my OB/GYN about the possibility of my mother taking DES. His mouth dropped open, and he got this very thoughtful look. He said that yes, it was probable given the time frame and my mother's problem with miscarriages (14 times pregnant, only 8 children!). He wasn't surprised about our daughter's endo not knowing about DES. He said that while it was widely used in the US, it was not something prescribed in Europe. Well, I feel better now that I know why he was not familiar with it.
We have set the date for surgery to remove the testicles during the first week of March. Not nervous now, but as that date moves closer, I know I won't have any fingernails left!
Thanks again for being here.
Butkus
Thank you, everyone, for the information and advice.
Miriam and Dana, I appreciate the info. You know, we are starting from scratch here. My husband and I were totally unprepared for the diagnosis, we had no idea how special our little girl was/is. We are of the opinion that the more information we have, the better equipped we are to help her find her way in the world.
Butkus
Hello Butkus my name is Julanne. I also had my gonads removed at a young
age.
Miriam wrote: Not removing the gonads will have a terrible effect on people
who identify female.
I would agree with that statment, and I would like to add that some girls that
had gonads young in life have, what my parents called, male interests. That
is not a reason to think though that your little girl will identify as male. My
family was hard on me for not liking dresses or not wanting to play with what
they called girl toys, like dolls.
My self-esteem was hurt badly as a child because my mother really had
strong doubts about my gender, even though I didn't, and she projected
them on me. Your little girl will needs tons of encouragement and paise
regardless of how she acts do develop a strong, healthy sence of self. It is
important as well that she gets raised in a sex role that does not waffle.
I had a cousin who talked like a boy, dressed liked a boy, yet later in life, got
married and now does not act anything like she did in childhood.
I myself don't act anything like I did in childhood. My father also was
somewhat absent for a lot of my life, and I think that had more to do with my
tomboyishness then having a intersex condition.
I'm sure that you are making the right choices.
Julanne,
Hello, and thank you very much for your kind words. Everyone has been so open and helpful. Its a very good feeling to have someone confirm that you are on the right track. When it was discovered that our little girl was CAIS, I cried for a whole day, until I finally realized, this is not a life threatening disease. She can live a long and happy life, as long as she always has a very strong foundation to build on. You can just imagine all the things that went through my head that first day. Knowledge has definitely given us peace of mind, and it gets better the more I converse with the members here. My husband and I are pretty pragmatic in our approach to life. We pretty much know the obstacles that couples must endure, but have the will and the want to overcome these to provide a safe, stable environment for our little munchkin. After all, we wanted to become parents, we should live up to our responsibilities. My parents divorced when I was 4. Probably a good thing in one respect as my father was an abusive alcoholic. He sexually molested 2 of my sisters (I am the youngest of 8) before my mom decided she needed to get us away from him. That was a long time ago, and I know that she did the best she could, he pretty much just didn't hold up his end of the spouse/parenting bargain. I didn't have much of a father figure after that, and was also pretty much a tomboy. I understand that our daughter might also exhibit some tomboyishness at times, but like you said, as long as we don't waffle, there should be no confusion. She should be able to make her own choices when the time comes. And we will be happy for her as long as she is always true to herself. I am sorry that your parents weren't better informed (I am assuming that was the case). I am glad this board is here so that I can learn from your experiences. Thank you for that. Hearing from real people with real life experience is definitely better than all of the statistics printed in the books!
My husband asked me the other day if I think much about our daughter's condition, or does it not enter my mind until the topic is raised due to Dr. visits and the like. I told him that it is constantly on my mind, but not that I am looking to see if she is more boy or more girl, but constantly thinking about the future and my role in her well being. At first, we were a little concerned about buying her pink clothing or babydolls, as we wondered if we were putting too much of our views on her, but she is showing her true personality more and more each day. Now I get it in my head that as long as she can have a normal sex life as an adult (meaning without pain from a too short vagina) that she should have no problems with her gender identity. But then, that is probably a product of my upbringing, where I associated sex with love. Funny how the excess baggage of our lives can complicate. Well, they say everything is a process, and I guess we will be learning more of ourselves during this process. I will try to not think so far ahead, and definitely concentrate on the importance of the moment.
We are headed off to the US tomorrow to make our rounds and visit the family. Looking forward to show our little girl off to my family and give them a chance to know her better. We still agree not to tell my family or his (With the exception of the grandparents, as we need a back up in case something ever happens to us. Somebody needs to be prepared to take up where we left off.) as we want control over the information she receives (meaning accurate!) and believe that timing is important. Unfortunately, we don't see them cooperating in this manner (I have a sister with an incredibly big mouth!). Better for them to get to know her as just her, and not complicate matters. As I am sure you all know, there are some very stupid and biased people out there, and family is definitely not the exception. Not something I want my 17 month old to experience.
Take care everyone, and looking forward to hearing more and writing more in the future. We are not gone, just on vacation!
And Julanne, thank you again for your lovely words of support. And sorry this is so long! Must be my monthly cleansing!
Butkus
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