View Full Version : some questions
i had two doctors (an endo and a GP) give me some sort of intersex diagnosis but are kinda clueless on where to go from here.
my insurance company rejected my endo, so im in debt with him and until i can pay him, he wont see me.
my GP just wants to brush it under the carpet and ignore it, but she does aknowledge it.
i was raised female (medical records have never been found from my birth).
i started female puberty, but it abruptly stopped and i started to masculinize shortly after (so i have breasts that look like they are sort of deflated and small. basically half developed.)
i seemed to have normal periods, but i had several severe digestive problems resulting in having my gallbladder removed at age 20. my doctor had no idea why that happened and i dont know if its in any way related....
i went to the endocrinologist to start testosterone treatment and got all of my bloodwork back.
we were going over it and he got to my hormone levels and said "oh my god"
i responded with "um, what?" (thats not something you want to hear from your doctor)
he said that my hormone levels were severly out of whack. i had an extremely high tesosterone level and hardly any estrogen. he said he didnt know how i had periods and it lookd like i would go through a cycle, but nothing would happen.
he asked if was "sure that i had ovaries"
he said it could be a form of CAH, but he really didnt know.
he said he was sure it was some sort of intersex condition, but didnt know exactly what it was.
i was never able to go back........
so anyway.
basically i dont know where to go from here.
im really confused.
any advice would be helpful.......
elijah
(sorry this is so long. this is really hard to talk about. my parents have kept a lot from me for a long time and its rough getting through all of this. my mom said she knew something was wrong when i hit puberty....i dont know if it goes any further back than that. my doctor freaked so they sent me to therapy. hah.)
claraJane
03-28-03, 01:51 PM
Welcome elijah!
There are perhaps 5000 different intersex conditions. But, from what you've said, one might make some observations.
Spontaneous menstrual periods are a pretty good indication of having two X chromosomes. Considering that conditions like xxy <i>generally</i> result in a male phenotype, I'm guessing that your karyotype is 46,XX.
Having some spontaneous feminization at puberty indicates functional ovarian tissue. Or, another possibility is testicular tissue and androgen insensitivity. Having later spontaneous virilization would tend to preclude androgen insensitivity.
So, we're left with conditions that start with feminization and turn to virilization. And probably in a 46,XX karyotype.
* 46,XX true hermaphrodite - with both ovarian and testicular tissue is a long shot. I don't see why the ovarian vs testicular hormone production would change (unless there were also an adrenal change at puberty)
* 46,XX CAH - onset at puberty. The CAH folks here would have to comment on that one. All I know is that it can happen
* 46,XX - polycystic ovarian syndrome. They say it <i>usually</i> involves normal estrogen levels.
There are other folks out there who have similar conditions. I recall speaking with someone who had periods, got pregnant, had a baby, and then started virilizing. Sorry I don't recall the name. Did an intersex documentary. You might ask the folks at ISNA. They'd remember the name.
Jane :o)
Might be LOCAH-Late Onset CAH or might even be Progestin Induced Virilization that would be the root of your being intersexed.
I can't believe your endo is refusing to see you because you still owe money. What kind of dr is that? Can't they set up a payment plan for you? If your endo was used to working with IS patients maybe he would have known better how to code the insurance claims. As my dr explained to me when she started testing me, to tell the insurance you are a pseudohermaphrodite is one thing, but if the dr states that you are a true hermaphrodite then your chances of being covered by insurance after that are about zero. You might want to email Betsy, the moderator for Bodies, because she has a list of recommended drs and there might be someone in your state or nearby that would be more understanding.
Hey if you ever want to talk Elijah just PM me. I've spent the last year trying to find out "what" I am. Its been a rough road, but I am learning who I am as I start to acknowledge both of my genders. So I can relate to what you are going through. It helps to have others we can talk to who are facing the same things in their life.
Angela
[QUOTE]Originally posted by claraJane
[B]Welcome elijah!
There are perhaps 5000 different intersex conditions. But, from what you've said, one might make some observations.
5000 different IS conditions? 5000??? Are you sure about that? Last I heard there are 30 known conditions with 75 variations of A.I.S. But I couldn't list all 30, as all I have ever seen listed is maybe a dozen conditions
claraJane
03-28-03, 04:55 PM
Hey Angela,
Probably not PIV. When the mother takes Progestins it can affect the phenotype of the infant. But I wouldn't think it would have a virilizing effect at puberty.
The 5000 number is a quote from Dr Martin Malin, a sexologist. Several years ago I asked him if we could talk. All of my relationships with "therapists" had been counterproductive and I wanted to "get over it". Commenting on medical diagnosis closure, he said "Don't expect closure. There are 5000 intersex conditions and you may be 5001." 5000 may be a wildly innacurate number. However, keep in mind that there are a multitude of proteins involved in sexual development and function. A problem with the synthesis or processing of any of these proteins could result in an intersex condition. What is surprising is that IS isn't more common than it is.
Regarding AIS. There is a website that lists the possible genetic mutations that result in CAIS or PAIS. Different mutations are classed as AIS even though the synthesis "problems" are much different. Is each mutation really its own condition?
Kind regards,
Jane
something that ive been dealing with as well is people trying to tell me "not to think about it"
my GP had/has been pushing for me to get a hysto for my underdeveloped/whatever ovaries.
she suggests it almost every time i see her.
ive been dealing with the trans community and their reactions and its not always been a positive one.
ive often got people not believing me or whatever.
maybe because i came out in the that community after starting transition from female to male.
i dont know its just frustrating and i dont really know where to go.
i feel like sometimes people want me to give them my medical record or something for "proof"
im just feeling out of place i guess....
sorry for rambling on.
just a lot of bottled up things coming up....
Sunshine1
03-28-03, 10:36 PM
I was researching the term "True Hermaphrodite" and came across the web page of Berdache Jodan who states being born a True Hermaphrodite. Jordan also writes of chromosome struture of a True Hermaphrodite being 46 xxy (mosaic). It's an interesting and well done web page.
claraJane
03-29-03, 09:26 AM
46xxy isn't a valid karyotype. The nomenclature doesn't allow for it. If you have two X chromosomes and one Y chromosome then you either have a total of 47 chromosomes or you're missing an autosome somewhere, in which case you're born dead.
47,XXY is Klinefelters
Mosaics are karyotypes like 45,X/46,XY or 45,X/47,XXY.
Chimaeras are karyotypes like 46,XX/46,XY and so on
True hermaphrodites, if you believe the medical journals are
usually 46,X (like Cheryl Chase)
some are mosaics of 45,X/46,XY (like me)
and some are chimaeras 46,XX/46,XY (like a really nice bloke on this list :) )
Although I've known some klinefelters who claim to have ovarian tissue (47,XXY), I can't find such in medical journals. That doesn't mean it doesn't happen.
I suspect that Berdache is chimera.
There is a good introduction to genetic nomenclature at
http://www.chromodisorder.org/intro.htm
46XXY is most certainly a valid karyotype. I learned that in high school biology. Some Klinefelters exhibit as 46XXY. There is more than one kind of Klinefelters and there is even something called a Klinefelters mosaic.
Within the intersex world the words "not possible" do not seem to fit. I have read medical journals speaking of people with as many as 50 chromosomes and also someone that had an extra chromosome on number 15 that caused intersex condition. Yes I know 15 is not suppose to be related to gender.
Not too long ago people were telling me all true hermaphrodites are 46xx/xy including my doctor. I came up with a stack of medical documention that within the US (for some unknown reason) the majority of true hermaphrodites are 46XX. But regardless of chromosomes anyone presenting with both ovarian and testicular tissue is a true hermaphrodite. The thing chimeras can be very well hidden. The extra chromosome may show up in tissue in one particular organ for instance, so blood tests don't reveal chimeras a lot of times when it does truly exist.
Berdache Jordan was a true hermaphrodite and most likely a chimera as she was supposed to have been born a twin. (like me) But I'd really appreciate not debating on Berdache validity as existing. She was the first intersexed person that ever befriended me and helped me to acknowledge and be proud of who I am. Berdache passed away last year, so please don't slander her ok. Thanks.
Angela
claraJane
03-29-03, 04:38 PM
I'm sorry. I wasn't questioning Berdache's truthfulness nor hir intersex condition. I was merely trying to point out that the karyotype 46xxy, as stated, isn't a valid karyotype.
I'm really not trying to be argumentative either. Every living human being has 22 pairs of autosomes. If you have an extra autosome then you have problems. For instance, Downs has an extra chromosome 21. People with missing autosomes don't survive.
The 46 number in 46xxy represents the total number of chromosomes. That's the 44 autosomes plus whatever sex chromosomes are listed. In this case that's xxy. Well, 44 plus 3 is 47.
Non mosaic Klinefelters is 47,XXY (44 autosomes + three sex chromosomes)
45,X is Turner's syndrome (44 autosomes + one sex chromosome).
A mosaic of Klinefelters and Turners would be written as
45,X/47,XXY or 47,XXY/45,X.
A chimera of 46,XX (ordinarily normal female) and 46,XY (ordinarily normal male) would be written as
46,XX/46,XY or 46,XY/46,XX
Mixed Gonadal Dysgenesis is a mosaic of 45,X (Turners) and 46,XY (ordinarily normal male). That's what I've got and it's written as
45,X/46,XY or 46,XY/45,X
I wouldn't be foolish enough to state that a particular intersex condition couldn't exist. I understand that there are intersex conditions related to autosome mutations. But the rules of the nomenclature are like the rules of math. I agree that 44 and 3 exist. Just don't tell me that 44 + 3 is 46.
Jane :)
Sunshine1
03-29-03, 05:32 PM
I wanted to bring up Berdache Jordan's web page because I found it very helpful in away that transends choromosomes and gender. By the way, after looking at the web page again I found that I typed all the x's and y's wrong anyway. On her web page it is 46 XX XY. Anyway, I've looked at the web page on and off for awhile and found it gave me a certain type of inner peace. I never met Jordan but I sure am glad that she took the time to make that web page. I once wrote Jordan a long detailed letter and was saddened to read that she passed away from an illness that was unrelated to her condition.
I really am sorry I brought this web page up. Who knows why on her web page it just stated 46 XX XY ? maybe her typist forgot to put another 46 in front of the XY TO BE PROPERLY written as 46 XX/46 XY. My point was to share the whole content of the web page. I like the link Berdache spirit. For me looking at this web page helped me look at life with a higher self esteem.
Respectfully,
Flying Bird
Sunshine1
03-29-03, 06:02 PM
Angela:
I liked that you stated "within the Intersex world the words "not possible" do not seem to fit." You could take that as a positve affirmination also. Not possible to do something is not in my personal dictionary. Start that new business? Sure ! Go back to school ? Yes, I CAN !!
I found a web page that gives reference to 46 XXY (mosaic). It has to do with Klinefelters syndrome and I found it on the web page from The Centre for Genetics. http://www.genetics.com.au/Genetics2003/FactSheets/24b.asp
What caught my attention was the paragraph under the picture of the chromosomes.
Aimee
claraJane
03-29-03, 09:04 PM
It's called a typo my dear.
Note that in most places they use 47,XXY. Only in one place do they call it 46,XXY. It doesn't suddenly become 46 when it's in a mosaic. Which chromosome would be missing? Count the number of chromosomes in the picture. Or ask any geneticist on the planet about it. The number is the total number of chromosomes in the cell. There are 44 autosomes unless the karyotype states otherwise.
A Downs female would be 47,XX,+21
44 normal autosomes, two sex chromosomes and an extra 21st chromosome.
Jane :)
I suppose this is a typo too?
http://bret.mc.vanderbilt.edu/igp/html/Genetics01/George/George02/sld016.htm
claraJane
03-30-03, 09:18 AM
Yes. There are plenty of them on the web. Did you bother to actually count the number of chromosomes in the picture before posting it here? Pretty simple! There are 47 chromosomes in that picture. Count them!
Here's a link to a college textbook that explains how karyotypes are performed and the nomenclature.
http://psych.colorado.edu/hgss/hgsschapters/HGSS_Chapter08.pdf
In part it says
"Karyotypes are abbreviated by the total number of chromosomes, a comma, and the sex chromosomes of an individual."
Additions or subtractions from the usual 44 autosomes follow that.
:)
I find it really funny you think you know more than someone at Vanderbilt as that is where the info came from in the last link. Yes I counted and looks like 46XXY to me.
A friend that speaks 5 languages translated from a couple of websights. If you do a websearch for 46XXY most everything comes up in languages other than English. Right now I am asking permission to use his translations or better yet have him post here.
Look I'm not trying to fight with you. I just can't believe you will dispute info from clinical cases of real intersex people. Your textbooks are useless when intersex never obey normal genetics anyway.
Funny thing is my dr told me a few years ago she was treating someone that is 46XXY. I suppose you think she is an idiot too. And perhaps the people at the lab that did the karyotyping must be also.
Angela
im sorry that this turned into an argument.....
i didnt intend to i just wanted to ask questions that i needed help with.
claraJane
03-30-03, 03:45 PM
Elijah, Angela,
I'm sorry that this has turned into an argument as well. But isn't it important that the information we post be accurate? There is enough information out there that is bogus.
In the interest of peace I'd be happy to drop this. But just for my peace of mind...
Would someone, anyone, who is reading this post go to Angela's link
http://bret.mc.vanderbilt.edu/igp/html/Genetics01/George/George02/sld016.htm
and count the chromosomes and then post their count here?
Kind regards,
Jane
i dont know a single thing about chromosomes and the like.
i failed a lot of science classes in school. :)
so y'all are speaking a total foreign language to me.....
claraJane
03-30-03, 04:03 PM
elijah,
Each of the squiggly lines is a chromosome. Some are short and some are long. What they do is take a picture of the cell and then cut out the chromosomes and arrange them in pairs according to what chromosome they are, from 1 to 22 then the X and Y chromosomes. They number the chromosome pairs below them.
Kind regards,
Jane
BrownAndrea
03-30-03, 04:37 PM
It is a common mistake in labs to put the 46 in. It only seems to ever change if there is something in the autosomes missing or extra. You could have 100 sex chromosones and they would still number it 46, I used to do the same thing myself, when I was a lab technician.
It is just laziness on the pat of the lab technicians.
love
Andrea
Sunshine1
03-30-03, 09:52 PM
Like you Elijah, I don't know a thing about science and/or in my case math and they the powers that be say that people with CAH have a wonderful grasp of math yeah ... whatever. I was just relaying info from Berdache Jordan's web site and I am so sorry that I even brought it up. This was site that had helped me find an inner peace in regard to not being born the "norm" and it was my hope that others would look at the web page also.
As for CAH or Late onset CAH, I'm sorry but I don't know if that is what you have or if you have something else or sorry, nothing at all. CAH / LOCAH is detectable by certain blood test that any Endocrinologist can order. You stated in your post that you went to an Endo that wasn't under your insurance? Is it possible to go to an Endo that is under your insurance ? A least for me the system goes like this . I go to my Internist, then they call my insurance agency and make the referral for the Endocrinologist and that way everything is covered and there are no "issues." GEEEZ, What I go through for the freakin Hydrocortisone (lol ) I've been dealing with this since I was born and it's not like it is going to change. When I was born doctors first thought I was a boy, then they thought I was a hermaphrodite and then they realized after tests that I was female with CAH but also a pseudo hermaphrodite via the extreme external virilization. Basically, the doctors wondered what the hell is that? So, from the beginning it was easy to see that something wasn't like the rest of the kids that were delivered. Based on my female chromosome structure, they did surgery to move me in the direction that the doctors thought genderwise was most apporpriate for me. I'm lucky that the surgery was held off until I was five and I feel bad for people with Intersex conditions that are subjected to a gender that doesn't fit them. I had a nurse tell me that "genitals like mine at birth look weird and how you supposed to catherize that?" hummm ...maybe make a catherizer to fit the person and not the person to fit the catherizer. Why was I weird because I didn't look like her down there? who was she or anyone to say what was weird? We live in a world that is hung up about things that are perfectly natural. I see the gleam in doctors eyes until they realize that I'm a normal person. When I first went to my new Internist, he said out loud to himself, "CAH, WOW....You really have this" I thought to myself ....yeah ..what of it ? and trust for him went out the window because some doctors insist it seems to make CAH something out of the ordinary when to me it is no more exciting then brushing my teeth. I was given up for adoption because of the CAH, the poor woman ...she just couldn't handle it. I am thankful that my adopted parents waited until I was at least five until any surgery was done. For 1975, I think that was pretty darn open minded and accepting of them.
Have you looked at the LOCAH message board ? If you have CAH, they might be of some help. How do you feel physically and/or mentally? I know some people on the LOCAH board were offered therapy when in reality they just needed treatment for LOCAH. The problem was physical not psychological but then again someone with CAH/ LOCAH, something else or nothing at all could also have psychological "issues' and need help getting a grip on them too.
The internet is great but I wonder how much it can help someone that is having trouble with a diagnoses. Would it be possible for you to seek a second opinion from another Endo? One that is in your insurance ?
Good Luck,
Flying Bird
Elijah,
Have you talked to a gynecologist? Endos are not the only practioners that see intersexed patients. Gynos are usually very informed about CAH and sometimes more knowledgable about estrogen vs. testosterone levels than endos. Many endos will see primarily diabetics, depending on the community, and may be rusty when it comes to intersexed issues. Just a thought...
Angela
im trying to find an endo in the dc area that is covered by my insurance and would be somewhat knowledgeable.
as for gyno's, ive actually never been to one.
ive had one pap done by my doctor who has seen me since i was like, three. and also my doctor whom i see now (who was the other person besides my old endo that agreed on some sort of intersex condition but didnt know what.)
thank you for the suggestions, i talked to someone who knew a guy who was intersexed and his endo was quite knowledgeable so hopefully he will work out.
*keeping my fingers crossed*
-elijah
On 46 XXY...I cut and pasted the following from ISNA:
What is Klinefelter syndrome?
Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. Men with Klinefelter syndrome inherit an extra X chromosome from either father or mother; their karyotype is 47 XXY. Klinefelter is quite common, occuring in 1/500 to 1/1,000 male births.
I'm not even close to ever being a doctor or geneticist. In fact, when I had some genetic testing done, the explanation had my head spinning and I consider myself fairly intelligent despite the stupid things I always seem to pull off.
Elijah, on your conundrum, I want to reply but want to make sure I have solid information to share with you first. On the surface (which is only what I have read quickly this evening) I would question a CAH suggestion for a number of reasons. But again. I'm not a doctor. I'll write more tomorrow or Tuesday about my thoughts on it.
betsy,
i look forward to hearing your thoughts.
my friend lilly told me to contact you because she said she thought you might be able to help.
thanks
-elijah
oops!
i just realized that you responded to me in the main forum.
sorry!
still look forward to hearing from you, though! hopefully i can figure this stuff out.
Elijah,
I've just sent you email...please reply directly. :)
Betsy
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