View Full Version : Advice on getting diagnosis.
Hello,
Need input from anyone who could suggest what tests or type of doctor I need to see to get a more definitive diagnosis.
Have tried for years seeking help, been to about six endocrinologists, genetisicists, psychologists and so on.
Had a number of blood tests, hormone tests,x-ray,mri,ultrasound and research study.
You may have seen my previous posts that I was diagnosed with IHH.
Other problems exist which I have been unable to convince doctors of.
Also tests done came back normal ,according to doctors, and their advice is to seek mental health support for how I view my body.
At puberty my skeleton feminized, the pelvis, the entire skeleton.
I walk literally like a girl.
Try explaining that to a doctor and see their reaction.
In public walking down the street people stare and laugh amongst other things.
People misinterpret my problems as being something like a transexual, which I'm not.
The problem as I've said, started to develop at puberty.
I know that I'm right but trying to convince doctors of this is hopeless.
My question to everyone is, what would you do? , where would you go to get help?
I've spent years going to several different doctors and hospitals.
Had very little support from family and they live about five thousand miles from me, haven't seen them in some time.
No friends for support and doctors haven't been to caring.
I willing to do anything, travel anywhere, whatever it takes.
If anyone can offer any help or suggestions I'd be willing to try anything.
Marc
I share your frustration. I feel like doctors don't know how to deal with this stuff. I finally convinced a doctor to order an ultrasound. The hospital had a medical assistant do the ultrasound and she said she couldn't see anything. The thing is, she probably spends all day looking at fetuses and has never seen an intersex case before, so how would she even know what to look for?
If you find a doctor let me know. I don't care where. Buying a plane ticket would be a lot cheaper than the amount I have wasted trying to get an accurate diagnosis.
Dana Gold
01-24-05, 11:43 AM
Hi Neko,
....an ultrasound...The thing is, she probably spends all day looking at fetuses and has never seen an intersex case before, so how would she even know what to look for?
I had a pelvic ultrasound done and it was the standard way as for pregnant women. I told the technician about the left lower quadrant inguinal and periodocal pain that I have had for the longest time, but she only took a "cursory" scan..(to placate me?).methodology different than the central scan. What irked me about this is that regardless having "female parts" there or not, there might still be something to be concerned about (what if I have some pelvic masses or intestinal diverticuli). Originally the doctor ordered both abdominal and pelvic (to check for abdominal/pelvic reproductive anomalies), but the 1st appt they refused to do the pelvic, because "we don't do them for men."
I had to force the issue, emphasizing the health aspect, and the chief radiologist finally okayed it. Interesting about the pain is that before I started taking estrogen the pains were worse, necessitiating me to sit down at times. I started "transition" with 1 mg estradiol initially, the pain lessened somewhat, after being and now still on 2 mg/day ( 1 mg in AM, the other 1 in PM) the pain has lessened a lot, but still a bit there. I can probably ascertain therefore that it may have had to do with some intra-abdominal vasculature down there, since estradiol increases nitric oxide production and hence vascular flow capability, but I'll really never know for sure and at one time I thought it may be some type of cancer....but all of my tumor marker blood tests (HCG, HGH, alpha-feto-protein, IGF-1, and CEA) were coming out negative (thanks to my endo who cleverly coded these expensive things), so I was relieved about that......however you're right, they only do the "standard" scan, and don't at times seem to want to look for "anything else" or know what to look for.
Dana :pizza:
Hi Marc
You may have seen my previous posts that I was diagnosed with IHH.
What is IHH ?
Other problems exist which I have been unable to convince doctors of.At puberty my skeleton feminized, the pelvis, the entire skeleton.
This happened for me also,although puberty for me did not start untill my early twenties,I am 'XXY'.
How old are you Marc ?
Have you ever suspected that,you may be xxy ?
Follow this link it will tell you of the tests required so as to determine whether or not one is XXY http://47xxy.org/Gloss/Karyotype.htm
My question to everyone is, what would you do? , where would you go to get help?
If you suspect 'xxy' you will have to go back to see an endo' and have him/her request the tests.
What part of the world do you live,I ask this because if you live in a country not affilated with the commonwealth (english health system) the tests can burn a wee hole in your pocket.
Wish you well with this
Canice
XXy
What is IHH?
Idiopathic Hypogonadotropic Hypogonadism
You can find more info at www.emedicine.com
Actually about five years ago, after searching on the internet, I was certain that I had Klinefelter syndrome.
I went to a geneticist who did a karotype and found I had 46xy/xx.
He wasn't very helpful in explaining this, basically said don't worry about it.
Went to a different hospital for a second opinion and their karotype was
46xy followed by a skin biopsy which confirmed this.
The website you forwarded I read about that test FISH which I considered having done but doctors were kind of against it as they have the results from the other tests.
As for expense, I am originally from England, so I'm aware of the National Insurance/Health Service.
Moved to the United states about ten years ago so have health insurance through my employer.
There is a wide selection of doctors, although some doctors that have been recommended to be weren't covered so obviously I couldn't afford that.
Have to go back to my endocrinologist next month maybe I'll suggest that test but also I was thinking about a CT scan.
Do you think this would help with the concerns I have about my skeleton?
All the best,
Marc
Dana Gold
01-25-05, 11:30 AM
Hi Marc,
Different chromosomal tests have varying sensitivities and detection ranges. If the geneticist's test results were 46 xy/46xx, then chromosomal mosaicism is the more likely preliminary diagnosis...and the hypogonadism is a symptom and not a diagnosis. However Klinefelter is hypergonadotropic hypogonadism (low normal - low total testosterone with elevated gonadotropins: FSH & LH); whereas I-HH is hypogonadotropic hypogonadism (low gonadotropins with low normal - low total testosterone). Both have different and distinct etiologies resulting in hypogonadism. Not always is total testosterone by itself a reliable indicator of T activity; therefore a free testosterone (bio-available) should be done also.
I haven't actually been diagnosed with an intersex condition, but I beleive
that is in fact what I have.
I don't know of any doctor or geneticist that will render an "intersex" diagnosis....they will offer the most likely concurrent medical condition they are aware of (in their speciality) in accccordance with all available test results respective in their fields. Nobody here, I believe, has "intersex diagnosis" written in their med records...it's usually CAH, or a host of other (anatomically/physiologically/genetically descriptive) medical intrepretations.
With the karyotype of 46 xy/46xx, you already do have an indicator of a intersex condition. I bid you good luck with your quest for a more specific diagnosis.
Take care.
Dana :pizza:
You know you have an intersex condition when... your doctor says: "don't worry about it".(See above) That's also what my current doctor said after examining my genital scars.
Peter
Hi Dana :applaudth
However Klinefelter is hypergonadotropic hypogonadism (low normal - low total testosterone with elevated gonadotropins: FSH & LH); whereas I-HH is hypogonadotropic hypogonadism (low gonadotropins with low normal - low total testosterone). Both have different and distinct etiologies resulting in hypogonadism. Not always is total testosterone by itself a reliable indicator of T activity; therefore a free testosterone (bio-available) should be done also.
Thank you so much for the above explanation,much appreciated
Canice
XXy
Dana Gold
01-25-05, 08:14 PM
Dear Canice,
:sign16: :biggrin: :wavey:
Marc...
welcome, and its nice to meet you. i think we might have alot in common, even though our specific problems might be different. i also am wondering what tests to get, because i will be seeing the doctor tommorow for a follow up. the thing is, i have no money, and i don't think insurance give two shits about paying for tests that "have no purpose" in their mind.
i fear getting tests at all, not because of what they may find, but what they don't find. the payoff seems nil. maybe i'm just pessimistic, but i'd like to hear if others think that i'm right....
Dana Gold
01-26-05, 12:03 PM
Hi MicroMachine! and a belated welcome to BLO ( I've been out of the loop for awhile)....anyway tests? If 5-ARD is suspected you may access relevant tests to verify the diagnosis through this web tool I've found:
http://www.4adiagnosis.com/Diseases.asp
Allow a minute or so for download; then when page is loaded (instructions) go to the very bottom column (Others) and click both 5-alpha-reductase deficiency (one with * also) and click add to pattern bar, wherein the first colmn will load....you may scan alphabetical data columns to add more patterns....then finish with clicking lab info at the comparison patterns column at page top......the list of clinical tests should appear.
Dana
Dana Gold
01-26-05, 12:17 PM
Apparently, the weblink I provided (clinical data etc) has some deficiencies of its own, since it was "under construction" prior to today and is malfunctioning still. I tested it before I posted it, but when I went back for more input data it appeared to have "regressed".
Anyway...I tried. :dunno:
Dana
:) As you said, you tried and that is what matters :wavey:
Thanks Dana--there's some good info on this site, even though there are no specific tests they list for 5-ard. It's still appriciated, and thank you.
5ARD can by diagnosed with blood tests to measure the ratio of testosterone to dihydrotestosterone. healthtestsdirect.com lists the cost at $30 for testosterone and $300 for DHT, if you had to pay for it yourself. Can't your doctor just put a diagnosis of hypogonadism as the reason for the test and submit it to your insurance company?
i'm going to find out alot tommorow, and i will inquire as to what tests might be covered under insurance. honestly, i really just want to know where my various "parts" came from, and why they arranged themselves like they did. this is my main confusion, how it all came together, and how to refer to my penis/clitoris/vagina. i don't know why i formed testicles, AND a psuedovagina, and why i can't find another similar case. i will also find out where my tubes end, and if i have sperm at all. we will see. thanks for the concern.
It is very brave of you Micro....That energy and stamina for finding out and going after it. After all I have been through, I wouldn`t have energy for something like that! I am sick of everything, even the thought of spreding my legs in front of a "comision" oh no... I was humiliated enough. I think I even couldn`t handle it again, I would definitly have a nervattack... Can`t even count how many doctors and "doctors" "checked me out"
:outtahere yaiiiiiks
Brave move!!!
nimo6211
03-02-05, 06:39 PM
I most certainly feel the urgency now more than ever with hypertension and even maybe osteoporosis (I have gone froma 6 footer to a 5'10") to consult a specialist, not only to determine what I really am but more importantly to find out what sort of medical problems I could be facing and take prevetative measures to either eliminate or at least reduce it/them.
Hi Marc
Hello,
Need input from anyone who could suggest what tests or type of doctor I need to see to get a more definitive diagnosis.
Have tried for years seeking help, been to about six endocrinologists, genetisicists, psychologists and so on.
Had a number of blood tests, hormone tests,x-ray,mri,ultrasound and research study.
I know that I'm right but trying to convince doctors of this is hopeless.
My question to everyone is, what would you do? , where would you go to get help?
I've spent years going to several different doctors and hospitals.
Marc
Somewhat like yourself, I've had a whole string of blood tests, karyotype test, and scans (including MRI, bone density, breast and testicular). I'm now up to 5 endocrinologists plus students - I currently go to a teaching hospital :) Only 2 of them really had a clue, btw.
I'm left with the diagnosis of gynaecomastia and primary hypogonadism (with enough question marks about secondary to have had an MRI scan for anomalies there) of "unknown aetiology" or "ideopathic".
I know way more about my body than I ever thought I'd need to, and I'm happy that I'm pretty healthy. My endocrine system gets a full check up several times a year, so I hope that I'll stay that way.
Physically, so long as I'm careful about how I dress, I don't look particularly androgynous or atypical. Undressed, my body shape and characteristics tell a very different story. If people on the street assume that I'm gay by the way I walk, then I suppose they'd be right. But I don't get hassle, and I don't get stared at, except on the beach (I've learnt to always wear a top on beaches...)
Maybe I'm just being lazy, but I don't know how more tests, or repeat tests, are actually going to help me or change the testosterone treatment that I'm on.
So I suppose that I'd ask you what you think a definitive diagnosis might do for you that you don't already have? What do you want to change, and why not do it anyway?
all the best
Morgan
Hi Morgan,
Living with an illness or condition and not getting a diagnosis can be very distressing. Even bad news are better than no news at all. Sometimes doctors are not able to find an explanation for your symptoms, and, instead of referring you to someone else, they will tell you, that it's all in your head. One of the worst things a doctor can tell a patient imho.
With a diagnosis 25 years ago, I probably wouldn't be disabled today.
@<hidden>
Did you ever think about, that you may not be good at explaining your concerns to a doctor? Whenever I have to talk to someone about important stuff, I try to have someone with me who can do the talking, just in case.
Sofie
Hi Sophie
Hi Morgan,
... Sometimes doctors are not able to find an explanation for your symptoms, and, instead of referring you to someone else, they will tell you, that it's all in your head. One of the worst things a doctor can tell a patient imho.
Hi Sophie
I'm in pretty much the situation you describe in the first half of your sentence: my endocrinologists have no explanation for my diagnoses. From what I understand, this is so with most hypogonadism cases. In the end, I've felt that being happy with the treatment is as - or more - important than getting a clear diagnosis.
I'm not trying to deny that it's difficult. Maybe if I was that good at it I wouldn't be here... To be honest, some of the advice I had pre-surgery scared me. I suspect that going through a bad surgery has made me come to terms more with the rest of my situation and made me more assertive. I've also learnt that there's a lot that doctors don't know, even if they're good.
You're absolutely right that a doctor telling you that it's all in your head is the worst thing that could happen. It didn't seem to me that this was Marc's situation. He's seen enough specialists. At least, I _hope_ they're specialists...
all the best
Morgan
vBulletin, Copyright ©2000-2008, Jelsoft Enterprises Ltd.