View Full Version : Finally, sme answers and compassion.
sparklingdreams
10-13-06, 12:43 AM
I saw my new Endocrinologist last week,
And I had a Doctors visit like never before. First I had the problems with my conflicting XX & XY Karyotype tests'. I am XX, but a lot of my X chromosomes' have what she called SRY indicators on them. And most Karyotype tests just kinda brush through chromosomes looking for these SRY indicators, and if they are their than the chromosome is counted as XY. But XX chromosomes can have the SRY indicators, or more often mutations that appear similar to the SRY indicators.
My new, and old (from nine years ago), Endocrinologists' did a more detailed test which actual checks for more than just those SRY indicators, but actually checks my cells chromosomes in more detail, which show I am XX. But with the SRY indicators being present my Endocrinologist suggested that may have played a role in why the parents chose to raise me as male.
The way the father treated me was inexcusable, regardless. Rape, abuse, & mutilations just aren't right. As for my C.A.H., I don't have any elevated androgens, at least not any more. She said there are rare kinds of C.A.H. that don't have raised androgens, and other where the excess androgens stop being produced. I asked so many questions about growing up, my periods, and so many things. And she never once acted as if I was being a pain.
And when she hit on a very emotionally painful question. She was unbelievable, she actually sat with me while my terror subsided and even asked for my therapist's information so they can coordinate my treatment to avoid any further trauma. After so many years of Doctors being as bad, if not worse than, my diseases. I can't believe how educated she is on, at least my kind of D.S.D.. I still have so many questions about so many aspects of my life and my D.S.D., but I finally am seeing a Doctor who is compassionate & knowledgeable enough to finally get me those answers. She even understands why I can't submit to a P.A.P. smear, I didn't have to explain, beg, or anything. So after the terrifying & painful experiences from one horrible Endo & my ex-G.P. it seems that everything is working out for the best.
So that's my latests update. I hope everyone is doing well, take care.
First I had the problems with my conflicting XX & XY Karyotype tests'. I am XX, but a lot of my X chromosomes' have what she called SRY indicators on them. And most Karyotype tests just kinda brush through chromosomes looking for these SRY indicators, and if they are their than the chromosome is counted as XY. But XX chromosomes can have the SRY indicators, or more often mutations that appear similar to the SRY indicators.
I understand that you want to hear something else from your doctor than "sorry, you have XY-chromosomes" but what you say now doesn't sound very scientific to me. Karyotyping is done with an ordinary light microscope. That means you can't say much about individual genes (like the SRY gene).
If you want to know how karyotyping is done, you probably want to visit this site:
http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
The SRY gene has been discovered in the mid eighties of the previous century. Karyotyping in general has been possible for over hundred years now.
Read this if you want to know more about the history of the SRY-gene:
http://www.embryology.ch/anglais/ugenital/molec02.html
Groeten, Miriam
sparklingdreams
10-13-06, 03:49 AM
I also saw the Karyotype test,
I also trust someone who hasn't already expressed their dislike of me. I'm sorry you're upset so much by which of the D.S.D. I have... or maybe its because of the one you have. I went to my new Endocrinologist for answers. I'm glad I finding them.
I'm sure it would have made you happier if she said I had PAIS & CAH or something you feel you know. But just like you I'd never heard of this... then I learned even the Olympics comity had this problem.
And oh before you discount my medical results, and accuse my of lying, the least you could do is, oh I don't know... maybe Google something. For example here are a few things I found in like 30 econds after reading your post:
Incomplete masculinisation of XX subjects carrying the SRY gene on ... (http://jmg.bmjjournals.com/cgi/reprint/36/6/452.pdf) (PDF)
Detection of the SRY Gene in a 46,XY Phenotypic Female by the PCR ... (http://journals.tubitak.gov.tr/medical/issues/sag-00-30-5/sag-30-5-18-0001-2.pdf) (PDF)
Gender Testing of Female Athletes (http://www.hhmi.org/biointeractive/gendertest/gendertest.swf)
I've gotten it that you don't like me... I don't know why, but would you please stop attempting to discount my existence because I've been through things you haven't. And the last thing I need after the last month is a basic history of Karyotype... but maybe you could expand you're mind beyond just trying to discount me. Whatever I did to upset you so bad, that's your issue, whether its because I can have kids?, because I'm up front when asking for help?, or maybe it's my emotional issues from my past abuse? But whatever it is please stop putting them on me.
I'm dealing with my problems, issues, & question to bad you didn't like my results (sarcasm).
Maybe you should become an undereducated Endocrinologist and actually do some real damage.
Katie, don't shoot the messenger.
The way you attack me is well known as a ad hominem fallacy:
http://en.wikipedia.org/wiki/Ad_hominem
I said nothing about your special condition. I did not say that the SRY gene has nothing to do with sex differentiation. I only said that the things you said about karyotyping are not correct - as far as I know the SRY gene is not used in karyotyping.
I would appreciate it when you would focus on what I said and not on what I didn't say.
Groeten, Miriam
sparklingdreams
10-13-06, 12:34 PM
And do so under medical supervision & explanation,
And do the best to understand what my Doctor explains to me. Here I'll simply make use of the ignore user function. *ttfg*
sparklingdreams
10-14-06, 03:10 AM
And as I wrote in my first post,
XX+SRY does change the appearance of XX chromosomes and makes them look like XY chromosomes. My Endocrinologist may have ran a different Karyotype test, the usual one I think is P.C.R. but there are other types of tests. My Endo may have also ran a Genetic test, or my different result may have come from where my sample was taken from, blood tests versus mouth swab. And I'll continue to learn more about this portion of my D.S.D., though I feel no need to share what I learn here to explain things to you. It has brought my in many new directions of research through N.L.M. (National Library of Medicine) which will aid me in my work with my new site and with the I.S.N.A..
I'm constantly surprised by your lack of compassion, given how much pain you must have lived through having A.I.S.. I won't subject myself to reading your replies, those to my or others posts', any longer. I do wish you the best in finding happiness & healing though.
sparklingdreams
10-14-06, 03:32 AM
Wow,
We actually seem to have a lot in common in the manifestation of which of the D.S.D. we have. C.A.I.S. and Female XX+SRY are extremely alike in the genes that effect sex development, internal and external. Luckily my ova's were left intact (another genetic factor?). So its to bad you seem to dislike me so much, because the more answers I find the more I realize how much our individual type of the D.S.D. we have are so similar, it would be nice to encourage & support each other. But I have no need to fight for your acceptance. I'm only focusing on accepting myself and others, and damned it all if they don't want to accept me.
kayleighsmom
10-14-06, 03:52 AM
Katie,
I am also surprised at the lack of caring and compassion from some individuals. Their need to always be "right" shows lack of self-esteem at the very least and I also suspect some other underlying mental problems. Their way or the highway, I guess. But I'm not gonna be run off I don't want you to be either.
I, for one, am happy you are making progress in getting your questions answered!
Good luck sweetie and keep me posted on how you are doing.
Hugs,
Linda
sparklingdreams
10-14-06, 04:20 AM
I am also surprised at the lack of caring and compassion from some individuals. Their need to always be "right" shows lack of self-esteem at the very least and I also suspect some other underlying mental problems. Their way or the highway, I guess. But I'm not gonna be run off I don't want you to be either.
I, for one, am happy you are making progress in getting your questions answered!
Good luck sweetie and keep me posted on how you are doing.
Hugs,
Linda
Thank you so much Linda,
I really needed to hear that. Especially as hard as it is to find information on Female XX+SRY.
But no worries I, just like you, am not letting any one or more than one person run me off. I'm hear to learn & help others with an open mind and open heart. Even if others aren't. And I'll be sure to keep you updated as I learn more about my conditions' and how they effected my birth defects.
Thank you again for being so caring & compassionate. Take care & keep going, I know we'll make it through our individual travels in this world of D.S.D..
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