Tuesday, 6 March 2012

DNA Testing The Medical Mystery; More Lawsuit Preparations

Tomorrow I'll be discussing the DNA testing to be done in preparation for my lawsuit against the Dutch hospitals. The goal is to determine genetically which type of hermaphroditism I have, Mixed Gonadal Dysgenesis (MGD) [1] or True Hermaphroditism (TH) [2].

I think that MGD is unlikely and I have an unusual form of 46,XX/46,XY TH considering the symptoms. There is no evidence of a real ovotestis or similar when looking at the hormone levels before hormone replacement theory (HRT), during it and before and after the orchiectomy. During those times low levels of testosterone were present which vanished after the orchiectomy. There were no significant levels of estradiol and they didn't seem to change after the orchiectomy.

The first goal will be to determine the chromosomal composition of the cells, how many X and Y chromosomes in the cells, essentially. MGD generally has the karyotype 45,X/46XY (mosaicism), whereas TH has 47,XXY, 46,XX/46,XY, and 46,XX/47,XXY and similar. By testing for the karyotype these forms should become apparent. For a complete test 20-30 different tissues should be tested, however, as with chimerism (different cell lines in a single individual) indications of these different cell lines are unlikely to exist in the same tissue type (e.g. blood). In some TH cases over 90% of their karyotype was 46,XY and yet they were still primarily female, even to the point of being fertile as such.

What's unusual in my case is the low levels of any type of sex hormone (suggesting 46,XX/46,XY), with the lack of evidence for ovotestis, with also a strongly female phenotype aside from the genitals where the phenotype is more male. Again, this suggests 46,XX/46,XY most strongly, yet not in a form usually described in the literature.

A second test to be done is testing the SRY gene on the Y chromosome for mutations, as this is also associated with TH. The SRY gene is responsible for many parts of the masculinization of the genitals during development and plays a crucial role in making someone 'male'.

At any rate I hope that this DNA testing can be concluded quickly and gives some clear results as being busy with medical stuff like this brings back really bad, traumatic memories of the past seven years. Of fighting and defending myself against physicians and psychologists who kept insisting that everything I thought was a lie and that I was just a self-deluding guy. I really notice the harm they have done to me as I am now forced to relive much of it in preparation for this lawsuit.

On the other hand, if the DNA testing gives a clear result on which type of hermaphroditism I have it will close another chapter in this harrowing story and make my case against the Dutch medical system stronger than ever. Here's hoping I won't have to wait two months or longer on it.

Meanwhile I'm not sitting idle on the media front. I have emailed two major Dutch TV shows about the talk show I was on exactly one week ago today and I'm hoping they're interested in having me around. The shows in question are 'De Wereld Draait Door' and 'Pauw en Witteman'.


Maya


[1] http://en.wikipedia.org/wiki/Mixed_gonadal_dysgenesis
[2] http://en.wikipedia.org/wiki/True_hermaphroditism

1 comment:

Jen said...

Good afternoon Maya,

First I wish to offer my personal support to you at this crucial time in your life and wish you much success with your endeavours to ascertain your natural order of physical sex.

Secondly, I want to thank you for posting this most informative account as you have educated me on some points that my own physicians are reluctant to discuss with me. For this I shall remain eternally grateful.

Great things happen for those of us who remain patient but in an active fashion.

Success is often realised and demonstrated by our personal character and resilience in the face of apparent adversity.

May I wish you the very best of fortune with your test Maya.

Best wishes

Jen