Pam - Mysteries of Life
by Pam Oates

My name is Pam. I am a 53-year-old Turner Syndrome woman, and I live in Australia. I have been married to Gordon since just before I turned 22, and we raised an adopted family, and now have two grandchildren. I am an office-worker type of person, heavily involved in a Turner syndrome support group (among other things), and (when I have the time) I like to write science fiction.

I have been invited to take part in this website because, only about three years ago, after a lifetime of being an 'ordinary' Turner Syndrome woman (presumably 45,x), I discovered that I am an xy/xo mosaic. After attending the International Turner Syndrome Conference in England in 1997, and hearing about all the interesting (and somewhat controversial) research being done, I thought I had better finally have a proper karyotype done. I was originally diagnosed when I was twelve years old, and testing procedures back then were very crude.

Much to my surprise (and that of my gynaecologist), my test results came back as xy 91% / xo 9%. I suspect that my gynae still does not quite know what to make of it, and it has been an interesting journey over the past couple of years for myself and those I love.

After receiving the results, I went along to a geneticist with my husband in tow, and a long list of questions written down on a piece of paper in my hand. The geneticist was wonderful - in an hour and a half, he patiently answered all my questions and more, with just as much detail as I could handle. I discovered, quite by accident that, in his referral letter, my gynae had told him that I was well informed about Turner Syndrome, that I would be asking tough questions, but that I would be able to handle honest answers! God Bless wise and understanding gynaes!

What I understand now of what the Geneticist told me about the cause of the variations in mosaicism is this - if, in an xx/xo mosaic, daughter cells of the cell that did not lose its second chromosome are the ones that eventually formed the reproductive system, you would have a woman who may or may not have outward physical signs of Turner Syndrome (short stature etc.), and she should be at least partly fertile (although any pregnancies should be carefully monitored for abnormalities).

On the other hand, if it was a pure xo cell line that ended up being given the job of forming the reproductive system, she would be completely infertile, and would have a range of physical signs of Turners.

This is true even if the cells which did not lose their second chromosome are xy, as long as there are no xy cell lines in the reproductive organs themselves. If there are no xy cells present in the reproductive organs, the person will be usually be completely female, and Turner Syndrome, with a full set of female reproductive organs (but lacking functioning ovaries) like most Turner syndrome women. She will be infertile, but (everything else being equal) she and her husband would be perfectly acceptable candidates for the IVF programme. And she will be all woman.

That's me.

I have learnt, however, that it is unusual for xy/xo mosaics to end up like me. My very existence seems to be the result of a long, incomprehensible series of lotteries. I read the descriptions by Mums of their xy/xo sons, and I do not see myself; however, I do see a curiously mirror-reversed image of myself.

I have acknowledged the person I would have been had I been born male. I have even learnt what his name would have been. But he is not me.

Life is very mysterious!