May 31, 2007
by Sophie Siedlberg, Geneticist
Intersex News Service © OII
What happens when someone is born neither male nor female or born not fitting the clear definitions of male nor female? Let’s start this article with the same irritating tripe I keep reading. What do we do when a baby does not fit the classical idea of boy or girl? Now, how about the classic “what if baby does not fit the classic model of XX and XY”?
Well, there is a simple answer to that question. They are treated as an irrelevance and a nuisance, if they dare to aspire to anything in later life. Their “Betters” will always win any argument or score top of the class in any debate.
Guess who gets to the top of the class again this time? Professor Eric Vilain who seems to have a very short memory over his previous media gaffes and his previous stated motivations for his research. And guess who gets called “Dunce” and sent to the back of the class for pointing out the obvious flaws in what Eric Vilain comes out with? Muggins here of course.
Not this time. I have read and heard enough.
In the Scientific American Eric Vilain is on his latest big media excursion about how XX and XY are not the sole determinants of sex, which is correct but what he fails to mention was why he did research into things like WNT4.
Well, let’s just remind Eric:
“In one out of every 3,000 births, the physician cannot tell the new parents what some have waited to hear. But the results of a study described in the Journal of Human Genetics may offer new hope to parents whose infants are born sexually ambiguous. According to the report, researchers have determined that a second copy of a sex determination gene known as WNT-4 can change an embryo from male to female, which often results in ambiguous genitalia. The finding could help doctors more accurately and quickly identify an externally ambiguous baby's gender. (sic)”
In plain English we were informed that if a child is XY it should be male if XX it should be female, and any secondary sex determining genes (WNT4) that got in the way should be manipulated.
“Geneticist Eric Vilain of the University of California at Los Angeles and his colleagues identified WNT-4 as one of several genes that determine sex. Whereas most genetic defects stem from the absence or mutation of a gene, genital defects arise when WNT-4 appears twice on the chromosome. WNT-4, it seems, ‘influences the sex determination pathway at each step of the way,’ Vilain notes. ‘We discovered that when the amount of the gene fluctuates even slightly at any stage in the genetic blueprint, it changes the embryo from male to female’."
And the solution as well all know was:
“The WNT-4 study results will enable researchers to use genetic testing to help identify the causes of genital ambiguity. Moreover, scientists might one day even be able to treat a defective embryo in utero. "Our findings suggest that clinicians could identify the WNT-4 duplication prenatally," Vilain remarks. "If this proves true, in the future we may be able to correct the defect in the womb and restore the embryo to its original male status. This may repair the genital malformations before the child is born."
And now we read Eric Vilain saying XX and XY are not the sole determinants of sex in some politically correct manner. But talking about polygenic expression (While not using the term of course) Please note: I did sort of point out in my Article Gender Genital Gene Genie that Eric’s then approach of “Make to fit XX or XY” was not going to work. I also mentioned the notion of polygenic expression, describing in some detail how this works and why removing copies of WNT4 would be ill advised.)
Curious that? Considering I was not once spoken to and not once mentioned. We all know why. “XY born with penis to the top of the class. XY born without penis to the bottom of the class as the dunce.”
I was not that bothered by this in the past, because that is how things are. I didn’t quite get the glittering career he did because of an accident of birth. (This is what “Socio-medical emergency" truly means).
Look at what he says now:
“We've identified new molecular mechanisms of sex determination. In particular we've discovered genes, such as WNT4, that's female-specific and not present in males, and that's sort of shifted the paradigm of making a male as just activation of a bunch of male genes. In fact it's probably more complicated. What we've shown is that making a male, yes, is activating some male genes, but it's also inhibiting some antimale genes. It's a much more complex network, a delicate dance between pro-male and antimale molecules. And these antimale molecules may be pro-female, though that's harder to prove.”
Yes that is polygenic expression to mere mortals like myself. (Notice also the lengths to which I went to highlight this very model as far back as 1998, Do I get a look in, nope, I am a lab rat, not a scientist).
OK. This is all well and good. I know what people are thinking, that I am bitter and jealous and angry. Well actually this is not quite true, it is the simple fact that Eric Vilain seems only to recognize people in ISNA or other scientists who are like him on the social strata of “acceptable” considering he claims to be striving to give intersex people, (sorry, “Disordered people” Apparently “Intersex” is offensive and “disordered” is not) more dignity in life, he has a very funny way of showing it. You see not too long back I was asked “Why don’t you work with Eric, Hey I will speak to him see if we can get you to talk”.Since then I heard nothing. I think most people would be a little annoyed, but what I find particularly upsetting is the fact that what I was saying 6 years ago, in opposition to him, is what he is saying now. Because it is convenient to do so? However in doing this, he is contradicting himself.
By advocating “DSD” terminology and advocating the ethos behind it, he cannot realistically use concepts like polygenic expression to back up his case on that. Simply because the ethos of “DSD” is that anything that varies from XX = female XY = male is regarded as “Disordered”. So any variation in the autosomes or in the 23rd pair that contradicts XX = f and XY = m is by default a disorder that strays from the “ideal” model, but the ideal model is blunt ended and denies the value of polygenic expression as a model.
This translates into treatment protocols that Vilain has already suggested in the past which blatantly ignore the polygenic model “Delete this gene and all will be fine” (Well no, unless all the genetic interactions and pathways are mapped. there is a high likelihood of hidden consequences becoming apparent in a developing fetus that would be too late)
And this is a serious point, made over a number of years by someone trained as a geneticist (me) who really does not think that Eric Vilain is looking at the whole picture.
The point being, that while I do this, my opinion is invalidated (As a scientist) because I am intersexed, a patient myself. It is really that simple.
Again, I will put down the challenge and say to Eric Vilain that he either starts talking to those intersex people who actually understand the science he is discussing and drop the prejudice that intersex people cannot aspire to anything or understand the science, or face the hard truth that his credibility within the intersex community is going to disappear very fast. He cannot selectively quote his critics and not mention who they are and avoid answering their questions, especially if it is their own lives his work will ultimately affect.
While I do feel angry about his evasive approach with those concerned and the assumptions he evidently makes about who is OK to talk to and who is to be avoided, I will point this out again, those he is dealing with will not ask the plain awkward, technical questions some of us will. It is bad science to avoid those questions. Especially, when the people asking those questions are affected by whatever he comes out with.
And the final point is that yes, “Disorder of sexual /sex development” is not only offensive, it is downright demeaning. It represents a model that is contrary to the one he claims to preach by placing an ideal standard. An ideal standard that is peddled by the likes of J Michael Bailey for example. Where in the word “intersex” do we find meanings implying “Disorder, defective, damaged, wrong”? And I would say Intersex is more applicable than a term that could imply things like a man being unable to get an erection or a woman being unable to have an orgasm (The term “Disorder of sexual development applies to that equally as well in simple English whatever the spindoctoring claims).
The fact is I reject DSD. I reject all the politicking and contrary spin and I question the link between the “disordered” and polygenic expression. Logically Professor Milton Diamond’s term “Variations of sexual development” actually fits the model Vilain himself proposes better than “DSD” does. Because the word “Variation” explains the underlying model far better.
