- Opening the lines of communication between research scientists and the wider community
- Expertise. Insights. Illumination.
- Sex-determination system
- Sex chromosome
- Intersex: MedlinePlus Medical Encyclopedia
I was hoping the answer would have been, "Because they made me be the dad," for I would have much rather dealt with a daughter not standing up to her classmates than a child who was starting to tell us, in the only way a child of that age knew how, that there was a disconnect between mind and body. The early years were filled with more of these types of anecdotes than I care to remember, each one providing varying degrees of uneasiness for my husband and me.
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But it was the revelation Sam came home with in third grade that provided us with that proverbial "aha! In third grade students at our local public elementary school get their first lesson on the subject of chromosomes -- nothing too complex, mind you, just the basic information. As it turned out, that day proved to be a monumental one for Sam, who jumped off the bus in the afternoon eager to share something important. Sam continued, "Something happened to my Y: It was supposed to be a Y, but it turned into an X erasing the bottom stem of a sloppily drawn Y , and that is why I am a girl when I was really suppose to be a boy.
Opening the lines of communication between research scientists and the wider community
All I could feel at that moment was an excruciating pain in my heart as I thought about the magnitude of the internal struggle my child must be enduring to come away with this self-diagnosis from a simple third-grade science lesson. I did not try to deny Sam's feelings any longer; instead, I called my husband at work to share Sam's revelation.
It was on that afternoon that we both knew we were facing something bigger than we had once thought, something that was never a phase or a choice. While difficult at the time, we will always reflect positively on that day, for it marked the beginning of our journey down a new path -- one that would help our child become who he was really meant to be.
Having a testis determines maleness, not having a testis determines femaleness. The ovary is not sex-determining. It will not influence the development of the external genitalia. Now in when the karyotype of Klinefelter [a male who is XXY] and Turner [a female who has one X] syndromes was discovered, it became clear that in humans it was the presence or the absence of the Y chromosome that's sex determining.
Because all Klinefelters that have a Y are male, whereas Turners, who have no Y, are females. So it's not a dosage or the number of X's, it's really the presence or absence of the Y. So if you combine those two paradigms, you end up having a molecular basis that's likely to be a factor, a gene, that's a testis-determining factor, and that's the sex-determining gene.
So the field based on that is really oriented towards finding testis -determining factors.
What we discovered, though, was not just pro-testis determining factors. There are a number of factors that are there, like WNT4, like DAX1, whose function is to counterbalance the male pathway.
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I don't know why it's necessary, but if they're doing this then probably they're here to do some fine-tuning at the molecular level. But these antimale genes may be responsible for the development of the ovary. And WNT4 is likely to be such a factor. It's an ovarian marker now, we know. Is the conceptual framework for sex determination changing, then, because of these discoveries?
I think the frame has slightly changed in the sense that even though it's still considered that the ovary is the default pathway, it's not seen as the passive pathway. It's still "default" in the sense that if you don't have the Y chromosome, if you don't have SRY, the ovary will develop.
That really has changed, and WNT4 is one of the reasons for it.
Expertise. Insights. Illumination.
What do you feel are your group's most important contributions to the sex biology field so far? The two things that we contributed was, one, to find the genes that are antimale, and reframing the view of the female pathway from passive to active. And the second thing is in the brain. We're the first ones to show that there were genes involved in brain sexual differentiation, making the brain either male or female, that were active completely independently from hormones.
Those were probably our two main contributions. Do you think this difference in gene expression in the brain explains anything about gender identity? About identity, it says nothing [yet].
It might say something. So those genes are differentially expressed between males and females early during development.
They're certainly good candidates to look at to be influencing gender identity, but they're just good candidates. At a recent international meeting to discuss management of people with genital and gonadal abnormalities, you successfully pushed for a change in nomenclature. Instead of using terms such as "hermaphrodite" or even "intersex," you recommended that the field use specific diagnoses under the term, "disorders of sex development.
For the past 15 to 16 years now, there really has been an explosion in the genetic knowledge of sex determination. And the question being, how can we translate this genetic knowledge into clinical practice? So we said maybe we should have a fresh approach to this. The initial agenda was to have a nomenclature that was robust but flexible enough to incorporate new genetic knowledge. Then we realized there were other problems that were in fact not really genetic, but that genetics could actually answer them.
Ultimately individuals who are intersex will each have their diagnosis with a genetic name. It's not going to be some big, all-encompassing category, like "male hermaphrodites.
It's much more medical. The majority of health care professionals were very happy with it. There were some, there was a conservative side that said, "Why change something that was working? So it required a little bit of education, saying, you know, it's important not only because it's more precise and it's more scientific, but also the patients would benefit from it by removing the word "hermaphrodite" and so forth.
About the change to disorders of sex development, there was no issue at all in the group. The one piece in the nomenclature that remains highly controversial is the replacement of "intersex" with "disorders of sex development. One is that intersex was big. Sometimes we wouldn't know who to include and who not to include. For instance, if there are chromosomal abnormalities, if you have a patient who is missing one X chromosome—Turner syndrome—or having an extra X—Klinefelter's syndrome—both those, now we do include them in "disorders of sexual development.
They do belong in this large category of people with "medical problems," quote-unquote, of the reproductive system. So intersex was vague, DSD is not vague. There was another issue with the old nomenclature, which was the actual word, "hermaphrodite. It also had some sexual connotation that would attract a flurry of people who have all sorts of fetishes, and so the intersex community really wanted to get rid of the term.
Intersex: MedlinePlus Medical Encyclopedia
People like Cheryl would say intersex issues are not issues of gender identity, they are just issues of quality of life—whether early genital surgery was performed appropriately or not, and that's really what has impaired our quality of life. She and others at ISNA do support the change because of an interesting side effect—because it becomes a very medicalized definition, the medical science should apply.
It should apply strongly. That means it's not as if now we're talking about something that's not a disorder, that is just a normal variant, a condition. If it's just a condition that's a normal condition, then there is no need for medical attention. So basically my point of view is really, let's separate the political from the medical, the science.
There's a whole psychology to this, you know, the surgeons often are under the impression that there is this tiny, vocal minority of activists who just want to destroy their work.
Intersex individuals are really distinct from, for instance, the gay and lesbian community that does not have any a priori medical issue, there is no difference in the development of any of the organs, or they don't need to see a doctor when they're a newborn. I think it's quite different. Sure, some intersex are gay or lesbians, but not all are. Because otherwise nothing would have changed in the practice.