February 9, 2020

New research indicates a connection between genes, hormones and gender dysphoria

Newsweek reports of a new study of 30 transgender men and women  diagnosed with gender dysphoria. The researchers found what they described as 21 "rare" variants in 19 genes, in pathways in the brain associated with the sex hormone estrogen.

This may indicate an association between some gene combinations and the development of transgender identities.

There is no single "trans gene"

Every time I see an article like this, I feel a strong need to bring in the wider context. There is no transgender gene, in the same way there is not gay gene. This we know. Sexualities as well as gender identities are the end results of a complex interplay between various factors.

These researchers say the same thing to Newsweek:
The authors stressed in the study that they were not looking for a so-called "transgender gene," which might wrongly suggest that those with this gender identity are ill in some way. 
[J. Graham] Theisen said gender is on a spectrum, in the same way that eye colour is. Rather, they wrote, the aim was to "understand the complexities of gender development through the lens of genetics." 
A person's "gender identity is more likely the result of a complex interplay between multiple genes as well as environmental and societal factors," they said. The team acknowledged that categories like "transgender male" and "transgender female" alone aren't enough to describe individuals who don't identify as cisgender. For instance, others might identify as non-binary, or in numerous other ways. 
"While, in some individuals, a single genetic variant may be sufficient to result in gender dysphoria, it does not follow that that particular variant would be necessary or sufficient to cause gender dysphoria in the population at large," they wrote. 
The researchers are looking to enlarge the study to include more trans people. A sample of 30 is a small one.

The potential danger of such studies

I know that some trans people argue that we should dismiss such studies altogether, as they may be used to invalidate trans people as ill or to distinguish between “real transgender people” and “trenders”. There is always a danger of that.

I still believe, though, that it helps to know as much as possible about what makes trans people trans, and that such research may give important input to that discussion. We should always be very critical, though. History is full of “experts” who thought they had “proved” that being gay or trans is a mental illness.

Triangulating the truth

Scientists are not standing “outside” society and culture, looking in with objective clarity. They are human beings, influenced as much by culture and prejudices as the rest of us. However, by comparing various studies and reports, from different institutions and disciplines, we may gain a better understanding of what is really going on.

To Newsweek Theisen says:
"The primary goal of our research is to gain a better understanding of the biologic component contributing to the spectrum of gender identities, and thus help our patients to gain a better understanding of themselves. Beyond that, we believe that with this enhanced understanding, we will be able to counter the discriminatory narrative that gender identity is a choice."
A lot of recent studies indicate that gender identity and gender expression can be influenced by the hormone environment in the womb.

Dr. Lawrence C. Layman, one of the scientists,  points out: Your sex organs do not determine your gender identity. "..[It's] whether estrogen, or androgen, which is converted to estrogen in the brain, masculinizes the brain during this critical [prenatal] period."

I suspect it is even more complex than that. Still, all of this clearly indicates that biology plays a part in gender identity formation. You do not chose to be trans, in the same way that you do not chose to be gay, lesbian or cis.

Newsweek has more.

Here’s the paper: The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants, by J. Graham Theisen, Viji Sundaram, Mary S. Filchak, Lynn P. Chorich, Megan E. Sullivan, James Knight, Hyung-Goo Kim & Lawrence C. Layman.

Photo of Drs. J. Graham Theisen (left) and Lawrence C. Layman (Phil Jones, Senior Photographer, Augusta University)

See also: EurekAlert.


  1. I read the article and it is quite fascinating Jack. Those of us who have been dysphoric since early childhood know that we did not invent the feelings and the fact that they are rooted in biology surprises none of us. Eventually they will find a biological correlation but it need not invalidate the fact that people have a right to express gender as they desire and whether they are dysphoric or not they should not be discriminated against.

  2. I agree. There is also another side to all this research. Transphobes constantly appeal to "science" when trying to invalidate trans people. But the truth is that the majority of scientists researching gender dysphoria and gender identity belong to the same tradition as these researchers.

    1. It's an incestuous grouping to be sure which is quite amusing. Preconceived thinking always makes for good science does it not? Lol

  3. About the potential danger of such studies I can say this. The scientific method is a self correcting process. You stick to that process and you'll do fine. The problem starts when you inject your own political views into it whether your left or right leaning. That's why a large part of the humanities are in shambles. Way to often they don't even bother to try to falsify their own claims. Science is about what is or isn't, not about what should or shouldn't.

  4. @Anonymous The problem is that all scientists, by necessity, take their own world views and preconceptions into their research. There is no way around this, as our very language and concepts shape they way we see things. This applies to the natural sciences as well as the humanities and social sciences.

    The necessary correction has to be given by the scientific process, as you point out, in the sense that if a sufficient number of scientists look at a particular phenomenon, the following debate will lead to a correction of the biases found.

    Unfortunately, this does not always work. For nearly a century science classified homosexuality as a curable mental disease. In the 19th and 20th century scientists over and over again "proved" that women were intellectually inferior to men. These men (and they were nearly all men) had been taught that this was the truth, and you found researchers like that everywhere: in the committees that hired professors, as journal panel experts, as friends and colleagues. You had to be very brave indeed to be able to argue against these "truths".

    There were a few who did go against the grain, like Hirschfeld and Kinsey, but they were few and far between.

    In the end new generations of researchers, who had grown up in a more open and tolerant culture, started to question the premises of the old way of thinking. They asked new kinds of questions, corrected the various biases found in the methodologies, and even redefined the concepts of mental illness. The fact that we got a lot of female scientists had a great effect.

    What I find fascinating about research on transgender conditions, is that most of the relevant research community is now trans positive. They want to help and destigmatize. They continue to work within the old research paradigms, however, which is why some of the results are problematic. This applies to the study I presented here as well.

    1. There is one problem however. Trans positive people also have their biases. Remember, a good scientist is neither trans positive or trans negative. A good scientist observes and reports without judgment. A good scientist detaches himself from the outcome he desires. The question is this: Purely hypothetically speaking, IF the evidence supports the transphobic view will you be willing to accept it?

    2. what is evidence?

    3. I totally agree with you. Science shouldn't be politically correct.

  5. I like neutrality which is what science expects until you conclusively prove something. Unfortunately what we have had are groupings like the Blanchardians who come in with unproven conclusions and take them to the bank as if they were cold hard cash which it most definitely is not.

    Trans people are constantly trying to protect themselves from attacks by those who are often least educated in a subject (the religious right comes to mind here). Sure would be nice, regardless of the science, if we just live and let live. Of course that isn't going to happen anytime soon .

    1. This is exactly why I'm equally troubled by the progressive left injecting their political views into science as well as the religious right. Science should never be politicized. It undermines everything science is.

    2. I can't agree more.

  6. sharing some person feels here...
    after ample mental digging around into concerns of gender I have concluded even if scientists come up with something to settle the dust around "what is trans" I don't think it's going to do anything for me. I think the evidence is clear as day in my day to day experience...
    The mirror don't lie.
    What else do I need? A certificate?
    I never got diagnosed with dysphoria.
    And I dont want to be.
    understanding "the complexities of gender development through the lens of genetics" may evoke curiosities of some intellectuals... It will certainly stir the hearts of transphobes waiting for that "AHA here's the evidence" moment against trans.
    its really a chess battle that only consists of checks.
    There is no checkmate.
    transphobes want to talk like they checkmate all day with chromosomes...
    The scientists seem disconnected from the heart of the matter.
    I'm like... just hang out and talk to someone who's trans if you want a clear picture.
    I think trans is comparable to glitch.


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