Tag Archives: USA

At the Intersection of Gender and Autism – Part 3

The final part of a great series on gender and autism from the point of view of a woman with autism.

One thing I found interesting was the ways autism may be hidden with girls. For example, the author of the article played with dolls, but she played with them by lining them up.

Musings of an Aspie

The final post of a three part series (read Part 2)

While many of the intersections of autistic and female in my life have been social, there are undeniable physical intersections too.

The arrival of adolescence brought with it hints of what it would mean to be an autistic adult. My first real meltdowns. My first experience with depression. My first confusing encounters with physical intimacy.

With nothing to compare those experiences to, I assumed they were a normal part of being a teenager. Everyone said that being a teenager was hard. I couldn’t dispute that. It didn’t seem necessary to look beyond the explanation of “this is hard for everyone.”

That would become a theme. Pregnancy. Breastfeeding. Postpartum depression. My body’s reaction to birth control pills. Countless books and magazine articles assured me that these things were no walk in the park. Not knowing that I was autistic…

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A review of “Gender Identity Disorder in Twins: A Review of the Case Report Literature”

The data on twins suggests that there is a genetic component to gender dysphoria.

It also suggests that other factors are involved in developing gender dysphoria.

Unfortunately, the data is weak because it is mostly made up of case studies.

In addition, the data on identical twins and the data on fraternal twins were collected in different ways.

It is possible that this review overestimates the influence of genes due to the way the data was collected.

I had thought that writing this review would be quick and easy; genes are involved, but they are not the only factor. The truth is that the data is flawed and we don’t have conclusive proof yet. What we do have is a suggestion that genes are involved in gender dysphoria and a need for more research in this area.

Data on twins with gender dysphoria is hard to collect because it is rare. This review is an important one and it shows that there are good reasons to keep looking for possible genetic links to gender dysphoria. It also shows that there are good reasons to look for non-genetic factors that play a role in developing gender dysphoria.

Now you have the summary of the results, back to the study. Why does it mattter if many of the reports on identical twins came from case studies?

Using case studies means that there is a possibility of selection bias.

People may be more likely to publish interesting cases. For example, the review includes one case study where both identical twins had gender dysphoria, but only one had schizophrenia. In another case study both identical twins had anorexia, but only one had gender dysphoria. These cases are interesting, but they may not be typical.

This can become a more serious problem if therapists are more likely to be interested in cases of twins who are both trans. Alternatively, there could be a selection bias in favor of writing about identical twins where only one twin is trans. Some therapists might unconsciously look for cases of twins that fit their own theory about the cause of gender dysphoria. (Read more about case studies and selection bias here.)

The results of this review suggest that there is a selection bias that favors identical twins over fraternal twins. In other words, people write up and publish cases of identical twins more often than fraternal twins.

This is not because trans people don’t have fraternal twins; the studies that reviewed clinic records found 19 sets of fraternal same-sex twins and only 7 sets of identical twins. Only 27% of the twins in this group were identical twins. This is not surprising; fraternal twins are more common than identical twins in the general public.

The other studies, in contrast, reported on 16 sets of identical twins and only 2 sets of fraternal twins. A whopping 89% of the twins in this group were identical twins.

The key to figuring out if gender dysphoria is genetic is to compare identical twins and fraternal twins. If identical twins are more likely to both have gender dysphoria than fraternal twins, you have a good case for a genetic contribution. So if the sets of identical twins are chosen in a different way from the sets of fraternal twins, you have a problem.

In fact, for this study most of the data on identical twins is coming from case reports; there might be a selection bias involved there. Almost all of the data on fraternal twins, however, is coming from comprehensive reviews of clinic records.

Reviews of case studies include a number of other problems.

You can’t be sure people are being diagnosed in the same way; you may not be looking at the same phenomenon. This review looked at people diagnosed by different therapists in at least ten different countries.* The dates of the studies ranged from 1956 to 2011. Some of the twins were children or teens, some were adults.

There may also be cultural or environmental differences that are relevant. For example, one of the case studies is of a pair of identical twins in Iran. Both twins are trans. We know that many people feel pressured to transition in Iran; what if that is a factor in this particular case? What if in another country, only one of the twins would have transitioned?

The era of the study might also affect gender dysphoria. For example, the Belgian clinic noticed that two of the fraternal twins with gender dysphoria they found had been born after in vitro fertilization. If IVF is a factor in gender dysphoria, it will only affect later cases.**

The data in case studies is not uniform; this makes it hard to compare. For example, one study discussed birth weights while another focused on relationships with parents.

This review of studies did include three sets of twins who were found in a method that did not have a selection bias or problems with inconsistent collection of data.

1) Zucker looked at the records of 561 patients who went to a Canadian clinic for gender dysphoria between 1976 and 2011 and found 25 sets of twins. The patients were all under 12 years old.

They found no cases where both twins had gender dysphoria.

2) Heylens and De Cuypere looked at 3 sets of adult twins from the 450 patients who went to a Belgian gender clinic between 1985-2011 plus 3 sets of non-adult twins who went to the Belgian gender clinic for children and teenagers.

They found only one case where both of the twins had gender dysphoria: a set of identical twins who were female-to-male transgender (FtM).

3) Vujovic et al reviewed all the cases of gender dysphoria who were treated at a Serbian clinic between 1987 and 2006. Out of 147 people, one trans man and one trans woman had a fraternal twin. Neither of their twins had gender dysphoria.

If we exclude case studies because of possible bias, we end up with no genetic component to gender dysphoria in trans women. None of the clinics found pairs of male twins who both had gender dysphoria.

The problem with this approach is that identical twins who are both male-to-female transsexuals exist. They just didn’t show up at these three clinics. Presumably, they are very rare.

Using the clinic studies for trans men we would have one set of identical Belgian twins who both had gender dysphoria, and one set of identical Canadian twins who did not. In addition, we would have three sets of fraternal twins where only one twin had gender dysphoria. This is not enough data.

So it makes sense to look at the data from individual case studies; we just need to be cautious about interpreting it. It is possible that it would over or underestimate the genetic component to gender dysphoria.

What was the data, then?

The authors searched the literature and put their data from the three clinics together with data from 17 different case reports and studies.***

They found:

FtMs with identical twins

3 sets of identical twins who both had gender dysphoria (37.5%)

5 sets of identical twins where only one of the twins had gender dysphoria (62.5%)

FtMs with fraternal twins

5 sets of fraternal twins where only one of the twins had gender dysphoria (100%)

MtFs with identical twins

6 sets of identical twins where both twins had gender dysphoria (40%)

9 sets of identical twins where only one twin had gender dysphoria (60%)

MtFs with fraternal twins

16 sets of fraternal twins where only one twin had gender dysphoria (100%)

Based on this data, identical twins with gender dysphoria are more likely than fraternal twins or the general public to have a twin with gender dysphoria. This suggests a genetic component to gender dysphoria.

However, most of the time, only one identical twin has gender dysphoria. This suggests other factors are involved in gender dysphoria.

At this point, we have no idea what the other factors involved might be. The case reports don’t give enough information on the twins to figure it out. The information they give is inconsistent; one study reported on the age of the first period while another talked about whether or not the mother was domineering. In addition, we may be comparing apples and oranges; for example, one study looked at an adult male American Indian in 1976, another looked at 13 year old American females in 1992.

The authors of the review conclude:

“The etiology of GID is a complex process of biopsychosocial components with unexplained interactions. Twin literature on GID supports the contribution of genetic factors to the development of gender identity with a higher tendency in males than in females.****

Since sample size is still limited and genotype studies are lacking, conclusions must be drawn with caution.

Therefore, detailed registers of GID twins, preferably on MZ twins discordant for GID and DZ twins are needed, to gain more decisive information about the influence of genetic vs. environmental factors in the development of GID.

The authors of the study combine the data from studies of MtF and FtM twins for the statistical analysis. This gives them 9 pairs of identical twins where both twins had gender dysphoria (39%) and 14 pairs of identical twins where only one twin had gender dysphoria (61%). This is contrasted with 21 sets of fraternal twins where only one twin had gender dysphoria (100%). The difference is statistically significant.

This might be problematic since the mechanism that causes gender dysphoria in trans women is probably different from the mechanism that causes gender dysphoria in trans men. The genes are also probably different.

On the other hand the question here is whether or not gender dysphoria is inheirited, so perhaps this works.

Another problem is the possibility of selection bias. It looks like people are over-reporting cases involving identical twins. This might affect comparisons between identical twins and fraternal twins.

In addition, the total size of the group used in their statistical analysis is small and includes disparate groups – males and females, adults and children, people in different countries, and people living in different eras.

In the end, we’re left with weak evidence for a genetic component to gender dysphoria. We can’t prove it, but there is an excellent case for doing more studies in this area.

There is also an excellent case for future studies looking at what factors make one identical twin have gender dysphoria and one not. This seems to be the more common outcome than for both twins to have gender dysphoria.*****

Original Review:

Gender Identity Disorder in Twins: A Review of the Case Report Literature by Heylens G, De Cuypere G, Zucker KJ, Schelfaut C, Elaut E, Vanden Bossche H, De Baere E, T’Sjoen G in J Sex Med. 2012 Mar;9(3):751-7.

 

*Authors of the studies were from Belgium, Canada, Germany, Iran, Israel, the Netherlands, Serbia, Switzerland, the United Kingdom, and the United States. In addition, one author seemed to be from Scandinavia, possibly either Norway or Sweden.

**Using IVF means that the parents were infertile. It might be that the parents were older or that they had something wrong with their reproductive systems. It could be that the parent’s age or fertility problems affected the children rather than the IVF procedure.

***In some cases, it is hard to tell from the title if an article was a study or case report or an article on gender dysphoria that includes information on a case. Then again, the sub-title of this study is “A review of the case report literature,” so maybe they were all case reports.

**** I think the idea that there is a higher tendency in males than females is overstated. There were only 8 pairs of identical FtM twins and I doubt the 2.5% difference in the frequency of FtM versus MtF identical twin pairs who both have gender dysphoria is significant.

***** There may be selection bias in the cases of identical twins from the case reports. However, the clinic studies did find six sets of identical twins. In five of these six pairs, only one twin had gender dysphoria. Specifically, they found four pairs of identical male twins where only one twin had gender dysphoria, one pair of identical female twins where only one twin had gender dysphoria, and one pair of identical twins who were both FtM. So it looks like it is more common for only one identical twin to have gender dysphoria.

Emphases added are mine, including in the quote from the original review of the literature.

At the Intersection of Gender and Autism – Part 2

“Perhaps rather than extreme male brains, autistic women have extreme individual brains. As a group we seem to be less influenced than typical women by the roles society expects us to play.”

Part 2 of the 3 part series by a woman with Aspergers.

A moving account of being a mother with autism as well as a discussion as growing up as a girl with autism.

Musings of an Aspie

Continued from Part 1

There was joy in that realization and also sadness. My diagnosis came too late to help me in my role as a mother when my daughter was young, a role that I often struggled with. Many aspects of being autistic can make the child-rearing years of motherhood challenging.

Babies have round-the-clock needs. They’re stressful, messy, unpredictable and demanding. Basically they are everything that an autistic person finds hard to cope with. Gone was my precious alone time. Gone were my carefully crafted routines. Even my body was no longer my own, transformed first by pregnancy then by postpartum hormones and breastfeeding.

I was completely unprepared for how hard motherhood would be. Unaware that I was autistic, I often felt like a bad mom. What kind of mother breaks down sobbing uncontrollably and bangs her head against the dining room wall? Certainly none that I was aware…

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At the Intersection of Gender and Autism – Part I

“At five, I wanted to be a boy” – the viewpoint of a woman with Aspergers.

This is a great essay with interesting insights into gender and autism.
The essay is featured in the book Ultraviolet Voices: Stories of Women on the Autism Spectrum.

The only bad thing about this essay; it’s part 1 of 3. We’re going to have to wait to read the rest.

Musings of an Aspie

Note: This is my contribution to the Ultraviolet Voices anthology. It’s nearly 5000 words long, so I’m going to serialize it here over the next 3 weeks.  

At five, I wanted to be a boy. I don’t know what I thought being a boy meant. Maybe I thought it meant playing outside in the summer, shirtless and barefoot. Maybe I thought it meant not wearing dresses.

Dresses were all scratchy lace trim and tight elastic sleeves. Stiff patent leather shoes pinched my sensitive feet. Perfume tickled my nose. Tights made my legs itch and had maddening seams at the toes.

Too young to understand sensory sensitivities, I followed my instincts. While other girls favored frilly clothes, I gravitated toward the soft comfort of cotton shirts and worn corduroys.

Somehow, comfort got mixed up with gender in my head. For decades, “dressing like a girl” meant being uncomfortable. And…

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Genes and Gender Dysphoria

Twin and family studies suggest that there may be a genetic component to gender dysphoria. Researchers have naturally been trying to find genes linked to gender dysphoria.

Most of the research has focused on genes that are known to be related to sex hormones in some way.

I. Researchers may have found genes related to gender dysphoria in trans men (born female).

A large Spanish study found an association between the gene for Estrogen Receptor β and gender dysphoria, but a medium-sized Japanese study did not.

A small Austrian study found an association between gender dysphoria and a different gene related to converting progesterone into androgens. Nobody else has looked at this gene.

A possible flaw with the Austrian study is that the control females were seeking help with perimenopausal issues; it may be that their genes were different from the general public.

Both of these results need to be replicated.

It is also possible that the genes were related to sexual orientation.

In the Spanish study, all of the trans men were attracted to women; it is likely that 95% of the control women were attracted to men.

The Austrian study does not talk about sexual orientation, but typically most trans men are attracted to women and most women are not.

Many control women also had the genetic variations found in trans men. Some other genes or environmental factors must also be involved.

These results need to be replicated. The Austrian study was relatively small and possibly flawed while the Spanish and Japanese studies contradict each other.

II. Researchers thought they had found genes related to gender dysphoria in trans women (born male), but larger studies did not replicate the results. It is possible, however, that the genes related to gender dysphoria are different in different populations.

Four studies looked at genes related to sex hormones, specifically genes for estrogen receptor β, androgen receptor, and CYP19A1. CYP19A1 encodes aromatase, an enzyme involved in turning androgens into estrogens.

None of the studies found a relationship between gender dysphoria and the gene for CYP19A1.

Three studies found no difference in the gene for estrogen receptor β; the study that found a difference was much smaller than the others.

Three studies found no difference in the gene for androgen receptor, including one study of over 400 trans women.

III. An Italian study that looked at the Y chromosome found no differences between trans women and control males.

IV. An Austrian study that looked at sex chromosomes in trans women and trans men found no significant abnormalities.

V. A Japanese study that looked at genes related to estrogen receptor alpha and progesterone receptor found no differences between the genes of male to female transsexuals and male controls or the genes of female to male transsexuals and female controls. This study also looked at estrogen receptor β, androgen receptor, and CYP19A1 and found no differences for those genes either; this is one of the studies discussed above.

VI. An Austrian study of a gene related to steroid 5-alpha reductase (SRD5A2) found no differences between trans women, trans men, and male and female controls. SRD5A2 is involved in the conversion of testosterone to dihydrotestosterone.

It is important to remember that there may be some other genetic variations that are linked to gender dysphoria in trans women, something that we haven’t studied yet.

At this point, however, we do not seem to have found genes related to gender dysphoria in trans women.

Recommendations for future research:

Look at genes other than the ones related to sex hormones or sex chromosomes. Perhaps the cause of gender dysphoria is different from what we expect.

Control for sexual orientation by including some cis lesbians and gay men in the study.

Study trans people with African ancestry – and other groups that have not yet been studied. Studies so far have looked at people from Spain, Italy, Japan, Austria, America and Australia (Caucasian only), and Sweden.

For more details on the studies, see the links and comments below.

STUDIES OF TRANS MEN (Born female)

2014:

The (CA)n Polymorphism of ERβ Gene is Associated with
FtM Transsexualism – This Spanish study compared the genes of 273 female to male transsexuals and 371 control females. As in the study of trans women below, they focused on three variable regions of genes: estrogen receptor β (ERβ), androgen receptor, and CYP19A1 which encodes aromatase, an enzyme involved in turning androgens into estrogens.

They found no connection between the genes related to androgen receptors or aromatase, but they did find an association between the ERβ gene and gender dysphoria in trans men.

“The repeat numbers in ERβ were significantly higher in FtMs than in control group, and the likelihood of developing transsexualism was higher (odds ratio: 2.001 [1.15-3.46]) in the subjects with the genotype homozygous for long alleles.”

Three caveats:

All the trans men participating in the study had gender dysphoria that began before puberty and were attracted to women (i.e. members of their biological sex). The control females were probably 95% straight. It is possible that the genetic difference they found is related to sexual orientation, not gender identity.

This is not an absolute difference, it is a difference in frequency – 69% of the trans men had the long allele for ERβ, but so did 59% of the control women. Some other genes or environmental factors must also be involved in gender dysphoria (or sexual orientation).

The study below found different results; however, this study was larger.

note: All participants in the study were of Spanish origin.

2009:

Association study of gender identity disorder and sex hormone-related genes.

This Japanese study compared 74 male-to-female transsexuals, 168 female-to-male transsexuals, 106 male controls, and 169 female controls. They looked at genes for androgen receptor, estrogen receptors alpha and beta, aromatase, and progesterone receptor.

They found no differences between the genes of male to female transsexuals and male controls or the genes of female to male transsexuals and female controls. 

“The present findings do not provide any evidence that genetic variants of sex hormone-related genes confer individual susceptibility to MTF or FTM transsexualism.”

The abstract does not provide any information on the demographics of the trans women and trans men.

The results of this study for ERβ contradict the results of the Spanish study. The Spanish study looked at 273 trans men while this study only looked at 74, so it is unlikely that the Spanish study is simply wrong.

It may be, however, that this study is still right, at least in Japan. People in different countries have different genes; they may have different genes for gender dysphoria.

It is possible that cultural differences or medical policies may mean that clinics in different countries are looking at groups of people with different problems.

Finally, gender dysphoria might be caused by different factors or combinations of factors in different cultures. Japanese trans men may be different from Spanish trans men in some important way.

2008:

A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to-female transsexualism.

This Austrian study compared 102 male to female transsexuals to 756 male controls and 49 female to male transsexuals to 915 female controls.

A possible flaw in this study is that the females controls were women seeking help with perimenopausal disorders; they may have had genes that were different from the general population. The male controls, on the other hand, were “participating in a health prevention program.”

Since the results found that the frequency of a particular mutation was different in female controls from all of the other groups, it matters a great deal if the control females are significantly different in some other way from the other participants.

This study looked at a different gene from the other studies, CYP17. CYP17 encodes cytochrome, an enzyme involved in converting progesterone and pregnenolone into androgens.

The authors found that a particular mutation of this gene, CYP17 −34 T>C, was associated with female to male transsexualism, but not male to female transsexualism.

They also found that, “the CYP17 −34 T>C allele distribution was gender-specific among controls. The MtF transsexuals had an allele distribution equivalent to male controls, whereas the FtM transsexuals did not follow the gender-specific allele distribution of female controls but rather had an allele distribution equivalent to MtF transsexuals and male controls.” 

In other words, trans men and trans women were similar to male controls and not female controls.

They point out, however, that there were women without gender dysphoria who had the mutant allele as well as women with gender dysphoria who did not have it. “Thus, carriage of the mutant CYP17 T−34C SNP C allele is neither necessary nor sufficient for developing transsexualism.”

In other words, there must be other genetic or environmental factors involved.

They do not discuss the sexual orientation of the participants in the study. As discussed above, it is possible that most of the trans men were attracted to women and that this genetic mutation is related to sexual orientation, not gender identity.*

Finally, I keep coming back to the female control group. What if converting progesterone to androgens is related in some way to perimenopausal symptoms? What if the mutant gene protects against problems in menopause somehow and so the female control group includes fewer people with this gene?

2007:

A common polymorphism of the SRD5A2 gene and transsexualism. This Austrian study compared 100 trans women, 47 trans men, 755 control men, and 915 control women. They looked at a mutation of the steroid 5-alpha reductase gene (SRD5A2); this gene produces an enzyme that catalyzes the conversion of testosterone to dihydrotestosterone.

They found no differences between any of the groups. The mutant allele was not associated with transsexualism and its distribution was not gender specific among controls.

This study has the same flaw as the 2008 study listed above; the control females were all seeking help for problems with perimenopause.

2002:

Sex chromosome aberrations and transsexualism. This Austrian study looked at the chromosomes of 30 trans women and 31 trans men. They did not find significant abnormalities, although they suggested further investigation might be worthwhile.

“We could not detect any chromosomal aberrations with the exception of one balanced translocation 46,XY,t(6;17)(p21.3;q23). Importantly, no sex chromosomal aberrations, which would be detectable on the G-banded chromosome level, have been observed.”

They conclude:

“The data described here provide evidence that genetic aberrations detectable on the chromosome level are not significantly associated with transsexualism. In addition, molecular-cytogenetic FISH analyses did not reveal deletions of the androgen receptor gene locus on chromosome Xq12 or of the SRY locus on chromosome Yp11.3. Multiplex PCR analyses demonstrated one AZF deletion in a male-to-female transsexual.”

but:

“However, the detection of one carrier of a Y chromosome microdeletion out of 30 male-to-female transsexuals could argue for further investigations. This is of special interest in light of the recent discussion of gamete banking before hormonal and sex reassignment surgery of transsexuals.”

 

STUDIES OF TRANS WOMEN (Born male)

The Y Chromosome:

2013

Hormone and genetic study in male to female transsexual patients. This Italian study looked at six areas on the Y chromosomes of 30 trans women. They found no abnormalities.

“This gender disorder does not seem to be associated with any molecular mutations of some of the main genes involved in sexual differentiation.”

The trans women were aged 24-39 and had already begun hormone therapy. A little over half of them had already had sex reassignment surgery and the rest were waiting for it.

2002:

Sex chromosome aberrations and transsexualism. This Austrian study looked at the chromosomes of 30 trans women and 31 trans men. They did not find significant abnormalities, although they suggested further investigation might be worthwhile.

For further details, see the description above under trans men.

Genes Related to Sex Hormones:

2007:

A common polymorphism of the SRD5A2 gene and transsexualism. This Austrian study looked at a mutation of the steroid 5-alpha reductase gene (SRD5A2. They found no differences related to gender or gender identity. For more details, see the description above in the section on studies of trans men.

The following studies looked at the same areas of genes related to sex hormones.

Initially, a small Swedish study of trans women (born male) found a difference in the length of the estrogen receptor β repeat polymorphism, but none of the other studies did.

Similarly, an American-Australian study found that trans women had longer repeat lengths for the androgen receptor allele, but none of the other studies did.

It looks like these genes do not affect gender dysphoria in trans women, although it is possible that different genes affect people in different countries.

2014:

Association Study of ERβ, AR, and CYP19A1 Genes and MtF Transsexualism – This Spanish study compared the genes of 442 trans women and 473 control males. They focused on three variable regions of genes: estrogen receptor β, androgen receptor, and CYP19A1 which encodes aromatase, an enzyme involved in turning androgens into estrogens.

They found no connection between these genes and gender dysphoria.

Interestingly, 98% of the trans women had chromosomes that were 46,XY, i.e. normal, but 2% of the group showed aneuploidy, or abnormal chromosomal numbers. This is slightly higher than usual.

The abstract does not go into detail, but presumably the aneuploidies were cases of Klinefelter syndrome; a condition where a person typically has one Y chromosome and two X chromosomes. Most people with Klinefelter’s syndrome identify as male, but there may be a higher than usual occurrence of gender dysphoria among people with Klinefelter’s.

There are no details on the trans women in the abstract; however, the same researchers did a very similar study of trans men (see above). It may be that the participants in the two studies were screened in the same way.

2009:

Association study of gender identity disorder and sex hormone-related genes.

This Japanese study compared 74 male-to-female transsexuals, 168 female-to-male transsexuals, 106 male controls, and 169 female controls. They looked at genes for androgen receptor, estrogen receptors alpha and beta, aromatase, and progesterone receptor.

They found no differences between the genes of male to female transsexuals and male controls or the genes of female to male transsexuals and female controls. 

“The present findings do not provide any evidence that genetic variants of sex hormone-related genes confer individual susceptibility to MTF or FTM transsexualism.”

The abstract does not provide any information on the demographics of the trans women and trans men.

Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.

This Australian and American study compared 112 male to female transsexuals to 258 control males. They looked at genes for androgen receptor, estrogen receptor beta, and aromatase. No differences were found for the estrogen receptor or aromatase, but transsexuals had longer repeat lengths for the androgen receptor allele.

“This study provides evidence that male gender identity might be partly mediated through the androgen receptor.”

This result was not found in the Spanish study or the Japanese study above. The Spanish study was larger than this one. Thus, this result has not been replicated.

However, it is possible that this genetic variation is connected to gender dysphoria for Caucasian trans women in America and Australia, but not in Spain or Sweden and not for Japanese trans women.

It is also possible that the genetic difference found here is related to sexual orientation, not gender identity. The researchers in this study only knew the sexual orientation for about 40% of the participants in the study, but people with gender dysphoria are much more likely to be attracted to people of the same biological sex than people without gender dysphoria.

As in the Spanish, study above, this is not an absolute difference, it is a relative one. There were also cis men who had long AR repeat lengths (Figure 1). Again, some other genes or environmental factors must also be involved in gender dysphoria (or sexual orientation).

The trans women in this study were all Caucasian; 76 of them were from an Australian clinic and 36 of them were from UCLA in America. Almost all of them were on hormones. Some of them had gender dysphoria in childhood. “The sexuality is only known for approximately 40% of patients, because some patients did not wish to discuss or disclose this information or the patient’s sexuality was flexible and not easily classified.”

2005:

Sex steroid-related genes and male-to-female transsexualism.

This Swedish study compared the genes of 24 male to female transsexuals and 229 male controls. They looked at specific areas in the androgen receptor gene, the aromatase gene, and the estrogen receptor β gene.

They did not find a difference between male-to-female transsexuals and men for the first two genes, but they did find a difference related to the gene for estrogen receptor β. “Transsexuals differed from controls with respect to the mean length of the ERβ repeat polymorphism.”

In addition, “binary logistic regression analysis revealed significant partial effects for all three polymorphisms, as well as for the interaction between the AR and aromatase gene polymorphisms, on the risk of developing transsexualism.” 

The study was very small, however, and as the authors said, “results should be interpreted with the utmost caution.”

The three more recent studies above did not replicate the findings of this study. The other studies were much larger than this one, so it is possible that these results were a fluke.

It is also possible, that the genes linked to gender dysphoria in Sweden are different from the genes linked to it in other countries.

The authors of the American-Australian study described above say, “Our sample size was approximately four times larger than that of the Swedish study, so it is possible that the former study was underpowered to detect a false positive. Alternatively, there might be differences between Swedish and non-Swedish populations in this polymorphism. In the Swedish study, the long repeat occurred in 51.8% of control subjects and 67.1% of transsexuals, whereas in the present study the long repeat occurred in 36.5% of control subjects and 44.1% of transsexuals. Thus, although there was a trend in the same direction in both studies, there are major differences in prevalence of these long repeats between the two populations.”

The only data we have on the participants in the study are that the trans women were Caucasian and the vast majority of the controls were also Caucasian. Again, it is likely that there was a higher percentage of people attracted to male in the group of trans women than the general population; this might have affected the results.

As the authors point out, “the gene variants investigated in this study are relatively common, none of the studied variants could hence be assumed to be the primary cause of this condition.” Rather, genes might increase or decrease the chance of developing gender dysphoria.

So, if the results of this study are not a fluke, we are still left with the questions of what other factors contribute to developing gender dysphoria and is this a gene related to gender dysphoria or sexual orientation in Sweden?

The end result of all this:

We have a couple of possible candidates for genetic variations related to gender dysphoria in trans men, but we need further studies. We need to replicate the results and to control for sexual orientation. In the case of the CYP 17 gene, we need to compare trans men to healthy control females instead of women with perimenopausal issues.

We don’t have any strong candidates for genetic variations related to gender dysphoria in trans women. Future studies might do well to look for genes that are not related to sex hormones. As always, they should control for sexual identity. (This should be done by adding lesbians and gay men without gender dysphoria, not by excluding trans women who are attracted to women from the studies. See my rants in articles on brain sex.)

 

*A group of trans women would include many more people attracted to men than a group of control males, but typically about half of trans women are attracted to women while most trans men are attracted to women. Thus this could be a comparison of two groups (control males and trans men) where a large majority of the people are sexually attracted to women, one group where half the people are attracted to women (trans women), and a group where about 5% of the people are attracted to women (control females).

Most Autistic People Have Normal Brain Anatomy – Neuroskeptic | DiscoverMagazine.com

Neurosceptic has a good article up about an important new study of brain structure and autism.

The study found very few differences between the brain anatomy of people with autism and people without it. It was a large study and calls into question earlier studies that found differences.

A troubling finding was that when they made the sample size smaller, they found more differences.

Since brain studies of gender identity involve small samples, this raises an important question: are we seeing real differences, or would they disappear with a larger study like this one?

There are some questions for this new study of autism, of course. A few points from the blog and comments:

There may still be other differences in the brain, either smaller brain structures or differences in function.

It could be that there is more than one type of autism and they look different in brain scans.

The study only looked at people with autism who were high-functioning; perhaps that made a difference.

Anyhow, enjoy Neurosceptic’s article:

Most Autistic People Have Normal Brain Anatomy – Neuroskeptic | DiscoverMagazine.com.

Embodiment: Healing from Body Trauma and Dissociation

This is an amazing article from a trans woman about healing and becoming connected to your body. She discusses dissociation, embodiment, walking meditation, doing a body scan, and dance.

One of my deep convictions is that we need more research on multiple therapies for gender dysphoria. We lack studies, but we do have personal research from trans people’s lives.

From the article:

This is Not About Detransition

This is about helping you feel embodied.  Maybe that was your initial hope in transition?  I have transitioned, and it didn’t fix these dissociated symptoms.  Anecdotally most trans women I know still struggle with these issues after transition.  It’s important to remember that dissociation is a coping mechanism that we learn.  It makes sense that learned behavior would carry through transition.  I don’t care if you detransition or don’t.   I care that you heal.  Do what you want to do, with open eyes.