Ambiguous Medicine and Sexist Genetics

Ambiguous Medicine and Sexist Genetics: A Critique of the DSD Nomenclature

By M. Italiano, M.B.B.S. (A.M.) and Curtis E. Hinkle

© Aug. 8, 2008

Online at: http://www.intersexualite.org/sexist_genetics.html

Many intersex persons around the world and their allies are concerned about the new nomenclature, DSD or “Disorders of Sex Development”, which has been endorsed by the Chicago Consensus (1) to replace the term “intersex”. We believe that the categories proposed are not only demeaning, but also scientifically flawed.

The age of chromosomes

The DSD nomenclature uses chromosomes, instead of gonads, as the most important classifier of an individual's sex, such as “46,XY DSD” and “46,XX DSD”. This is no more helpful than using male pseudohermaphroditism or female pseudohermaphroditism which was based on gonads. (2) Instead of male pseudohermaphroditism and female pseudohermaphroditism, the new DSD nomenclature proposes “46, XY DSD” and “46, XX DSD” as replacements for the former taxonomy.

Furthermore, what was called true hermaphroditism is now dichotomized to fit more neatly within the binary. True hermaphroditism used to be called “true” because it meant that an individual had both ovarian and testicular tissue and gonads (ovaries and testicles) were considered to be the “true” determiner of one’s sex. Of course the word "true" was problematic because it suggested that all other forms of “hermaphroditism" were not legitimate, only “pseudo conditions”. Also, using the term “hermaphrodite” as a word to describe a person with an intersex variation has often been criticized as insulting and inaccurate. However, by replacing true hermaphroditism with "ovotesticular DSD", we still have another problem. The DSD nomenclature now wishes to divide "ovotesticular DSD" (formerly true hermaphroditism) into “46, XY ovotesticular DSD”, “46, XX ovotesticular DSD”, or “chromosomal DSD” (of “46,XX/46,XY” chimerism or “45, X/46,XY” mosaic types). In effect, it gives an individual in the latter case two types of DSD, an “ovotesticular DSD”, and a “chromosomal DSD”. Also, we see the division based on chromosomes, which again exposes the preeminence of chromosomes as the “true” markers of an individual’s sex. Further, by combining “ovostesticular DSD” with a chimeric or mosaic karyotype, as it does, it also fails to provide a clear classification of so-called “ovotesticular DSD” which has 3 or more cell line types, isochromosomes, inversions, or ring chromosomes in the karyotype.

For individuals who have both 46,XX in some cells and 46,XY in other cells, and who are referred to as having a "chromosomal DSD" of "46,XX/46,XY(chimerism)" type, it is not uncommon for them to have male anatomy only (3) or female anatomy only (4) and they may also be fertile. In this new nomenclature they would be “diagnosed” as having a "chromosomal DSD" despite any practical relevance for them. Furthermore, although the DSD nomenclature is intended to be representative of congenital conditions, there are individuals who have become 46,XX/46,XY because their twin’s cells make up part of their own karyotype (5), or because an individual who is 46,XX received a bone marrow donation from someone who is 46,XY, as well as by many other means (6). In fact, a pregnancy may also lead to "false positives" for a DSD since fetal cells end up in a woman’s bloodstream. (5)

Likewise, individuals with a 45,X/46,XY karyotype are listed as having a “chromosomal DSD”, but with a parenthetical “mixed gonadal dysgenesis” or “ovotesticular” DSD. This is also confusing since many 45,X/46,XY individuals do NOT have mixed gonadal dysgenesis or ovotesticular tissue. Again, some have only typical male or female anatomy (some being fertile as such), and the XO cells are known to disappear during various stages of development. (7) Thus, predicting this type of “chromosomal DSD” in prenatal screening has been demonstrated to be hampered by a high rate of erroneous results, has provided unnecessary cause for alarm (by projecting birth defects which do not exist), has led to unwanted elective abortion, and is considered a serious problem in clinical genetics. (8)

Another problem is that the DSD proponents have misunderstood basic genetics (or intentionally distorted the information) and have assumed that XY chromosomes indicate that testicular tissue is expected. This assumption leads to another error in the new taxonomy because when gonadal dysgenesis is classified as a “46,XY DSD”, (see Table 2 in reference 1) DSD proponents refer to it (parenthetically) as "testicular dysgenesis". This is misleading and ambiguous because many individuals with 46,XY gonadal dysgenesis actually have OVARIAN dysgenesis. (9) It has been known for over 30 years now that in the presence of an unaltered Y chromosome, but in the absence of substances which would cause testicular differentiation and development, that ovaries start to form, not testicles. (reviewed in ref. 9). It is therefore deceptive to classify 46,XY gonadal dysgenesis as 46,XY testicular dysgenesis because testicular dysgenesis is the result on some occasions but at other times the result is ovarian dysgenesis. The type of treatment indications for dysgenetic testicular tissue may differ from that of dysgenetic ovarian tissue, and thus may unnecessarily confuse clinicians. Furthermore, the preeminence of chromosomes in this taxonomy is apparent and the idea that XY chromosomes somehow are the real “male” sex marker is the result of sexist genetics which produces more ambiguous medicine.

A basic problem with the DSD nomenclature is that it divides all the “disorders” into groups based on what are erroneously known as “sex chromosomes”. (10) This sexist interpretation of genetics, typical throughout this new nomenclature, leads to ambiguous medicine because there are individuals who have male anatomy only but have what appears to be XX chromosomes and are diagnosed as having a "46,XX DSD". Likewise, there are individuals who have female anatomy with what appears to be XY chromosomes and are diagnosed as having a "46,XY DSD". If these apparent XY individuals have a piece of the Y chromosome missing, (such as would include the SRY testis determining gene) they are still referred to as having a “46,XY DSD”, which is factually impossible since they are not XY, but X plus only part of the Y. Likewise, someone who is called XY (but in reality has an extra copy of an X chromosomal gene called DAX1) is also put in the category of having a "46,XY DSD", even though this is impossible, since they are not XY, but are instead X (PLUS another piece of an X)+Y. Likewise, individuals who appear to be XX, but are actually XX (PLUS the Y chromosome-specific SRY gene) are listed as having a "46,XX DSD" and a disorder of gonadal (ovarian) development, both of which are technically inaccurate. The fact that the DSD proponents (1) have put a note next to some conditions which indicates whether a deletion or addition of some X or Y chromosomal material exists, further demonstrates the inconsistency of their listing these conditions in the binary categories of “46,XY DSD” or “46, XX DSD” and not that of “chromosomal DSD.” In these regards, the DSD terminology is in violation of the principles and accepted diagnostic nomenclature used by clinical and molecular cytogeneticists. (11) Why didn't the DSD proponents put these in the "chromosomal DSD category"? One apparently needs an entire extra "sex chromosome" or to be lacking one, in order NOT to be put in the binary "EITHER XX or XY" category.

The DSD nomenclature is ambiguous and sexist in its understanding of genetics and it appears that this is necessary in order to preserve an "artificial binary". People who have portions of the X or Y chromosome missing or added are neither XX nor XY. The DSD system again here is flawed. Technically, CAIS individuals do not have a so-called "46,XY DSD" (even though the proponents state that they do) because the androgen receptor gene on the X chromosome is altered so that, in fact, they are only "X"Y. The androgen receptor is certainly involved in sex development. Thus if it is not there or is altered, it is ambiguous and misleading to call these individuals XY. It is equally ambiguous and misleading to call CAIS individuals “genetic males”. Yes, they have the SRY gene and a typical Y chromosome, but the X linked gene sequences for androgen "action" are not something that they "have". The same is true for an XY individual who has a female anatomy only, unaltered X and Y chromosomes, but an alteration on one of the many genes on one of the so-called "non sex chromosomes" (autosomes) which are certainly sex determining.

Sophia Siedlberg, Genetics Advisor to the Organisation Intersex International, came up with a polygenic model which explained the role of genes, not chromosomes, in sex determination. (12) This model has been misappropriated by others who don't know how to interpret it correctly. We can be quite sure, that barring an environmental cause (such as a teratogen), if we have an XY individual who does not appear to be a male, but instead appears female or intersex, that this person CANNOT be a “genetic male”, “chromosomally a male”, “genetically a male” and vice versa for individuals who have XX chromosomes. How do we know this? By the simple rule of basic genetics, that

GENES (+ environment) = PHENOTYPE (observable trait)

Thus, the DSD model based on "sex chromosomal" divisions has failed. By using the umbrella term “development”, it has also misapplied the knowledge base from the field of (sex) “differentiation” and conflated it with that of “development”. (13) It is ambiguous and sexist (in that it prescribes what sex one should be and not what sex one is and it perpetuates gender and sexist stereotypes based on chromosomes). It promotes confusion and oppression. It is NOT scientific. It simply uses scientific terminology in such a way that is confuses those who have little knowledge of genetics and biology. In so doing, it victimizes intersex people while offering “unlimited immunity" to medical and psychological professionals who continue FORCED sex assignments, FORCED sex reassignments, and FORCED gender expression expectations.

DSD makes the central health issue one’s sex

A second big problem with the DSD Consensus is that it largely ignores the health issues of intersexed individuals. With its emphasis on “sex” divisions based on chromosomes, they have persons with non-intersexed conditions like labial adhesions, cloacal exstrophy of the bladder and absent penis in an otherwise typical male, (or absence of a vagina in an otherwise typical female), mixed in with endocrine conditions, such as congenital adrenal hyperplasia, or mixed in with other organ system conditions, such as Smith-Lemli-Opitz Syndrome, and Turner's syndrome. These are then categorized as "sex development disorders", thus taking this "distant commonality" of one symptom, i.e., sex, and placing all of these disparate conditions as a disorder of one’s sex, while the predominant health issues become categorically "secondary" and likely to be ignored by clinicians.

DSD lacks clinical relevance

Even without considering the fact that the DSD Consensus largely ignores health issues, its taxonomy is in many cases irrelevant for the purposes of clinicians, especially those with subspecialties. An XX male with testes, a penis, and no female reproductive organs, who finds out at the age of 30 that his chromosomes are atypical after an infertility check, is in the same category as an otherwise typical female with ovaries and a uterus who has vaginal atresia. Both have a “46,XX DSD”. The same holds true for a male, typical in every way but with isolated hypospadias (classified as having a “46,XY DSD”), whose clinician finds that they have given their prior patient, an XY female with streak ovaries, uterus, and vagina who has given birth after embryo donation the same diagnostic classification of “46,XY DSD”. Again, ambiguous diagnoses lead to ambiguous treatment implications and vice versa. This is ambiguous medicine.

Gender conformity based on sexist genetics

With disorders of sex development, which sounds like “sexual development” (and can be confused with psychosexual development or psychosexual disorders), we now see a pathologizing of gender, gender identity, gender role, sexual orientation, and its ties to (re)assignment. People with a so-called DSD, especially in the binary XX or XY categories, are expected to conform in the above categories according to a binary gender expression, as indicated by the expectations of the DSD category, as well as the whim of the person who enforces the assignment or re-assignment. Those who reject such enforcement can be labeled mentally disordered, and treatment can be instituted or re-instituted at the whim of professionals, and this can be enforced legally.

DSD is about ambiguous medicine, sexist genetics, body control, and mind control. It certainly is not a client centered consensus statement. The fact that almost no intersex people had input into this consensus is glaringly evident.

In effect, we have moved from the “age of gonads” to the “age of chromosomes” even though it has been established that "sex chromosomes" as portrayed do not determine one’s sex. (10) This is based on prescriptive notions about genetics, not a descriptive understanding of the role of chromosomes in sex determination. Genes, not "sex chromosomes", determine sex, and most of the genes involved are not on the X and Y chromosomes. They are on the autosomes.

It appears to the authors of this article that the DSD nomenclature misinterprets genetics based on a sexist, binary male/female model and in so doing, it has erroneously pathologized and stigmatized intersex people in order to try to preserve the heterosexist male/female hierarchies that justify the oppression of many classes of people, not just those who are intersexed.

REFERENCES

1) Hughes, I.A. et al. Consensus statement on management of intersex disorders. J. Ped. Urol., 2006, 3:148-162.

2) DamianiI, D. & Guerra-Júnior, G. As novas definições e classificações dos estados intersexuais: o que o Consenso de Chicago contribui para o estado da arte? Arq Bras Endocrinol Metabol. 2007, 51: 013-7.

3) Gencik, A. et al. Chimerism 46,XX/46,XY in a phenotypic female. Hum. Genet., 1980, 55: 407-408.

4) Sudik, R. et al. Chimerism in a fertile woman with a 46,XY karyotype and female phenotype: Case Report. Hum. Rep., 2001, 16: 56-58.

5) Schoenle, E. et al. 46,XX/46,XY Chimerism in a Phenotypically Normal Man. Hum. Genet., 1983, 64: 86-89.

6) Ford, C.E. Mosaics and Chimaeras. British Med. Bull, 1969, 25:104-109.

7) Chang, H.J. et al. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Amer. J. Hum. Genet., 1990, 46: 156-167.

8) Robinson, A. et al. Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am J. Med. Genet., 1992, 44: 365-368.

9) Wachtel S.S. & Simpson J.L. Sex Reversal in the Human. In Wachtel S.S. (Ed.) Molecular Genetics of Sex Determination., 1994, 287-309. Academic Press, Inc.

10) Italiano, M The Scientific Abuse of Genetics and Sex Classifications. Manuscript published July 17, 2008 © Organisation Intersex International.

11) Schaffer, L.G. & Tommerup, N. ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature., 2005. Karger, S.C. Publ.

12) Siedlberg, S. The Gender Genital Gene Genie. Manuscript published 2001.

13) Italiano, M. Some problems with the new terminology for intersex. Manuscript published July 13, 2008 © Organisation Intersex International.

Mutilations or non-consensual normalization treatments?

By Curtis E. Hinkle, Founder of OII

Available on OII's website: Click here

We have been asked why OII's Official Position on Health Care does not mention mutilations. There are many reasons for this. Most intersex activism has been focused on just denouncing surgery (basically feminizing surgery), while insisting on a gender assignment as soon as possible. However, this does not seem to have helped intersex infants and adults. As a matter of fact, we are now faced with a more pathological definition of intersex as a genetic defect (the real goal of the new DSD terminology is to classify all intersex variations by their genetic etiology) and non-consensual treatments are more justifiable now with the new terminology of “disorders of sex development” than when intersex activism began in the United States.

Instead of insisting on a gender identity assignment as quickly as possible, OII is convinced that it would be better to inform the parents of their child's physical difference in such a way that they will be able to make informed decisions about the real health needs of their child (and not all this focus on which gender identity is best for the child which is what we are doing now). Understanding the intersex variation and the anatomical, endocrinological and other physical differences are very important and this can be very difficult for parents who are usually not specialists in genetics or anatomy. They need help to manage the health care decisions concerning their child and understanding their child's body is what is important – not spending weeks deciding what gender identity is most appropriate. This wastes precious time and it makes the parents feel their child is so different that they can be overwhelmed, shocked and confused.

Once the parents are able to understand the intersexed body of their child and the particular intersex variation, that is the physical state of their child, it is important to stress to the parents that from a psychological and socio-cultural perspective, their child is like any other child. And this is why it is important that doctors be given the freedom to make TEMPORARY gender assignments because we do not understand the process of gender identity development and trans adults prove that we cannot predict a gender identity. The parents need support and help in understanding that a child that is classified as intersexed is not that different from other children – that intersexuality is a physical characteristic and that all children whether they are categorized as intersex or not face the same dilemma because the sex development process is so complex and there are so many factors involved that sex can never be understood clearly as a false dichotomy of just male or female. There are numerous ways that the sex of any individual could be different from just one of these categories and there will never be clear divisions between the two categories. Doctors would be more honest in stating that they are not assigning a SEX by explaining that what they are really doing is assigning a GENDER identity and the reason for this is to help the child integrate into the current socio-cultural system which is for the moment bi-gendered. This is why it is crucial that the child be allowed to be involved in the process because the point is to help the child best fit into the system and OII hopes that the system will eventually evolve to accept more gender variations and diversity.

At present, because of the way intersex children are treated, the parents are led to think that their children are very DIFFERENT from other children and that is not true. There is a physical difference and it is important to understand that in order to take care of the child's health, but taking care of the child's health should also include taking care of the child's emotional well-being and in order to do that the parents should understand that psychologically and socially their child is in the same situation as all other children and that is :

1) there are only two genders currently accepted

2) there is no way to predict the gender identity of any child, intersexed or not

If one starts constantly using the word “mutilation” in such a context, this could limit the choices of the child and the parents. There are many reasons OII prefers not to use that word in the official position while leaving it to individuals affected to use that term when it applies to their own experience. Instead, we prefer the term "non-consensual normalization treatments".

1) There are operations that are necessary for the health of the child, for example when there are serious urinary problems. There are other reasons also and the parents should not be concerned so much about mutilations as normalization treatments which are not necessary for the health of the child. At each step, the parent should be free to ask if the treatment is for normalization only or for real physical health concerns.

2) OII was contacted by a few people who were born with cloacal exstrophy and some had photos and they felt it was irresponsible to condemn surgeries in their case.

3) The problem is not always the surgery itself; it is the timing of the surgeries in many cases which makes them problematic. If you make generalizations and just denounce all surgery (and for the most part the US intersex movement has basically spent most of its time denouncing only feminizing surgeries which OII has found to be no more troubling than masculinizing surgeries), this can undermine a panoply of technologies that are already available which the child could eventually have access to in order to help them affirm their own identities. There is a place for normalization treatments if desired and those should be timed so that the child and parents can help make the decisions.

4) This is why psychological care can be important in helping the child express their “true face” to the world and in helping the parents deal with the unknown which can be a severely traumatic shock for them.

5) OII works with people on all continents and we have noticed that it is principally people who live in more affluent regions who denounce “mutilations” (principally feminization surgeries). Almost all intersexed people who contact OII from less affluent regions have contacted us because they do NOT have access to treatments, surgeries and counseling.

OII also prefers the term non-consensual normalization treatments because:

1) This term includes hormone therapy and if one listens closely to those who have been subjected to hormone therapy without informed consent, it is obvious that this is just as mutilating to many of them as surgeries are to some other people.

2) It is very difficult to get the general public to understand that virilizing surgeries can be even more mutilating because genital mutilation has become a term too closely associated with feminist discourse and the surgeries involved in virilizing an infant are often dismissed by such discourse because of the assumption that anyone would prefer to be a male and therefore this could never be a "mutilation". OII denounces that as sexist and very damaging to understanding the serious problem of infant virilization without consent.

3) OII respects our trans allies and to many of them these treatments are NOT mutilation (and they are also not perceived as mutilations by many intersex people either if they are given the right to an informed choice.)

If OII makes the same mistakes as those that have been made in the past and stresses our DIFFERENCES from others in an attempt to make clear boundaries among different identity categories (for example to find clear boundaries between trans and intersex, between homosexuality and intersex, etc), this will not bring progress. This reduces us to a rubbish heap of chromosomal, hormonal and genetic definitions (such as DSD or Disorders of Sex Development) which do not help us understand the “true face” of a child. On the contrary, such definitions give the impression that these markers define the child and determine their future and we know that they are not reliable predictors of the child's future.

OII is not in favor of an identity movement for people who are born with this physical difference that is another social construct called intersex. OII is an association that is in favor of human rights for those who are born with bodies that are not defined as standard for male or female and instead of emphasizing what we do not have in common with others, we wish to emphasize what we do share – our humanity and it is for this reason that we need as many allies as possible who are willing to think beyond identity politics.

OII is an organization which campaigns in favor of human rights for people born with intersex variations regardless of their identity or sexual orientation. We are not using the word “intersex” as an identity but merely as a descriptor for bodies which are not standard for male or female under current norms. The history of intersex has been one of assimilation and erasure. It is important that we speak clearly about intersex variations while taking into consideration as many different perspectives as possible from those actually affected in order to build bridges with humanity in general and avoid becoming one more invisible identity category within another minority identity movement.

People who are born with physical differences currently classified as having intersex variations are part of the WHOLE human family. OII does not wish to underline our differences from other groups, whether they be heterosexual, homosexual, trans or whatever identity because we belong to all these groups. What we wish is to build bridges between people and groups from all over the world in the hope of ending human rights violations against people with intersex variations and others who also suffer as a result of these sexist norms which affect humanity as a whole.

PRESS RELEASE: Congratulations to Christiane Völling

PRESS RELEASE - Feb. 6, 2008

Organisation Intersex International

http://www.intersexualite.org/

Congratulations to Christiane Völling

The Organisation Intersex International congratulates Christiane Völling the German intersex woman who sued a surgeon for damages. Today the Cologne Regional Court ruled that her ovaries and uterus were removed over 30 years ago without her informed consent.

This verdict further justifies OII's position that present-day medical treatment of intersex infants and children needs to be reexamined and changes are needed so that not only the physical integrity of the child is not violated but also in such a manner as to respect the child's inalienable right to be accepted as the sex they feel most appropriate.

Current medical treatment recommends early surgical and hormonal intervention, which is often irreversible, in order to assign a sex without consultation with the individual concerned.

Society, the law and medicine need to respect the human rights of all intersex children and in order to do this changes must be made which reflect the biological facts that all people are not born male or female and that some people will not accept their early sex assignment and that others will not accept either a male or female assignment which they also feel is a violation of their human rights.

Christiane Völling's case did highlight a problem regarding legal sex definitions in which the judgment in her favor was based on her being defined as "essentially female" using genetic and anatomical markers. It appears that had she been treated the same way by the surgeon but had Swyers Syndrome for example (46 XY) and had her uterus been removed in the same manner then the Judge in the case may not have ruled in her favor. If the arbitrary use of biological markers remains, these medical violations of intersex people will sadly continue without challenge. It is our view that this should not be a debate about legal or medical markers of sex and fitting people into those categories, but about the integrity of the whole individual, and the rights of that individual to have their integrity both physically and mentally protected from societal, legal and medical violation.

We appreciate Christiane's courage and willingness to defend herself with such dignity and we wish her a long and happy life. We hope that this case will help heal the damage done to many intersex people worldwide and that society at large will make a place for us and treat us with the human dignity most other members of society enjoy.

Curtis E. Hinkle

Founder, Organisation Intersex International

E-mail: curtis.hinkle@gmail.com

For more information about Christiane Völling's lawsuit:
http://www.intersexualite.org/Christiane.html