Home » Systems of Knowledge » Genetics and the Gender Binary

Genetics and the Gender Binary

Our conceptions of the nature of gender difference shape, even as they reflect, the ways we structure our social system and polity; they also shape and reflect our understanding of our physical bodies. (Fausto-Sterling, Sexing the Body, page 45)

What do you think of when you hear the words “normal” and “abnormal”? How about “natural” and “mutation”? These are all buzz words around the subjects of genetics and queer studies.

The word mutation usually has a negative connotation, meaning an abnormal change or that something unnatural has happened. Yet in genetics, we understand that mutations occur on their own and frequently, or in other words, naturally. Genetic mutations can be minimal–for example, a  single nucleotide change to a strand of DNA that doesn’t affect the way the DNA is read. They can also be larger, as we will see below. But first, I would like to get us thinking of the word “mutation” as connected to “variance.” Mutations, in part, are the reason that the human genome is so genetically diverse. Mutations and differences produced biologically in individuals allow for variance of the human species. However, there are socially constructed views that people with genetic differences are somehow “unnatural” and “wrong.”

The goal of this page is to break down and make more accessible some of the concepts I have learned in my Human Genetics course and to see them through a Queer Anthropology lens.

First, we will need to go over some genetics background (if you’re already familiar, skip below):

Every person in this world has DNA and cells. DNA and cells make up the foundations of your body and allow you to live. Cells contain chromosomes and chromosomes are made up of DNA. Humans have 46 chromosomes (though a person can be missing a chromosome, a part of a chromosome, or can have extra). You might have heard people say that DNA is the building block of life; that is because DNA is the reason for everything that makes you, you. All of your genetic information is stored in the DNA and is encoded, which explains the genetic traits and physical appearance for each individual.

Chromosomes are stored in the nucleus, or the “brain,” of the cell. There are two main kinds of cells: somatic cells and germline cells. Somatic (or body) cells are skin cells, the cells that make up your organs, basically anything that isn’t a germline cell. Germline cells are cells that comprise eggs in females or sperm in males. When somatic cells divide to create more cells, a complete copy of your DNA is replicated and placed into the new cell. When germline cells are created, only half of the genetic information (so 23 chromosomes instead of 46) is placed in the cell. This is because of fertilization; when a sperm and an egg combine, the 23 chromosomes from the sperm is added to the 23 chromosomes of the egg, which is how you have half of your genetic information from your mother and half from your father. Somatic cells that are replicated are exact copies; germline cells that are created are all individual and unique.

Of the 46 chromosomes in humans, two are sex chromosomes (X and Y). XX is for female, XY is for male. When a father and mother have a female child, the father passes down the only X he has to the daughter and the mother passes down either of her X chromosomes. If the child is male, that means that father passes down his only Y.

Biological sex: what your chromosomes say about your sex and how your physicality develops.

Gender: individual decision chosen later in life. Based on personal identity and can be separate or different from biological sex.

Some genetic variations

Let’s look closely at Person A (a male, XY). This person has 46 chromosomes that just replicated themselves (meiosis I) and are about to divide again, creating four cells with 23 chromosomes each (meiosis II). Meiosis is the process that creates sex cells, or germs cells, like eggs for females and sperm for males.


During meiosis I, “crossing over” occurs. Crossing over is when the paired chromosomes share information with each others during the prophase I stage of meiosis. (For example, the two copies of Chromosome 6 you have, one from mom and one from dad, can cross/swap genes.) From my textbook: Crossing over is “a process in which chromosomes physically exchange parts” (35). 

Crossing over

Crossing over

Crossing over helps increase genetic diversity in humans by creating germline cells with distinct genetic information. The cell then goes through the rest of cell division and pulls apart during anaphase and telophase.

The cell then pulls apart during anaphase and telophase.


Remember, everyone has 46 chromosomes that are paired and two of those are sex chromosomes. Below is an image of the 46 chromosomes on a karyotype.

This is a karyotype of Person A's chromosomes

This is a karyotype of Person A’s chromosomes

During crossing over, the XX chromosomes or the XY chromosomes are paired. For a male, the X and Y will be together because the X and Y share homology. Sometimes, what happens is during crossing over is the tip of the Y chromosome will switch with the tip of the X chromosome (or vise versa). It is usually the SRY gene that crosses over, which has the male determining factor on it. If this happens, then this cell will divide into two haploid cells (which means each cell has 23 chromosomes). One will carry the X chromosome with the SRY gene (from crossing over) and one will carry the Y chromosome without the SRY. If either of these sex cells are fertilized and become children, the possible results are a female child showing male physical traits or a male child showing female physical traits.

Other sex variations on the chromosomal level

Turner’s Syndrome: single X chromosome, so they only have 45 chromosomes total. Everyone affected is female.

  • they face sexual development issues, are sterile (they have functional eggs but cannot conceive because of the development of sexual organs), have hearing and dental issues

Though a person can survive with only one X chromosome, they cannot survive if they are completely missing the X chromosome and only have a Y (because it does not have enough genetic material on it).

The Y (left) and X (right) chromosomes.

The Y (left) and X (right) chromosomes. See how small Y is in comparison to X?

Klinefelter’s Syndrome: additional X chromosome, so 47 chromosomes (XXY).

  • because there is the presence of the Y chromosome, they are chromosomally male
  • some effects are low fertility and possible mental disfunction
  • variations of this are: XXYY, XXXY, and XXXXY. The more X chromosomes, the more severe the effects.
  • Klinefleter’s is extremely common.

XYY Syndrome: Additional Y chromosome, so 47 chromosomes in total.

  • only male because of presence of Y chromosome
  • effects are above average height and possible personality disorders
  • very common as well
  • fun fact: when scientists were first studying XYY Syndrome, they were studying men in jails and in asylums. Scientists realized that high amounts of criminals or those with mental impairments had an extra X chromosome, so they correlated delinquency and insanity with this disease and decided all XYY people should be locked up. However, the scientists didn’t have a control group that sampled how many people outside of prisons or asylums have XYY. Turns out the scientists were completely wrong.

Development and sex determination (background)

Zygote: a fertilized egg, containing 46 chromosomes

Gametes: mature, unfertilized germ cells, containing 23 chromosomes

Gonads: organs where gametes and sex hormones are produced (examples: ovaries and testes).

Trimesters of development:

  • First trimester: organ formation—from one cell, the brain, heart, lungs, etc. are created.
  • Second trimester: organ maturation. When babies are born too soon, sometimes they cannot survive because their organs have not fully developed yet.
  • Third trimester: growth period. Children take every nutrient they can.

Chromosomal sex of a baby is determined at fertilization when two unfertilized germ cells, or gametes, combine (one from mom one from dad) to form a zygote.

Gonadal sex, when the organs are developing, occurs between 7 and 12 weeks of the female’s first trimester. When gonadal sex is determined, developmental pathways activate different genes that either develop testes or ovaries. All fetuses start out with neutral gonads that could either develop as male or female.

Gonadal development

Gonadal development

During 7-12 weeks in the womb, if the child is male, two hormones will be secreted. One is testosterone, which pushes forward the development of testes. The other is a hormone called Müllerian inhibiting hormone (MIH) that inhibits the development of female organs. If the fetus is supposed to develop as a female, then the neutral gonad develops into the ovary. Without the presence of testosterone (which is converted to dihydrotestosterone, or DHT) or the MIH, the fetus will sexually develop as female.

The way someone physically appears, or their phenotype, depends on many things. Phenotypic sex depends on:

  • the interactions the embryo has with its own environment
  •  with other embryos in the womb (twins)
  • and whatever the mother is exposed to

More variations

Androgen Insensitivity (CAIS)

  • there is a mutation in the X-linked androgen receptor gene (AR). Usually testosterone binds to an androgen receptor. With this mutation, testosterone doesn’t bind. The result is someone who chromosomally is male (XY) but phenotypically (physically) is female.
  • testosterone produced
  • no testosterone receptors
  • develop as female

Gonadal Intersexuality

  • used to be called Pseudohermaphroditism, which is both inaccurate and offensive
  • it is an autosomal mutation, so it can be seen in many different genes throughout the body
  • DHT (dihydrotestosterone) and testosterone precursors are not efficiently formed
  • the formation of the testes is started, but because the DHT and testosterone precursors are not functioning normally, the person presents a female phenotype
  • however, at puberty, the adrenal gland begins to secrete testosterone, resulting in the person changing their phenotype (what can be physically seen) from female to male

For really helpful and more complete information

From Fausto-Sterling's book Sexing the Body, p.52

From Fausto-Sterling’s book Sexing the Body, p.52

From Fausto-Sterling's book Sexing the Body, p. 53

From Fausto-Sterling’s book Sexing the Body, p. 53

So what does this all mean?

17th Century British physician William Harvey said, “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows tracings of her workings apart from the beaten paths.”

In other words, the diversity that occurs within humans is natural. Although it may not happen frequently, these people who do not walk “the beaten paths” and are therefore different, show the beauty and variation within the human species.

Not only does variation show beauty, it’s also necessary. Variation makes us, as a species, less susceptible to diseases. It also allows us to adapt and evolve faster.

Yet we’re raised to believe (or at least I was) that there are two categories for humans, and only two–male and female. But everything you’ve just read from above shows all the ways in which someone could turn out not just male or female. Does that mean they’re genetically “wrong”? Absolutely not. It means the ways that society has constructed a gender binary is not all-inclusive and actually excludes individuals. By excluding them, these people are told that they are “abnormal,” which implies a negative difference.

How this affects us

So intersex births or births where the child is of variant sex are not extremely common, but they do happen (more frequently even than albinism, a genetic mutation which many people are familiar with); an approximated number given by scholar Anne Fausto-Sterling is 1.7% of births (page 51). Due to mid-20th Century medical advancements,  the 1.7% of children are frequently operated on or undergo treatment to make the child either completely male or female. That means out of 1,000 children born, 17 will be affected. That’s not a small number! If a child is born intersex or ambiguously-sexed in a place that practices Western medicine, doctors “declare a state of medical emergency” and “before twenty-four hours pass, the child must leave the hospital ‘as a sex,’ and the parents must feel certain of the decision” (Fausto-Sterling 45, Karkazis 7). There is no current agreement among medical professionals on one technique that has the “lowest complication rates and necessitates the fewest operations” (Fausto-Sterling 62). Currently in medicine, there are “no national or international standards [that] govern the types of intervention that may be used” (48).

When doctors are determining the sex that the child is “supposed” to be–choosing between male and female–they use the “size rule”; smaller genitalia is identified as female, larger as male, and in the middle as in need of operation.

When talking to parents of ambiguously-sexed children, “physicians are to allege that the intersex child” is actually male or female and that only “embryonic development has been incomplete” (64).

In [doctor’s] suggestions for withholding information about patients’ bodies and their own decisions in shaping them, medical practitioners unintentionally reveal their own anxieties that a full disclosure of the facts about intersex bodies would threaten individuals’–and by extension society’s–adherence to a strict male-female model. (Fausto-Sterling 65)

After the doctors talk to the parents, it is up to them to agree to the surgery for their children, which is a lot of pressure. There is a high number of parents who chose the sex of their child and whose children later grew up and informed them that they chose incorrectly. The necessity to be one sex or the other leaves many feeling unhappy because they are unable to be the way they were born, and if there are, they most likely grew up under the speculation of doctors. But sometimes parents make the decision to operate because they feel that to have an ambiguously-sexed child will make the child too different, leading to psychological trauma.

In my opinion, the policing of “indeterminate” bodies is harmful. The gender binary insists that people are “either naturally male or female,” yet we know that isn’t true all the time (Fausto-Sterling 54). By flagging these human variations as something to be fixed, we are telling society that it is wrong.

The “body becomes a primary way to locate and mark difference [between people] because of its materiality” (Karkazis 10). In addition, the actual “fixing,” or surgery immediately after birth, puts strain on parents to make a huge life decision for their child without actually knowing what the child will later want–doctors “have failed to ask what intersex individuals themselves want” (Karkazis 2).

The following are two personal statements from people who were born intersex, taken from Katrina Karkazis’ book, Fixing Sex, Chapter 7, pages 222-223:

“I had genital inspections every single time I went to the doctor. And not only that, I was used for training. […] Finally I rebelled. I just refused to go to the hospital.”

“They would lay me on this table, and the first thing out of my doctor’s mouth is, ‘Pull down your pants.’ And I never understood why. And then all these other people would walk in, and I’d lie there, completely exposed, while these strangers are probing and looking at me and writing notes.”

So why do we have this gender binary? In part, it has to do with systematic efforts over the past couple hundred years to define and regulate the individual. As well, to acknowledge the presence of intersexuality would perhaps rock the foundation of the male-female heterosexual relationship that is held so dear to modern society. “If intersexuality blurred the distinction between male and female, then it” follows that it will blur the “line of dividing hetero[sexual] from homosexual” (Fausto-Sterling 72). What do you think?

A few advancements

Recently, Germany changed their law to give parents the option to mark “X” on birth certificates. This allows parents to leave the hospital without legally or surgically choosing between male and female.

Hijra, present in parts of South Asia, have been recognized as a third gender in India (where they can mark “E” on their passports for Eunuch, which is what hijras are often called) and Bangladesh.

I just learned that in California, while you still have to choose either male or female at birth, later in life the process to legally change your name and your legal sex is getting easier and less expensive– you can receive partial refunds for the fees.

Here are some links that might be helpful

For a brief history of the nuclear family structure (which relates to the gender binary): Queer Time and Space

For gender-neutral families: Gender-Neutral Parenting

For in-depth research on genetics: the Online Mendelian Inheritance in Man website

Support: Intersex Society of North America

Some more resources

A lot of this information is from lecture notes that I took during my Genetics: Human Aspects course.

The textbook I used is Human Heredity: Principles and Issues (9th edition) by Michael R. Cummings.

The articles I cited:

Sexing the Body: Gender Politics and the Construction of Sexuality (chapter 3) by Anne Fausto-Sterling

Fixing Sex: Intersex, Medical Authority, and Lived Experience (intro and chapter 7) by Katrina Karkazis


XXY (a movie). It’s really well made and relates to this topic. (Warning: there’s some material that is not suitable for children and the film also portrays moments of violence.)

Read Intersex (For Lack of a Better Word) by Thea Hillman for a memoir by someone who is actually intersex.

There is a tumblr site called Ask a Non-Binary that is more personal interpretation but could still be helpful.

Also, check this site out. They aim to break down the gender binary frequently used in advertising.

This page was contributed by Mackenzie Fargo, a U.S. West Coast college student.

Comments or want to contact me?

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