Intersex: Its Meaning and Definition

Current research estimates that intersex people compose 1.7% of the population, which makes being intersex as common as having red hair.

While many people don’t know what it means to be intersex, most people have heard the term before.

What does it mean to be intersex? Can you be intersex without knowing it? How do you find out if you are intersex?

Let’s dive into these questions below.

What Is Intersex?

At a basic level, the word intersex is used to describe someone who is born with variations in sex characteristics – such as chromosomes, genitals, gonads, or sex hormones – that do not fit the typical definitions for “male” or “female” bodies.

Intersex people break the male/female binary, proving that sex exists as a spectrum of biological traits that present along a continuum.

Causes of Being Intersex

There are several possible causes of being intersex, as described below.

1. Reproductive Anatomy

Among intersex people, there can a diverse range of variations in reproductive anatomy. Often, this is caused by one of the factors described below, but sometimes, it in and of itself is used as an indicator of being intersex.

While the majority of people are born with either “female” reproductive parts (including a vagina, uterus, and ovaries) or “male” reproductive parts (including a penis and testicles), those who are intersex may have different combinations of genitalia.

In some cases, intersex babies are born with a phallus that could be either a small penis or a large clitoris. Because reproductive anatomy involves both internal and external components, these intersexed variations may or may not go undiagnosed.

Examples of how intersex reproductive anatomy include, but are not limited to:

1. Ambiguous genitalia
2. A small phallus or “micropenis”
3. An enlarged clitoris or “clitoromegaly”
4. Labial fusion (partial or complete)

2. Hormones

A common cause of being intersex is hormonal variation, for example Congenital Adrenal Hyperplasia (CAH). This condition is caused by an over-production of androgens by the fetus or the mother’s adrenal glands.

Androgens are male sex hormones, such as testosterone, that regulates the appearance and maintenance of male characteristics.

When androgens are produced in high levels during pregnancy, a female newborn may be born with an enlarged clitoris/phallus, making the genitals sexually ambiguous. In some cases, these newborns may appears to have a phallus (small penis), as well as a scrotum due to the labia fusing together.

With this condition, people often, although not always, maintain reproductive capacity.

Another example is progestin induced virilization, a condition that is caused by exposure to exogenous androgens, most commonly progestin, during pregnancy.

Numerous other hormonal variations may also exist among intersex people.

3. Enzymes

Several types of intersex conditions are caused by enzyme deficiencies. The two most common examples are 5-alpha deficiency and 17-beta dehydrogenase deficiency.

Both of these enzyme deficiencies give rise to male infants that frequently get labelled as female infants, as they are typically not born with penises.

With these conditions, the deficient enzymes do start to be produced when the individual nears puberty. This creates masculinization during one’s teenage years.

Although commonly labeled as “female” at birth, many people with these conditions elect to live their lives as men once they reach maturity.

4. Androgen Receptor Variability

Another cause of being intersex is variations in androgen receptor capacity. In biology, receptors are structures found in cell membranes that bind to specialized molecules to initiate signaling or a chemical response.

An example of this type of intersex condition is Androgen Insensitivity Syndrome (AIS), which can be either partial or complete.

Because androgens are male sex hormones that regulate the appearance of masculine characteristics, people with AIS may produce androgens but not create male sexual differentiation due to their body’s inability to respond to them.

Thus, these individuals tend to be labelled female at birth, even though they have testes that produce testosterone. When puberty occurs during the teenage years, these androgens gets converted into feminizing estrogens, which can cause breasts to develop. People with partial androgen insensitivity may also develop a small phallus when they hit puberty.

With this condition, many different physical appearances can occur, depending on the total androgen volume this is produced and whether the individual has either a partial or complete insensitivity to them.

5. Genetic Variation

Some people are born intersex because of genetic variation, specifically chromosomal makeup. Sex chromosomal variations may exist as a result of the loss, damage, or addition of one or both of the sex chromosomes.

While cis women tend to have XX chromosomes and cis men tend to have XY, intersex people may have different combinations of chromosomes. (A cisgender person is someone who identifies with the same gender that they were assigned at birth.)

Common intersex chromosomal makeups include: 

• XXY, sometimes called Klinefelter syndrome.
• XXXY, XXXXY and XYY, known as Klinefelter variants.
• XO, where the O indicates a sex chromosome (originally either an X or Y) is missing. This is sometimes called Turner syndrome.

However an even wider range of sex chromosome variations are naturally occurring, including:

• 45, X, known as Turner syndrome
• 45,X/46, known as XY mosaicism
• 46, XX/XY
• 47, XXX, known as Trisomy X
• 47, XXY, known as Klinefelter syndrome
• 47, XYY with normal phenotype, known as a Klinefelter variant
• 48, XXXX
• 48, XXXY, known as a Klinefelter variant
• 48, XXYY
• 49, XXXXY, known as a Klinefelter variant
• 49, XXXXX
• XX Male Syndrome
• XX Gonadal Dysgenesis
• XY Gonadal Dysgenesis

As described above, some intersex people present with “XX Gonadal Dysgenesis” or “XY Gonadal Dysgenesis”. In this case, gonadal dysgenesis refers to reproductive tissue (gonads) being replaced by non-reproductive fibrous tissue during prenatal development.

While chromosomes are a characteristic that some people try to use to explain the male/female binary, chromosomes are actually varied across the human species.

List of Intersex Conditions

Now that we’ve explored causes of being intersex, let’s explore common intersex conditions.

Below is a list of intersex conditions, presented in alphabetical order:

• 5-alpha reductase deficiency –  Inability to convert testosterone to dihydrotestosterone (DHT) to create male sexual differentiation in utero.
• Androgen Insensitivity Syndrome (AIS) – A partial or complete insensitivity to androgens, such as testosterone.
• Aphallia – Born without a penis.
• Clitoromegaly – Born with a large clitoris.
• Congenital Adrenal Hyperplasia (CAH) – The adrenal gland over-produces androgens, which can create ambiguous genitalia in female newborns.
• Gonadal Dysgenesis (Partial or Complete) – Reproductive tissue (gonads) is replaced by non-reproductive fibrous tissue during prenatal development.
• Gypospadias – The urethral meatus (“pee-hole”) forms along the underside of the penis, instead of at the tip.
• Klinefelter Syndrome – An extra X chromosome is inherited, creating a XXY karyotype .
• Micropenis – A small or undersized penis.
• Mosaicism involving “sex” chromosomes – Variation in sex chromosome combinations
• MRKH – A congenital disorder of the female reproductive system, with ovaries present but a missing or undersized uterus.
• Ovo-testes – Both ovarian and testicular tissue are present.
• Progestin Induced Virilization – This condition is caused by exposure to exogenous androgens, most commonly progestin, during pregnancy.
• Turner Syndrome – Only one X chromosome present and functional.
• XX Gonadal Dysgenesis – No functional ovaries are present to induce puberty in a female with a normal XX karyotype.
• XY Gonadal Dysgenesis – Also called Swyer Syndrome, these people are born without functional gonads.

Of course, there are many other biological combinations that can also be naturally occurring among intersex people. This list is not meant to be comprehensive, but to highlight experiences that may be relevant.

How Do You Know if You’re Intersex?

While some people have external factors letting them know that they are intersex, others do not. One way to explore your biology is to get a DNA test to look into your chromosomal makeup. If you suspect that you may be intersex, talk to an LGBT-friendly doctor about potentially getting a test done.

Of course, many types of intersex conditions will not appear on a DNA test, so this is not a comprehensive screening method.

You could also consider testing your hormone levels, although this type of blood work won’t reveal what conditions were present during your prenatal development, so it has limited utility as well. Or, you could do medical testing to determine if you have an enzyme deficiency.

Because there are many causes for being intersex, evaluating your physical characteristics, such as internal and external genitalia, body structure and development patterns, and secondary sexual characteristics may provide useful information.

Finally, it could be helpful to talk to your parents about your birth and early development. In some cases, they may know information that you do not.

No matter what your gender identity is, you can be intersex. Intersex people can be cisgender or transgender depending on the gender they were assigned at birth. Cisgender intersex people would identify with the gender that the doctors put on their birth certificate, while transgender intersex people would identify with a different one.

Of course, you don’t need to tell anyone that you’re intersex, unless you want to. If you do find out you’re intersex and want to share with others though, there are large communities of people like you online.

There are also university scholarships for intersex people.

Misconceptions About Intersex People

Whether or not you know about intersex people, you’ve likely have heard some common misconceptions about them before. Some of these misconceptions are disheartening and can be painful if you think you may be intersex.

One of these misconceptions is that intersex people have both male and female sexual organs. This is exceedingly rare. Intersex people simply have differing combinations of biological characteristics that place them outside the male/female binary, as we discussed before.

Another common mistake that people make when thinking about intersex people is believing that all of them have had surgeries at birth or during early development. This is false. While many intersex babies are operated on (without consent!), others are left alone.

Most importantly, there’s nothing to “correct”. Intersex people are naturally occurring humans, just like the rest of the population.

Intersex vs. Nonbinary

Another common misconception about intersex people – one that warrants deeper discussion – is that being intersex is the same thing as being nonbinary. These two identities are unrelated to one another entirely.

Nonbinary people are those that do not identify with either of the binary genders that a person can be assigned at birth. They see gender as the spectrum that it is and identify as elsewhere on that spectrum. Some common nonbinary identities are genderfluid (gender can change under different conditions), bigender (both genders at once), or gender non-conforming (an umbrella term that is often abbreviated as “GNC”).

These nonbinary individuals can have full sets of regular male or female genitalia.

On the other hand, intersex people, as we talked about before, have variations in their biological characteristics. Intersex people can be nonbinary if they identify as such, but many intersex people identify as binary men or women.

Like anyone, intersex people can be cis or trans depending on how they were defined at birth.

Frequently Asked Questions

What does intersex mean?

Intersex means that a person was born with variations in their sex characteristics, such as the biological markers described above, including but not limited to internal and external genitalia, gonads, chromosomes, hormone levels, or enzyme production.

Can someone who is intersex have a baby?

In some cases yes, and in some cases, no. It depends on the biological structure and characteristics of the individual person. It should be noted that among non-intersex people, this is equally true: some people can reproduce, while others cannot.

How common is it to be intersex?

Intersex people compose an estimated 1.7% of the population. Most likely this number is low, as not all intersex people are diagnosed and the definition of intersex is open to interpretation.

What is it like to be intersex?

The answer is that it varies for each individual, but in many cases, either medical providers or your family may have hidden or tried to change things about your body. For this reason, it is empowering to learn more about yourself, explore your medical history and connect with other intersex people.

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