The Transgender Dictionary
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Intersex

Table of Contents

Introduction

While intersex people are not inherently considered to be transgender, many do identify as being transgender. It is not uncommon for intersex people to have complex relationships regarding gender. What an intersex person will identify with or as varies from person to person. All that being said, intersex people are often brought up in conversations regarding transgender people, so this page exists to clear up some misconceptions. On a similar note, intersex people are not inherently considered to be nonbinary, though some intersex people will identify as nonbinary (or another gender other than male or female). This will vary from person to person, as everyone has their own unique experiences.

Intersex is an umbrella term reffering to variations in sexual characteristics that fall outside of what is typically considered "male" or "female." There is a massive range of intersex conditions including but not limited to hormonal, internal, external, and physical variations.

Before we continue, no, intersex people and animals are not "biologically nonbinary." Biological intersex variations ≠ human nonbinary gender identity. No, you cannot transition to become intersex (the words you may be looking for could be "altersex" or "salmacian").

General Information

While intersex people are commonly thought of as people who have mixed/ambiguous genitalia, this is not the case for all or most intersex people. Intersex variations cover a wide variety of conditions that do not all present as distinct genital differences. Intersex children are often subject to IGM and grow up being medicalized and exposed to intersexism. Some intersex people are forced to undergo HRT as children, others willingly go on it at older ages.

Medical Experiences

It is not uncommon for intersex infants to undergo surgeries or hormonal treatments to appear as though they are not intersex. These procedures are often unnecessary, harmful, and overall traumatizing.

Due to the general desire of doctors to hide 'less noticable' intersex conditions or alter babies with 'more noticable' intersex conditions; many intersex people grow up not even realizing that they are intersex. Some don't find out until adulthood, and others never find out. Some intersex conditions don't present themselves in a noticable way until puberty or adulthood.

It can be hard to determing how many people are, in fact, intersex; due to underdiagnosis and medical abuse.

Intersex Flag

The colors yellow and purple were chosen for the intersex flag because they were seen as being free from gendered associations.

The circle is described as "unbroken and unornamented, symbolizing wholeness and completeness, and our potentialities."

Intersex Variations

Please note that all intersex variations are conditions that one is born with. You cannot transition to become intersex. Most of these conditions exist on a spectrum, and no two people with the same disorder present exactly the same.

5-Alpha Reductase Deficiency (5-ARD)

Someone with this disorder has XY chromosomes, testes, and produces typical levels of testosteorne. That being said, someone with this disorder does not have the enzyme responsible for converting testosterone into the more powerful anti-androgen known as dihydrotestosterone (DHT). Some people will be born with ambiguous genitalia. Some will have a micropenis. Some will have a vulva and be assigned female (possibly without being identified as intersex).

During puberty, someone with 5-ARD will typically develop some features assiciated with a typical testosterone-based puberty, such as increased muscle mass, depth of voice, and possible genital growth.

17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (17 beta or 17-beta HSD)

People with this disorder have XY chromosomes and testes. They do not have one of the enzymes needed to synthesize testosterone. Most people with this disorder have a vagina, vulva, and undecended testes. Some have ambiguous genitalia. Some have a micropenis that may have a urethral opening on the underside; rather than at the end.

During puberty, people with 17 beta will often develop secondary sex characteristics associated with a typical testosterone puberty.

Androgen Insensitivity Syndrome/AIS/Goldberg-Maxwell Syndrome

Those who have AIS have testes and XY chromosomes. The bodies of people with AIS have varying levels of insensitivity to androgens. This means that their cells do not respond typically to the testosterone being produced.

Complete Androgen Insensitivity Syndrome/CAIS

Someone with CAIS is born with a clitoris, vulva, undecended testes, and usually has a vagina that is shorter than what is considered typical. They will not menustrate, due to a lack of ovaries and a lack of a uterus. People with CAIS have no response to androgens, and will develop breasts (as well as other features consistent with an estrogen-based puberty). The body will naturally convert testosterone into estrogen through a process called aromatization.

Partial Androgen Insensitivity Syndrome/PAIS

Someone with PAIS will have less of a response to testosterone than someone who has no XY chromosomes and no androgen insensitivity. Someone with PAIS will have more of a response to testosterone than somoene with CAIS. They may have partially decended or undecended testicles. They may have genital differences such as a phallus that may be perceived as a large clitoris or a micropenis, and/or a vagina that may be shallower than typical. They may have variations affecting the urethra such as a common urogenital sinus (where the urethra and vagina merge into a single external opening) or penile hypospadias.

Someone who has PAIS may have genitalia that looks more like a vulva & vagina or more like a penis. Someone with PAIS may go through puberty and develop traits typically associated with both an estrogen-based puberty and that of a testosterone-based puberty.

Mild Androgen Insensitivity Syndrome/MAIS

Someone who has mild androgen insensitivity syndrome responds to testosterone less than what is typical for someone born with XY chromosomes, but more than someone with other variations of androgen insensitivity syndrome. Someone who has MAIS may have a penis that is smaller than average, and will develop secondary sex characteristics associated with a typical testosterone-based puberty. As the body of someone with MAIS will convert a small amount of naturally produced androgens into estrogen, there may be visible variations regarding the amount of muscle done, body hair, and/or facial hair developed during puberty. There is also a potential for some breast development during puberty.

Anorchia

An individual with anorchia is born without testes and has 46 XY chromosomes. People with Anorchia do not produce typical levels of testosterone. Usually, the body of somoene with anorchia will have a typical-appearing penis and scrotum; as those organs are already formed by the stage of fetal development when the testes disappear.

Aphallia/Penile Agenesis

Someone with aphallia has testes, XY chromosomes, and is born without a penis. People who have aphallia will produce typical levels of testosterone during adolecense and will develop the secondary sex characteristics associated with a typcial testosterone-based puberty.

Aromatase Deficiency

A person who has an aromatase deficiencey does not have aromatase, the enzyme responsible for aromatization. At birth, someone with XX chromosomes and aromatase deficiency may have a partially or completely fused labia (resembling the appearance of a scrotum) and larger-than-typical clitoris. Typically, most of the androgens that are produced by people with XX chromosomes are routinely aromatized into estrogen, but the androgens produced by somoene who has both XX chromosomes and an aromatase deficiency will influence the development of their external sex characteristics. During puberty, they may not begin menstruating, may not develop breasts, and may develop some secondary sex characteristics associated with a typical testosterone-based puberty (such as facial hair and muscle mass). Somoene with aromatase deficiency may develop multiple cysts on their ovaries.

Someone with XY chromosomes can also have aromatase deficiency, but in this case it does not typically cause variations in their sex characteristics. However, someone with XY chromosomes and an aromatase decficiency may grow taller than typically, as estrogen is the hormone that is usually responsible for closing the bone growth plates.

Aromatase Excess Syndrome/Hyperestrogenism

Someone with aromatase excess has an increased production of aromatase, the enzyme responsible for aromatization. Aromatase excess is a genetic condition.

The body of somoene with XY chromosomes and aromatase excess will therefore have more active estrogen than the body of a person with XY chromosomes and typical levels of aromatase. As estrogen is responsible for the closing of the bones' growth plates, someone with aromatase excess syndrome will often stop growing at a shorter height. They may develop breasts in adolescence, along with features associated with a typical testosterone-based puberty. Hyperestrogenism was formerly referred to as "familia gynecomastia" due to the development of breasts in those with XY chromosomes being one of the most recognizable effects.

The body of someone with both an aromatase excess and XX chromosomes does not typically have sex characteristics that vary dramatically from that of somoene without aromatase excess going through a typical estrogen-based puberty. That being said, someone with XX chromosomes and aromatase excess may experience breast enlargment, a short stature, and potential menstrual irregularities.

Bladder Exstrophy

Someone with bladder exstrophy is born with their urinary bladder exposed; either through an open abdominal wall, or outside of the body. Someone with bladder exstrophy usually also has an open pelvis, resulting from the pubic bones not joining together. This can cause genital differences.

The body of someone with bladder exstrophy and XY chromosomes often has a shorter-than typical penis with epispadias (meaning that the urethra opens on the top surface of the penis) and undecended testes.

The body of somoene with bladder exstrophy and XX chromosomes often has a widly spaced labia (due to the wide spacing of the pubic bones, a urethra that is plased higher than usual, and a clitoris that forms as two halves split down the middle.

Clitoromegaly

Clitoromegaly is a trait that can be associated with several different intersex variations, such as progestin-induced virilization and congenital adrenal hyperplasia. Clitoromegaly is when someone is born with a clitoris that is larger than what is sociall considered to be "typical."

Cloacal Exstrophy

The body of someone with cloacal exstrophy has an open abdominal wall exposing their bladder, colon, and sometimes other abdominal organs. These organs may also be positioned outside of the body at birth. The anal opening may be blocked or may not have formed. The bladder is often split in two halves, and the colon and bladder may be connected. The pubic bones do not join together and, similar to bladder exstrophy, results in an open pelvis with noticable gential differences.

The body of someone with cloacal exstrophy and XY chromosomes may have undecended testes and a smaller-than-typical penis that is flat or split in two halves. The urethra may open at the top of the penis, which is known as an epispadic urethra.

The body of someone with clocal exstrophy and XX chromosomes usually has a clitoris that is split in two halves, and may have two vaginal openings.

Chimerism

Someone with two or more different sets of DNA is known as a chimera. Many people with chimerism and XX/XY chromosomes haveboth ovarian and testicular tissue, while others have only testes or only overaies. Others still have gonadal dysgenesis. Some have noticable genital differences while others do not.

Someone can be born with chimerism when multiple zygotes combine and develop into one fetus (this can occur in the case of fraternal twins).

"Sex-chromosme discordant chimerism" is when at least one embryo with XY chromosomes fuses with at least one embryo with XX chromosomes. A person who develops in this way would have sets of both XX and XY chromosomes, for a chromosome pattern of 46XX/46XY, and could have a wide variety of different possible sex characteristics.

Congenital Adrenal Hyperplasia/CAH

A person with CAH can be born with XX or XY chromosomes. CAH refers to a group of difrferent but related genetic variations that affect the enzymes that allow the adrenal glands to make specific hormones that help regulate the body's functions. Somoene with CAH does not consistently produce the needed amounts of aldosterone (which regulars levels of potassium and sodium), cortisol (which regulates the response to stress or sickness), or both. This may result in naturally producing higher-than-typical levels of androgens, such as testosterone, to help the body compensate.

The body of someone with CAH and XY chromosomes is not usually considered to have a variation in sex characteristics, since an increased amount of androgens will not cuase the development of any characteristics that are not considered typical for people assigned male at birth.

The body of someone with CAH and XX chromosomes may have genital differences that may be noticed at birth caused by this increased androgen production. These differences may include a clitoris that is larger than typical, the fusion of the urethra and vaginal canal into a single opening, and a fused labia. They may also develop certain characteristics during childhood or pubety such as body hair, increased muscle mass, and facial hair.

Classic Congenital Adrenal Hyperplasia

Classic CAH is more likely to be noticed at or shortly after birth as the lower levels of cortisol and/or aldosterone production are more pronounced.

Salt-Wasting Congenital Adrenal Hyperplasia

This is a subtype of classic CAH that cuases "salt-wasting." "Salt-wasting" is a dangerous scenario in which the low levels of aldosterone cause a person's body to lose too much sodium. A person with the salt-wasting form of CAH can experience life-threatening adrenal crises, particularly when the body is under stress; such as when undergoing a surgical procedure or due to illness or infection.

Non-Classic Congenital Adrenal Hyperplasia/Late-Onset CAH

This variation of Congenital Adrenal Hyperplasia does not become apparent in people until later in childhood, adolescence, or even young adulthood.

Congenital Chordee

Chordee refers to a bend in the penis. A person that is born with chordee has a penis that curves downward, upward, or bends to one side. This is usually caused by bands of fibrous tissue that pull the penis in one direction. Someone with congenital chordee often also has hypospadias.

Cryptorchidism/Undescended Testicles

This is an intersex variation where one or both of the testes do not descend from a person's abdomen into their scrotum. Bilateral cryptorchidism is when both testes are undescended. Unilateral cryptochidism is when only one of the testes does not descend.

De la Chapelle Syndrome/XX Male Syndrome

Someone who has this intersex variation is born with XX chromosomes in addition to a penis and testes. This occurs when a particular gene known as the SRY gene (typically found on Y chromosomes) ends up on one of the X chromosomes and caused the genitals and internal reproductive organs to develop as they typically would in someone with XY chromosomes. The testes of someone with De la Chapelle syndrome may be smaller than typical, undescended, and often infertile. In adolescence, someone with this intersex variation may experience breast growth, and might not develop the characteristics that are usually associated with a typical testosterone-based puberty.

Epispadias

Epispadias is when a person is born with a urinary opening that is located on the upper surface of the penis rather than at the tip. This is similar to the more common variation hypospadias.

A person with a vulva can also be born with epispadias. In that case, the urethral opening is usually located higher than typical (toward or above the clitoris), and is wider than typical. The clitoris may also be split into two halves.

Epispadias is usually present whenever the afformentioned bladder exstrophy or cloacal exstrophy develops, but it can also occur on its own.

Estrogen Insensitivity Syndrome/EIS

The body of somoene with estrogen insensitivity syndrome does not respond to estrogen.

The body of somoen ewith EIS and XX chromosomes is usually born with a vulva and vagina. They may have a small uterus, and enlarged ovaries that later develop multiple cysts. They may produce very high levels fo estrogen that their bodies do not recognize. They may not experience the changes that are associated with a typical estrogen-based puberty; such as breast development or menstruation. They may develop pubic hair and acne due to the influence of androgens.

The body of someone with EIS and XY chromosomes may or may not experience variations in their other hormone production, testicular development, and development of secondary sex characteristics.

Follicle-Stimulating Hormone (FSH) Insensitivity

The body of someone with FSH insensitivity does not respond to FSH.

Someone with FSH insensitivity and XX chromosomes is usually born with a vagina, vulva, and ovaries. The ovaries may produce lower amounts of estrogen than what is typical, and may not produce fertile eggs. They may not develop secondary sex characteristics associated with a typical estrogen-based puberty and may not menstruate.

Someone with XY chromosomes and FSH insensitivity may develop smaller than typical testes, may produce fewer sperm than usual, and may not be fertile.

Fraser Syndrome

Someone with Fraser Syndrome is usually born with differences in the development of their fingers, toes, and eyelids. They can also have variations in their sex characteristics, such as a larger-than-typical clitoris or undescended testes. They may also develop without one or both kidneys and other parts of the urinary system can additionally be affected.

Gonadal Dysgenesis

This is a group of different variations that affect the development of the gonads before birth.

Complete Gonadal Dysgenesis/Pure Gonadal Dysgenesis

The body of a preson with complete gonadal dysgensis has either XX or XY chromosomes and gonadal tissue that has not developed into testicles or ovaries (known as streak gonads). A person with complete gonadal dysgensis is generally born with a vulva and a vagina. They will usually not develop secondary sex characteristics at puberty, as streak gonads do not produce hormones.

Partial Gonadal Dysgenesis/Mixed Gonadal Dysgenesis

Someone with partial gonadl dysgenesis is born with a mosaic (usually 45X/46XY) chromosome pattern and may develop some testicular tissue and some gonadal streak tissue. They may be born with a penis, a vulva, or with visible genital variations. They usually have a partially or completely developed uterus, and may have combinations of internal reproductive structures, such as a vas deferens and a fallopian tube on opposite sides of the body. They may develop some secondary sex characteristics associated with a typical testosterone-based puberty, depending on the amount of homrone-producing testicular tissue present.

Hyperandrogenism

Someone with hyperandrogenism has higher-than-typical levels of testosterone and/or other androgens. In people with XX chromosomes, this can result in the development of secondary sex characteristics that are associated with the influence of testosterone (such as facial and body hair) to varying degrees. Hyperandrogenism may or may not be there result of an intersex variation, though it is common for those with variations such as CAH and PCOS. People with hyperandrogenism that are not intersex will often have may experiences in common with intersex people, such as encountering exclusion and discrminination in contexts where participants are separated by sex; such as in sports.

Hypogonadism

The body of a person with hypogonadism produces lower-than typical levels of testosterone and estrogen, or sometimes none at all. This can effect the development of their secondary sex characteristics, and can also affect fertility. Hypogonadism can result in a difference in how someone's brain signals the gonads to produce (or not produce) hormones or it can be a feature of their gonads directly. Hypogonadism is not always cuased by an intersex cariation, but it can be related to Turner Syndrome, Klinefelter Syndrome, or several other variations.

Hypospadias

A person with hypospadias is born with their urinary opening located somewhere other than the tip of the penis. In distal hypospadias, the urinary opening is elsewhere on the glans, and in proximal hypospadias, it is on the underside of the penis, sometimes located further back near the scrotum. Hypospadias is one of the most common and visible genital variations. Someone with hypospadias often has an additional intersex variation, such as chordee or cryptorchidism.

Isolated 17,20-lyase deficiency/ILD

Someone with ILD has one of several specific variations in their genes that cause their bodies to make lower-than-typcial amounts of testosterone. They may be born with genitals that do not appear quite like a typical peni, and their testes may be descended or undescended. Someone with ILD may not experience all of the changes related to a typical testosterone-based puberty, due to how this intersex variation impacts hormone production.

Jacobs Syndrome/47XYY/XYY Syndrome

Someone with Jacobs Syndrome might not have any obvious physical variations as a result, but they may be taller than usual or have other identifiable differences that do not relate to sex characteristics. They may also have hypospadias, a smaller-than-typical penis or scrotum, and/or undescended testicles.

Kallmann Syndrome

Kallmann Syndrome is a form of hypogonadism. Most people with this intersex variation will start puberty later than usual. Kallmann Syndrom may also affect someone's sense of smell.

The body of someone with Kallmann Syndrome and XY chromosomes typically has a smaller-than-typical penis and undescended testes. They may not experience typical pubertal changes, such as developing facial hair or a deeper voice.

The body of someone with Kallmann Syndrome and XX chromosomes may not experience typical pubertal changes such as delveloping breasts and starting to menstruate.

Klinefelter Syndrome

Someone with Klinefelter Syndrome developes an extra copy of the X chromosome, resulting in a 47XXY pattern (as opposed to the typical 46XY). These individuals may have smaller-than-typical testes that produce lower amounts of testosterone and/or sperm. They may start puberty later than typical, or be unable to go through puberty without hormone therapy. They may develop breast tissue, may grow tall, and often experience infertility. This intersex variation often does not cause obvious physical differences, resulting in many people not realizing that they have it.

Leydig Cell Hypoplasia/LCH

The body of somoene with Leydig Cell Hypoplasia (LCH) has XY chromosomes and a genetic insensitivity to Luteinizing Hormone. Luteinizing Hormone is typically responsible for the development of Leydig cells in the testicles, and then signalling those cells to produce androgens such as testosterone. Someone with LCH will develop no or few Leydig cells, and will therefore produce less testosterone than typcial.

Type 1 LCH/Complete LCH

Someone with Type 1 LCH produces almost no testosterone and will usually be born with a undescended testes, a vulva, and a vagina. They are usually assigned female at birth. This intersex variation is often not recognized until adolescence, at which point they generally will not develop any secondary sex characteristics or experience other changes typically associated with puberty.

Type 2 LCH/Partial LCH

Someone with Type 2 LCH has some response to Luteinizing Hormone, and produces more testosterone than someone with Type 1 LCH, but less than typical. At birth, their testes may be descended or undescended. They may have a smaller-than-typical penis, and often have other noticable differences, such as hypospadias. In adolescense, they often develop some characteristics associated with a typical testosterone-based puberty.

Luteinizing Hormone Insensitivity

The body of somoene with XY chromosomes and Luteinizing Hormone Insensitivity develops a variation of LCH (as discussed above).

As someone with XX chromosomes does not typically produce Leydig cells to begin with, someone who has XX chromosomes and this insensitivity will be affected in a different way (compared to someone with XY chromosomes). Someone with XX chromosomes and this intersex variation does not usually have any noticable differences at birth, but may not menstruate, and their ovaries may not produce fertile eggs.

Mayer-Rokitansky-Küster-Hauser Syndrome/MRKH/Müllerian Agenesis

MRKH results when someone's Müllerian ducts, which typically become the uterus and upper portion of the vagina during fetal development, do not develop in the typical way. People with MRKH have XX chromosomes. They are usually born with a vulva and either no vagina, or a vagina that is shorter that is typical. They may have a partial uterus (uterine remnant) or no uterus. They usually do not have a cervix.

People with MRKH usually have ovaries that produce estrogen, and will generally develop the secondary sex characteristics associated with a typcial estrogen-based puberty. They usually do not menstruate, but may experience cyclic pain if they have a uterine remnant with endrometrial lining. They can develop menstruation-related conditions such as endometriosis.

Type 1 MRKH

In "Type 1" MRKH, the person will only have the variations listed in the above section.

Type 2 MRKH

Someone with "Type 2" MRKH will have additional differences in other parts of their body such as their fallopian tubes, spine, heart, or kidneys. An example of of Type 2 MRKH is known as Müllerian agenesis, Renal agenesis, Cervicothoracic Somite (MURCS) Association, where someone’s kidneys do not develop typically and they may have scoliosis or fused vertebrae in addition to the usual features of MRKH.

Glossary

Note that some additional terms can be find in the primary definition tabs of The Transgender Dictionary.

Additional Resources (explicit!)