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Intersex
Variations
Glossary

People-centereddefinitions ofintersex traits& variations insex characteristics

INTRODUCTION
Welcome! This glossary was created to provide people-centered,educational definitions about a wide variety of intersex variations
and how they can manifest in people's bodies.

Why make this glossary?
While there is information across the internet about these intersex
variations, much of this information is:
Pathologizing, reducing people to “defects;”
Difficult to understand, written in medical journals or studies;
Gendered, in a way that may or may not align with each
person’s gender identity;
Not representative of the full scope of how variations can look.
It also can be difficult to find lists of intersex variations gathered in
one place, and our hope in gathering them together here is toboth raise awareness of intersex variations and counter theisolation people might otherwise feel by showing the wide rangeof traits that exist under the intersex umbrella.

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1What this glossary is NOT:

Fully comprehensive—we are discovering new intersex
variations every day.
A tool to diagnose yourself—we are not doctors, and theinformation in this resource is not medical advice.
A definitive guide of what is intersex and what is notintersex—people may disagree about whether certain
variations should “count” as intersex, although interACT
uses the terms “variations in sex characteristics” and“intersex variations” as synonyms.

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Why include the variations we included?
This glossary takes the perspective that intersex is a broad category,including both traits classically thought of as intersex and those that
may not be. In this resource, we aim to include definitions for any innate
physical trait that falls under the umbrella of variations in sex
characteristics, generally meaning that the variation:Shows up in a person’s chromosomes, genitals, gonads or otherinternal reproductive organs, or how their body produces or
responds to hormones;
Differs from what society or medicine considers to be “typical” or“standard” for the development, appearance, or function of female
bodies or male bodies; andIs present from birth or develops spontaneously later in life.

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Why include the variations we included? (cont'd)Some examples of things that would not be considered variations insex characteristics under these guidelines would be:
Having an uncircumcised penis (since it is typical to be bornwith foreskin)
Experiencing changes related to a typical menopause
Any alterations to sex characteristics caused by a medical
procedure or injury.
Intersex is a spectrum, as is each variation. Not everyone
represented by this list will feel that they fall under the intersex
umbrella—although we encourage everyone here for whom theterm resonates to use it.
If you are only now discovering you might be intersex, we
encourage you to get in contact with our interACT Youth Group (forthose under 29) or InterConnect Support Group (for anyone!).
We hope that anyone represented in this document, whether or notthey identify as intersex, finds the information useful.

interACT: bit.ly/iSpace-intersex
InterConnect: interconnect.support

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4Who is interACT?
We are an advocacy organization. interACT uses innovative
legal and other strategies to advocate for the human rightsof children born with differences in their genitals,
chromosomes, hormones, and reproductive anatomy.

How can I share this resource?
You might consider talking to staff at your local schools,
medical centers, LGBTQIA centers, libraries, or anywhere elsethat could find a glossary useful, to ask if you can provide
them with copies. This glossary is free to print and share.

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A Note on "Typical"
When we are talking about variations in sex characteristics,
we are by definition talking about traits that may not be
considered “typical” since they do not align with the sexrelated stereotypes created by medicine and society.
For clarity, we will use the words “typical” and “typically” inthis glossary to mean that a characteristic, combination ofcharacteristics, or a process of development is considered
typical based on societal or medical standards.
We will use words like “often” or “generally” when describing
the ways that traits tend to show up for a group of people
with a specific variation.
No one’s value depends on whether or not their bodyconforms to sex or gender stereotypes. There is no one
normal or “right” way to be a man, a woman, or a person
outside of the gender binary.

interACT would like to thank InterConnect Support Group who began
this project, and from whom some of our definitions originated.

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CONTENTS
5-alpha reductase deficiency (5-ARD)
9917-beta Hydroxysteroid Dehydrogenase 3 Deficiency (17-beta)
Androgen Insensitivity Syndrome (AIS)
10
Complete AIS
10Partial AIS
10
11
Mild AIS
Anorchia
11
11
Aphallia
11-12
Aromatase Deficiency
Aromatase Excess Syndrome (Hyperestrogenism)
12
Bladder Exstrophy
13
Clitoromegaly
13
Cloacal Exstrophy
13
Chimerism
14
14-15
Congenital Adrenal Hyperplasia (CAH)
15Classic CAH
15
Salt-wasting CAH
Non-classic CAH
15Congenital chordee
15
Cryptorchidism
15
De la Chapelle Syndrome
16
Disorders of Sex Development, Differences in Sex Development, DSD 16
16
Epispadias
Estrogen Insensitivity Syndrome (EIS)
17
Follicle-Stimulating Hormone (FSH) Insensitivity
17
Fraser Syndrome
17
Goldberg-Maxwell Syndrome
18
Gonadal dysgenesis
18
Complete gonadal dysgenesis
18
Partial or mixed gonadal dysgenesis
18
Hermaphrodite
19

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CONTENTS
Hyperandrogenism
Hypogonadism
Hypospadias
Isolated 17,20-lyase deficiency (ILD)
Jacobs Syndrome
Kallmann Syndrome
Klinefelter Syndrome
Leydig Cell Hypoplasia
Type 1 (1 LCH)
Type 2 (2 LCH)
Luteinizing Hormone Insensitivity
Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)
Type 1
Type 2
Micropenis
Mosaicism
Müllerian Duct Anomalies
Ovotesticular DSD (Ovotestes)
Persistent Müllerian Duct Syndrome (PMDS)
Progestin-Induced Virilization
Pseudohermaphroditism
Polycystic Ovary Syndrome (PCOS)
Reifenstein Syndrome
Sex Reversal Syndrome
Swyer Syndrome (Complete Gonadal Dysgenesis)
Trisomy X (Triple XXX Syndrome)
Turner Syndrome (XO Syndrome)
Vaginal Atresia
XXYY Syndrome

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21-22
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22
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23
23
23
23
24
25
25
26
26
27
27
27
27
28
28
29
30
30

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GLOSSARY
5-alpha reductase deficiency (5-ARD)
People with 5-alpha reductase deficiency have XY chromosomes, testes, and produce
typical levels of testosterone, but their bodies do not have the enzyme responsible forconverting testosterone to the more powerful androgen dihydrotestosterone (DHT).
This affects how their external sex characteristics develop, and people born with 5-ARD
will often have genital differences that are noticed at birth. Some will have a penis that
may be smaller than typical, and some will have genitals that do not look either like atypical penis or vulva. Some others will have a vulva and will be assigned female atbirth (possibly without their variation being identified).
In adolescence, people with 5-ARD will likely develop some features associated with atypical testosterone puberty such as increased muscle mass and depth of voice, andthey may experience genital growth at this point as well.

17-beta Hydroxysteroid Dehydrogenase 3 Deficiency(17 beta or 17-beta HSD)
People with 17-beta have XY chromosomes and testes, but their bodies do not haveone of the enzymes needed to synthesize testosterone. Most people with 17-beta areborn with a vulva and vagina, and their testes are most often undescended. Somepeople with 17-beta will be born with genitals that do not clearly resemble a typical
penis or a typical vulva.
Some will have a penis that may be smaller than typical (known as a micropenis), andthe urethra may open on the underside of the penis rather than at the tip (known as
hypospadias). In adolescence, people with 17-beta will often develop somesecondary sex characteristics associated with a typical testosterone puberty.

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9Androgen Insensitivity Syndrome
People born with AIS have XY chromosomes and testes, and their bodies havevarying levels of insensitivity to androgens (including testosterone). This means that
their cells do not respond typically to the testosterone that they produce. Like othervariations in sex characteristics, AIS is a spectrum, with the subcategories ofcomplete (CAIS), partial (PAIS), and mild androgen insensitivity (MAIS).

Complete AIS (CAIS)
People with complete AIS have no response to androgens and are born with avulva and clitoris, usually a shorter-than-typical vagina, and undescended testes.
In adolescence, they will develop breasts and other features associated with atypical estrogen puberty due to the body’s natural conversion of testosterone toestrogen through a process known as aromatization. They will not menstruatesince they do not have a uterus or ovaries.

Partial AIS (PAIS)
In partial AIS, the body has some response to testosterone, but not as much as is
typical for a person with XY chromosomes without androgen insensitivity.
People with PAIS may be born with testes that are undescended or partiallydescended, and with genital differences such as a vaginal opening which may
be shallower than typical, a phallus that may be perceived as a large clitoris or asmall penis, and variations affecting their urethra such as penile hypospadias or
a common urogenital sinus (where the urethra and vagina merge into one
external opening).
They might instead be born with genitals that look more like a penis or like avulva and vagina. In adolescence, they may develop some features that areassociated with a typical testosterone puberty and others that are associatedwith a typical estrogen puberty since their body responds to some of the
testosterone that their gonads produce and the rest will be converted into
estrogen.

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10Mild AIS (MAIS)
People with mild AIS respond to testosterone at a level that is only somewhat
reduced compared to typical levels, which means someone with MAIS willusually be born with a penis (which may or may not be smaller than typical)
and will later develop secondary sex characteristics associated with a typicaltestosterone puberty.
Because their bodies will convert a small amount of their naturally produced
androgens into estrogen, they may have visible variations in features such as
the amount of facial hair, body hair, or muscle tone they develop, and they may
experience some potential breast development during puberty.

Anorchia
A person with anorchia has 46 XY chromosomes and is born without testes. As aresult, they do not produce typical levels of testosterone. Someone with anorchia
will usually have a typical-appearing penis and scrotum because these organs are
already formed by the stage of fetal development when the testes disappear.

Aphallia
People with aphallia have XY chromosomes, testes, and are born without a penis.
This variation is also called penile agenesis. People with aphallia produce typicallevels of testosterone and in adolescence they will develop secondary sex
characteristics associated with a typical testosterone puberty.

Aromatase Deficiency
Anorchia
A person with aromatase deficiency does not have the enzyme responsible forconverting androgens into estrogen (a process known as aromatization). Typically,
most of the androgens that are produced by people with XX chromosomes areroutinely aromatized into estrogen, but the androgens produced by someone with
XX chromosomes and aromatase deficiency will influence the development of theirexternal sex characteristics.

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Aromatase Deficiency (cont'd)
At birth, someone with aromatase deficiency and XX chromosomes may have alarger-than-typical clitoris and their labia may be partially or completely fused(resembling the appearance of a scrotum).
At puberty, they may not develop breasts, may not begin menstruating, and may
develop some secondary sex characteristics associated with a typical testosterone
puberty such as facial hair and muscle mass. They may also develop multiple cysts on
their ovaries.
People with XY chromosomes can also have aromatase deficiency, but it doesn’t
usually cause variations in their sex characteristics (although they may grow taller
than typical since estrogen is usually responsible for closing the bone growth plates).

Aromatase Excess Syndrome (Hyperestrogenism)
People with aromatase excess have increased production of aromatase, whichconverts androgens (like testosterone) into estrogen.
People with XY chromosomes and aromatase excess therefore have more active
estrogen in their bodies than people with XY chromosomes who have typical levelsof aromatase.
They often stop growing at a shorter height because estrogen is responsible forclosing the bones’ growth plates, and they may develop breasts in adolescencealong with features associated with a typical testosterone puberty. Because
aromatase excess is genetic and breast growth in people with XY chromosomes is
one of its most recognizable effects, it was formerly called familial gynecomastia.
People with XX chromosomes can also have aromatase excess, but it doesn’t
usually cause their sex characteristics to vary from what is considered typical for
those assigned female at birth (although they may also experience breast
enlargement and short stature, along with potential menstrual irregularities).

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Bladder Exstrophy
People with bladder exstrophy are born with their urinary bladder exposed (throughan open abdominal wall) or outside of the body. Along with an open abdominal wall,they usually have an open pelvis (resulting from the pubic bones not joining
together), which also causes genital differences.
People with bladder exstrophy and XY chromosomes often have a shorter-thantypical penis with epispadias (meaning the urethra opens on the top surface of thepenis instead of at the tip) and undescended testes.
People with XX chromosomes and bladder exstrophy often have a urethra that isplaced higher than usual, widely spaced labia (due to the wide spacing of their pubic
bones), and a clitoris that forms as two halves with a split in the middle.

Clitoromegaly
A person born with clitoromegaly has a clitoris that is larger than what society
considers to be typical. Clitoromegaly is a trait that can be associated with several
different variations, such as Congenital Adrenal Hyperplasia or Progestin-Induced
Virilization.

Cloacal Exstrophy
A person born with cloacal exstrophy has an open abdominal wall exposing theircolon, bladder, and sometimes other abdominal organs, or these organs may bepositioned outside of the body at birth. The bladder is often split into two halves, andthe colon and bladder may be connected. The anal opening may be blocked or may
not have formed. The pubic bones do not join together (as with bladder exstrophy),Anorchia
resulting in an open pelvis with noticeable genital differences.
People with XY chromosomes and cloacal exstrophy may have a smaller-than-typical
penis that is flat or split into two halves, with an epispadic urethra (opening on the
top of the penis rather than at the tip) and undescended testes. Someone with XX
chromosomes and cloacal exstrophy usually has a clitoris that is split into two halvesand may have two vaginal openings.

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Chimerism
People that have two or more different sets of DNA are called chimeras. Someone
can be born with chimerism when multiple zygotes (such as fraternal twins) combine
and develop into one fetus. “Sex-chromosome discordant chimerism” is when at least
one embryo with XX chromosomes fuses with at least one embryo with XY
chromosomes. A person who develops 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.
Many people with chimerism and XX/XY chromosomes have both ovarian andtesticular tissue, while others have only testes or only ovaries, and still others havegonadal dysgenesis. Some have noticeable genital differences, and others do not.

Complete Androgen Insensitivity Syndrome (CAIS)
See Androgen Insensitivity Syndrome (page 10)
Clitoromegaly
Congenital Adrenal Hyperplasia (CAH)
CAH is a group of different but related genetic variations that affect the enzymes thatallow the adrenal glands to make specific hormones that help regulate the body’sfunctions. People with CAH do not consistently produce the needed amounts ofcortisol (which regulates the response to stress or sickness), aldosterone (which
regulate levels of potassium and sodium), or both, and may naturally produce higherthan-typical levels of androgens such as testosterone to help the body compensate.
Someone with CAH can be born with XX or XY chromosomes. People with CAH and
XY chromosomes are usually not considered to have a variation in sex characteristics
since an increased amount of androgens will not cause the development of any
Anorchia
characteristics that are not considered typical for people assigned male at birth.
In people with XX chromosomes and CAH, the increase in androgen production can
result in genital differences which may be noticed at birth, including a larger-thantypical clitoris, fused labia, and the fusion of the urethra and vaginal canal to form asingle opening. They may also develop some characteristics like body and facial hairor increased muscle mass during childhood or puberty.

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14Classic CAH
The lower levels of cortisol and/or aldosterone production are more
pronounced in a person and the variation is likely to be noticed at birth orshortly after.

Salt-wasting CAH
One subtype of classic CAH that causes “salt-wasting,” a dangerous scenario in
which the low levels of aldosterone cause a person’s body to lose too muchsodium. People with the salt-wasting form of CAH can experience lifethreatening adrenal crises, especially when the body is under stress (for example,
due to an illness or infection, or when undergoing a surgical procedure).

Non-classic CAH
Also called “late-onset CAH” and usually doesn’t become apparent in people
until later in childhood, adolescence, or even young adulthood.

Congenital chordee
Chordee refers to a bend in the penis. Someone born with chordee has a penis thatcurves upward or downward, or bends to one side, usually due to bands of fibrous
tissue that pull the penis in one direction. People with congenital chordee often havehypospadias as well (a variation where the urethral opening is not at the tip of thepenis).

Cryptorchidism
Also referred to as “undescended testicles,” cryptorchidism is a variation in which
one or both of the testes do not descend from a person’s abdomen into theirscrotum. If both testes are undescended, this is known as bilateral cryptorchidism. If
only one of a person’s testes does not descend, this is called unilateralcryptorchidism.

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De la Chapelle Syndrome
Also known as “XX Male Syndrome,” this variation causes a person with XX
chromosomes to be born with a penis and testes. This usually happens because aparticular gene typically seen on Y chromosomes (known as the SRY gene) ends up
on one of their X chromosomes and causes their genitals and internal reproductive
organs to develop as they typically would in someone with XY chromosomes.
People with De la Chapelle might have testes that are smaller than typical or that are
undescended, and they are often infertile. In adolescence, they may experience
breast growth, and might not develop the characteristics that are usually associatedwith a typical testosterone puberty.

Disorders of Sex Development,
Differences in Sex Development, or DSD
These terms have been used to refer to a wide range of variations in sex
characteristics within medical contexts. Many people with variations consider theseterms to be stigmatizing and pathologizing. People may still encounter these terms
in their medical records, and many healthcare facilities with specialty centers that see
intersex patients have chosen to include “DSD” terminology in the clinic name.

Epispadias
In epispadias, a person is born with a urinary opening located on the upper surfaceof their penis rather than at the tip (similar to the more common variation
hypospadias). People with vulvas can also be born with epispadias, in which case theurethral opening is usually wider than typical and located higher than typical(toward or above the clitoris). The clitoris may also be split into two halves.
Epispadias is usually present whenever bladder exstrophy or cloacal exstrophy
develops (where the abdominal wall and pelvis are not closed and the bladder andother organs are exposed or outside the body), but epispadias can also occur by
itself.

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Estrogen Insensitivity Syndrome (EIS)
People with estrogen insensitivity have a genetic variation where their bodies do
not respond to estrogen.
People with XX chromosomes and estrogen insensitivity are usually born with avulva and vagina, may have a small uterus and enlarged ovaries that later develop
multiple cysts, and may produce very high levels of estrogen that their bodies do
not recognize. In adolescence, they will most likely not experience the changes
associated with a typical estrogen puberty such as breast development or
menstruation, and they may develop pubic hair and acne due to the influence of
androgens.
People with XY chromosomes can also be born with estrogen insensitivity, andmay or may not experience variations in their other hormone production, testiculardevelopment, and development of secondary sex characteristics as a result.

Follicle-Stimulating Hormone (FSH) Insensitivity
People with FSH insensitivity have a genetic variation where their bodies do notrespond to this hormone. People with XX chromosomes and FSH insensitivity willusually be born with a vulva, vagina, and ovaries. Their ovaries may produce lower
amounts of estrogen than typical and may not produce fertile follicles (eggs).
In adolescence, they may not develop secondary sex characteristics associated with atypical estrogen puberty and may not menstruate. People 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
People with Fraser Syndrome are usually born with differences in the development of
their eyelids, fingers, and toes, and can have variations in their sex characteristics aswell (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 canadditionally be affected.

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17Goldberg-Maxwell Syndrome
This is another name for Androgen Insensitivity Syndrome (page 10)

Gonadal dysgenesis
Gonadal dysgenesis refers to a group of different variations that affect thedevelopment of the gonads before birth.

Complete gonadal dysgenesis
People with “complete” gonadal dysgenesis (also called “pure” gonadal
dysgenesis) are born with XX or XY chromosomes and gonadal tissue that has
not developed into testicles or ovaries (known as streak gonads).
People with complete gonadal dysgenesis are generally born with a vulva andvagina, and will usually not develop secondary sex characteristics at puberty as
their streak gonads do not produce hormones.

PartialFollicle-Stimulatingor mixed gonadal
Hormonedysgenesis(FSH) Insensitivity
A person with “partial” gonadal dysgenesis (also called “mixed” gonadal
dysgenesis) is born with a mosaic (usually 45X/46XY) chromosome pattern andmay develop some gonadal streak tissue and some testicular tissue.
People with partial or mixed gonadal dysgenesis may be born with a vulva or apenis, or with visible genital variations. They usually have a partially orcompletely developed uterus, and may have combinations of internal
reproductive structures such as a fallopian tube and a vas deferens on opposite
sides of the body.
In adolescence, they may develop some secondary sex characteristics
associated with a typical testosterone puberty, depending on the amount ofhormone-producing testicular tissue that they have.

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18Hermaphrodite
A term originating from Greek mythology referring to a being that is both fully female
and fully male. The term was once adopted in the medical realm to describe people
with intersex variations generally (and later to describe someone with both ovarianand testicular tissue specifically), but it is now recognized to be stigmatizing,
imprecise, and misleading.
Many people in the intersex community consider the use of this term to bepathologizing and deeply offensive, while other intersex people have chosen toreclaim the term to describe themselves and their bodies. Similar to other reclaimed
slurs, you should not use this term to refer to someone else unless you know that they
use this term and that they would like for others to use this term to refer to them.

Hyperandrogenism
People with hyperandrogenism have higher-than-typical levels of testosterone
and/or other androgens. In people with XX chromosomes, hyperandrogenism canFollicle-Stimulating
Hormone(FSH)sex
Insensitivity
result in the developmentof secondary
characteristics that are associated with
the influence of testosterone (such as facial and body hair) to varying degrees.
Hyperandrogenism may or may not be the result of an underlying intersex variation,
but it is common in several variations (including CAH and PCOS). People withhyperandrogenism who aren’t intersex will nonetheless often have many
experiences in common with intersex people, such as encountering exclusion anddiscrimination in sex-segregated contexts like sports.

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

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Hypospadias
A person with hypospadias is born with their urinary opening located somewhereother than the tip of the penis. In “distal” hypospadias, the urinary opening iselsewhere on the glans (head) of the penis, and in “proximal” hypospadias, it is on
the underside of the penis and is sometimes located further back near the scrotum.
Hypospadias is one of the most common and visible genital variations. People withhypospadias often have additional variations like chordee (a bend in the penis) or
cryptorchidism (undescended testicles).

Isolated 17,20-lyase deficiency (ILD)
People with ILD have one of several specific variations in their genes that cause theirbodies to make lower-than-typical amounts of testosterone. They may be born withgenitals that do not appear quite like a typical penis, and their testes may bedescended or undescended.

Follicle-Stimulating Hormone (FSH) Insensitivity
In adolescence, they may not experience all of the changes related to a typicaltestosterone puberty because their variation impacts their hormone production.

Jacobs Syndrome
Also known as XYY Syndrome or 47XYY, people with Jacobs Syndrome develop withan extra Y chromosome.
People with Jacobs Syndrome might not have any obvious physical variations as aresult, but they may be taller than usual or have other identifiable differences that do
not relate to sex characteristics.
Some people with Jacobs Syndrome may also have a smaller-than-typical penis or
scrotum, hypospadias, and/or undescended testicles.

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20Kallmann Syndrome
Kallmann Syndrome can occur in people with XX or XY chromosomes and is a form of
hypogonadism. People with Kallmann Syndrome and XY chromosomes are oftenborn with a smaller-than-typical penis and undescended testes.
In adolescence, most people with Kallmann Syndrome will either start puberty later
than usual, or may not experience typical pubertal changes (such as developing facial
hair and a deeper voice for people with XY chromosomes or developing breasts andstarting to menstruate for people with XX chromosomes) unless they receive
hormone therapy. Kallmann Syndrome also affects someone’s sense of smell.

Klinefelter Syndrome
People with Klinefelter Syndrome develop with an extra copy of the X chromosome,resulting in a 47XXY pattern (instead of the typical 46XY). These individuals might
have smaller-than-typical testes that produce lower amounts of testosterone and/or
sperm, and they may start puberty later than typical (or may not go through puberty
Follicle-Stimulating
Hormone (FSH) Insensitivity
without hormone therapy).
They may grow tall, may develop breast tissue, and often experience infertility. Thisvariation often does not cause obvious physical differences, and many people do notrealize they have it.

Leydig Cell Hypoplasia
People with Leydig Cell Hypoplasia (LCH) have XY chromosomes and a genetic
insensitivity to Luteinizing Hormone, which can be either complete (known as LCH
Type 1) or partial (known as LCH Type 2).
Luteinizing Hormone is typically responsible for the development of Leydig cells in
the testicles, and then signals those cells to produce androgens like testosterone.
Someone with LCH will develop few or no Leydig cells, and therefore will produce
less testosterone than typical.

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Leydig Cell Hypoplasia (cont'd)
Type 1 LCH
People with Type 1 LCH produce almost no testosterone and will usually beborn with a vulva and vagina and undescended testes.
They are usually assigned female at birth, often without their variation being
recognized until adolescence, at which point they generally will not develop
any secondary sex characteristics or experience other changes typicallyassociated with puberty.

Type 2 LCH
People with Type 2 LCH have some response to Luteinizing Hormone andproduce lower-than-typical amounts of testosterone, but more than people
with Type 1 LCH.
At birth, their testes may be descended or undescended, and they may have asmaller-than-typical penis, often with other noticeable differences such as
hypospadias. In adolescence, they will often develop some characteristics
associated with a typical testosterone puberty.

Luteinizing Hormone Insensitivity
People with XY chromosomes and Luteinizing Hormone Insensitivity develop thevariation Leydig Cell Hypoplasia, discussed above. Because people with XX
chromosomes do not typically produce Leydig cells to begin with, someone with XX
chromosomes who has a genetic insensitivity to Luteinizing Hormone will not beaffected in the same way.
A person with XX chromosomes whose body does not respond to Luteinizing
Hormone will not usually have any noticeable differences at birth, but their ovaries
may not produce fertile follicles (eggs), and they may not menstruate.

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22Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)
MRKH is also called Müllerian agenesis because it results when someone’s Müllerianducts, 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 and are usually born with a vulva andeither a vagina that is shorter than typical or with no vagina. They usually do not havea cervix, and may have a partial uterus (uterine remnant) or no uterus.

Type 1In what is known as “Type 1” MRKH, these are usually the only differences
someone will have.

Type 2
In “Type 2” MRKH, people have additional differences in other parts of theirbody such as their fallopian tubes, kidneys, spine, or heart. A specific example
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.
People with either Type 1 or Type 2 MRKH usually have ovaries that produce
estrogen, and in adolescence will generally develop secondary sex characteristics
associated with a typical estrogen puberty. They often do not menstruate, but may
experience cyclic pain if they have a uterine remnant with endometrial lining, and candevelop menstruation-related conditions like endometriosis. (See also: Müllerian Duct
Anomalies.)

Micropenis
A person with a micropenis has a penis that is smaller than the typical size range for
an infant when a person is born. Someone may develop with a micropenis as a resultof several different intersex variations. The size of a person’s penis does not generally
affect its functionality.

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Mild Androgen Insensitivity Syndrome (MAIS)
See Androgen Insensitivity Syndrome (page 10)

Mosaicism
Typical chromosome patterns are either 46XX or 46XY. People with “mosaic”
chromosomes have different chromosome patterns in some cells of their body thanin others. Mosaicism results from random differences in how cells divide while anembryo is growing.
Because of how this process happens, someone with mosaicism will usually havedifferent numbers of chromosomes in different cells – such as 45X/46XX or
45X/46XY, which are both variants of Turner Syndrome, or 46XY/47XXY or
46XX/47XXY, which are both variants of Klinefelter Syndrome.
(If someone specifically has 46XX chromosomes in some cells and 46XY in others,
their variation is probably chimerism instead of mosaicism.)
Having mosaic chromosomes can cause someone to develop variations in theirgenitals, gonads, or hormone function. For example, if they have at least one Y
chromosome, they may have both ovarian and testicular tissue, or genital
differences like hypospadias, or they may develop some secondary sex
characteristics at puberty that are not expected for the sex they were assigned.
People who have mosaicism without a Y chromosome (e.g., 45X/46XX, or
46XX/47XXX) may have “streak” gonads or may have ovaries that stop functioning at
an earlier age than typical, which can cause someone not to experience the changes
associated with a typical estrogen puberty and can cause infertility later in life.
Other people may not have any noticeable signs of their mosaicism at all.

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Müllerian Duct Anomalies
People with XX chromosomes can have a broad range of variations in how theirMüllerian ducts (which typically form the uterus, fallopian tubes, cervix, and upper
portion of the vagina) develop. People with MRKH, also known as Müllerian agenesis,
are at one end of this spectrum, and other people have variations related to theirvaginal, cervical, and/or uterine development that may not be as noticeable. For
example, someone might have a variation that causes their uterus to develop with adifferent shape than typical, or to be doubled.
Others can have vaginal variations such as a “hemivagina” (where one side of thevagina is obstructed, which can sometimes block menstrual blood from exiting), or aband of tissue dividing the vaginal canal (known as a vaginal septum). Someone elsemight have a doubled cervix or a cervix with a septum dividing it. Müllerian Ductvariations usually don’t cause someone to have any variations in their ovaries or
hormone production.

Ovotesticular DSD (Ovotestes)
People with this variation are born with both ovarian and testicular tissue. This canhappen because of a chromosomal variation like chimerism or mosaicism, but mostpeople who have both ovarian and testicular tissue have XX chromosomes, andsome have XY.
A person can develop one testis and one ovary, or may develop one or more
ovotestes, which means that a single gonad is made up of ovarian and testicular cells
together. The levels of hormones they produce can vary, and how their genitals andsecondary sex characteristics develop will depend partially on the levels of estrogenand testosterone that their bodies make.
They may be born with genitals that look more like a vulva, more like a penis, or thathave visible variations. In adolescence they may develop features associated witheither a typical estrogen puberty or a typical testosterone puberty, or they may
develop some of each. Sometimes a person with an ovary and a testis or withovotestes can produce viable sperm and viable eggs.

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Partial Androgen Insensitivity Syndrome (PAIS)
See Androgen Insensitivity Syndrome (page 10)

Penoscrotal Transposition
People with penoscrotal transposition are born with a different genital configuration
than typical, with their penis located below or in the middle of their scrotum insteadof above it. Their scrotum might be bifid (split into two halves), and they may also
have hypospadias and/or chordee.

Persistent Müllerian Duct Syndrome (PMDS)
People with PMDS have XY chromosomes, a penis and testes, and also may have auterus, fallopian tubes, and/or upper vaginal canal. PMDS occurs when the Müllerianducts—internal structures that typically break down in a fetus with XY chromosomes—remain and begin to develop as they would in a fetus with XX chromosomes.
PMDS is usually not noticed at birth, but someone may be discovered to have PMDS
if they start experiencing pain or a hernia.

Progestin-Induced Virilization
A person born with progestin-induced “virilization” has XX chromosomes and may
have visible genital variations at birth such as a larger-than-typical clitoris, sometimes
also with fused or partially fused labia, and may or may not have differences in theirvagina. They usually have typical ovaries, fallopian tubes, and a uterus.
This variation develops in utero as a result of their parent taking progestin medication
while pregnant. Being exposed to these additional hormones before birth canchange how someone’s genitals develop, but generally will not change how theirown body will produce or respond to hormones later on.
This means someone born with progestin-induced virilization will usually develop
features associated with a typical estrogen puberty.

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Pseudohermaphroditism
This is a term that has previously been used in medical contexts to refer to different
groups of variations, usually divided into categories of “malepseudohermaphroditism” and “female pseudohermaphroditism” on the basis of aperson’s chromosomes. People may still find these terms used in their medical
records or in medical journal articles when researching their variation, but they areoften considered highly stigmatizing in addition to being vague and inaccurate.

Polycystic Ovary Syndrome (PCOS)
People with this variation have XX chromosomes and are generally born with a vulva
and vagina, a uterus, and ovaries. Later in life, their ovaries often produce higherthan-typical levels of androgens like testosterone. (PCOS is a common cause of
hyperandrogenism, but not everyone with PCOS has hyperandrogenism.)
This variation in hormone production can result in the development of somecharacteristics such as facial and body hair and can also interfere with the process ofovulation, which means that some people with PCOS will have irregular periods or no
periods and may struggle to become pregnant if they want to.
Some people with PCOS have many small cysts (fluid-filled sacs) on their ovaries, butsome do not. (Despite the name of the variation, ovarian cysts are not a requirement
for someone to be diagnosed with PCOS.) Signs of PCOS generally will not show up
until a person starts menstruating, or potentially later into adolescence or adulthood.

Reifenstein Syndrome
An older, alternative term for Partial Androgen Insensitivity Syndrome (PAIS).
See Androgen Insensitivity Syndrome (page 10).

Sex Reversal Syndrome
This term is sometimes used in medical contexts to refer to different variations inwhich a person is born with XY chromosomes and a vulva and vagina (such as
Complete Androgen Insensitivity Syndrome or Swyer Syndrome), or XX
chromosomes and a penis (such as de la Chapelle Syndrome).

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Swyer Syndrome (Complete Gonadal Dysgenesis)
Swyer Syndrome occurs when a person is born with XY chromosomes, but theirgonads have not developed into testes.
Swyer Syndrome is a form of gonadal dysgenesis, meaning that a person with thisvariation will have “streak” gonads (fibrous tissue that is neither testicular tissue nor
ovarian tissue) that do not produce hormones.
Since they do not produce testosterone, their body does not develop a penis andusually develops a vulva and vagina. Since they do not produce another hormone
known as anti-Müllerian hormone (AMH), they often develop a uterus and fallopian
tubes as well.
They will not usually start puberty or begin menstruating, but some people with
Swyer Syndrome do menstruate (without ovulating) if they receive estrogen therapy.

Trisomy X (Triple XXX Syndrome)
In this variation, a person is born with 47XXX chromosomes instead of the typical
46XX. If they get the additional X chromosome from their parent’s original sperm or
egg cell, they will have 47XXX chromosomes in all of their cells.
If the additional chromosome appears early during the embryo’s development
process instead, only some cells will have 47XXX chromosomes and the person will
be born with a mosaic chromosome pattern.
(Examples of mosaicism involving Trisomy X would be 46XX/47XXX or 45X/47XXX
chromosomes.)
Most people with 47XXX chromosomes do not develop any variations in their othersex characteristics, but some may have ovaries that stop producing hormones at an
earlier than typical age, and some may not menstruate.

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Turner Syndrome (XO Syndrome)
Turner Syndrome is a variation in which a person is born with a 45X chromosome
pattern (sometimes called 45XO) instead of the typical 46XX.
Turner Syndrome can also occur in combination with mosaicism, where some of aperson’s cells have 45X chromosomes and other cells have a different pattern, suchas 46XX or 46XY. This is known as Mosaic Turner Syndrome.
People with Turner Syndrome may have some specific physical features such as
short stature, a webbed neck and broad chest, and medical problems with theirheart.
They can also develop variations in their other sex characteristics as a result of theirchromosome pattern, such as smaller-than-typical ovaries that may stop producing
hormones at a younger age than typical, and they might not menstruate orexperience pubertal changes.
People with Mosaic Turner Syndrome who have 45X/46XX chromosomes may havefewer noticeable signs than people who have a 45X chromosome pattern in all of
their cells. For example, someone with Turner Syndrome is more likely to go
through a typical estrogen puberty and to start menstruating if they have a
45X/46XX chromosome pattern.
Someone with a 45X/46XY chromosome pattern may be born with testicular tissue
that produces hormones, and they often go through a typical testosterone puberty
if so.
People with this form of Turner Syndrome may be born with a penis and scrotum
without any visible variations, or they may have genital differences such as asmaller-than-typical penis or hypospadias, or else they may have a typicalappearing vulva and clitoris.

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Vaginal Atresia
People with this variation may be born without a vaginal opening, sometimes with ashallow “dimple” where an opening would typically be, or they may have a vaginal
opening that is fused or blocked by fibrous tissue.
Someone with vaginal atresia will often have a typical upper vaginal canal (along witha typical uterus, cervix, fallopian tubes, and ovaries) with differences in the lower
portion of the vagina only.

XXYY Syndrome
In this variation, someone is born with an extra copy of both an X and Y
chromosome, resulting in an 48XXYY chromosome pattern instead of the typical
46XY.
People with XXYY chromosomes may often have undescended testes and produce
lower-than-typical amounts of testosterone, which can cause them to start puberty at
a later age than typical and to develop less pronounced secondary sex characteristics
like muscle tone and facial hair. They may also experience breast growth.
They often have other physical features that are similar to those developed by people
with Klinefelter Syndrome (47XXY).

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CONCLUSION
interACT hopes you found this resource valuable—and if you
are a person with one of the variations listed here, we hope
this glossary helps you feel less alone.
If you have any questions, please feel welcome to explore our
website at interactadvocates.org or reach out at
info@interactadvocates.org.
We are a small organization and create resources, advocate forlegal change, and lift intersex people up in the media on abudget that is partially fueled by generous donations fromindividuals.
If you can be one of our supporters, consider making arecurring donation at bit.ly/donate-IAD. Thank you for yoursupport of all people with intersex variations!

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