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Types of Intersex Conditions

To get beyond a superficial level of understanding about people with intersex conditions, it may be useful to learn more about their diverse physical conditions (increasingly referred to medically as Disorders of Sex Development (DSD)).  By focusing on these physical characteristics, we hope to illuminate one aspect of intersex identity. However, people with intersex conditions are more than their physical conditions.

The vast majority of people with intersex conditions identify as men or as women with unusual medical conditions. While these people may have an intersex condition, they do not describe themselves as "intersex" or "transgender."  However, such people still face the stigma associated with these various conditions, including ridicule, medical objectification, and non-consensual surgeries.

A significant minority of people with intersex conditions identify as intersex--and some identify as transgender. People with intersex conditions who are unhappy with the gender they were assigned at birth are a significant minority. However, many adults (identifying as men, women, intersex, and/or transgender) with intersex conditions are unhappy with the medical care that they have received.

How the Body Works: Sex Differentiation

Note: Specific conditions are outlined very briefly and superficially below. However, this is by no means an exhaustive list of relevant medical terminology or issues.  This list is intentionally written at a very introductory level from a layperson's perspective. For more information, please refer to the additional more specific support resources listed or consult a medical professional.

Conditions with XY chromosomes

XY chromosomes commonly result in a reproductive and sexual anatomy that fits the typical definitions of male

Complete Androgen Insensitivity Syndrome (CAIS)

Complete Androgen Insensitivity Syndrome, or CAIS, is a genetic condition, inherited (except for occasional spontaneous mutations), occurring in approximately 1 in 20,000 XY births.  CAIS may not be discovered until puberty as a result of failure to menstruate.

The newborn infant with complete AIS (CAIS) has XY chromosomes, genitals of normal female appearance, undescended or partially descended testes, and usually a short vagina with no cervix. Occasionally the vagina is nearly absent. Women with AIS do not menstruate and are not fertile. Such infants typically develop breasts at puberty.  Most AIS women have no pubic or underarm hair.

Chromosomes: XY

Infant Appearance: Female

Puberty: Infertile, no menstration

Emergency health concerns: None.

Long-term health concerns: Testicular Cancer

More Resources:

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

Androgen Insensitivity Syndrome Support Group (AISSG)
http://www.aissgusa.org

How the Body Works: AIS and 5-ARD

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Partial Androgen Insensitivity Syndrome (PAIS)

In the case of partial insensitivity (PAIS), the external genital appearance may lie anywhere along the spectrum from male to female. Quite a large proportion of those with a diagnosis of Partial AIS (PAIS) turn out, on subsequent investigation, to have a related but distinct condition.

PAIS may also be referred to as Gilbert-Dreyfus Syndrome, Lubs syndrome, Rosewater Syndrome, or Reifenstein Syndrome, as well as partial (or incomplete) testicular feminization or incomplete androgen insensitivity.

Chromosomes: XY

Infant Appearance: Varies. May include enlarged clitoris, small penis, hypospadias, undescended testes.

Puberty: Infertility. Often breasts develop.

Emergency health concerns: None.

Long-term Health Concerns: Testicular cancer.

More Resources:

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

How the Body Works: AIS and 5-ARD

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5-alpha-reductase Deficiency (5-ARD)

Similar to AIS, infants with 5-alpha-reductase deficiency have XY chromosomes and develop as a girl.  However, the cause of the condition is different than AIS and at puberty, increased testosterone may result in virilization (enlarged phallus, body/facial hair, Adam's apple, deepening of the voice, no breast development).

Often the diagnosis is made during puberty when periods do not begin. Other times there are changes at puberty such as deepening of the voice or enlarging of the clitoris. The experience of individuals and families affected by 5-ARDS in the Dominican Republic is featured in the Discovery Channel documentary, Is it a Boy or a Girl?

Chromosomes: XY

Infant Appearance: Female

Puberty: Infertile, no menstration, may develop masculine features as puberty increases testosterone levels.

Emergency health concerns: None.

Long-term Health Concerns: Osteoporosis, testicular cancer.

More Resources:

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

How the Body Works: AIS and 5-ARD

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Swyer Syndrome/ Mixed Gonadal Dysgenesis (MGD)

Swyer Syndrome is also known as XY gonadal dysgenesis. In Swyer Syndrome, a person is born without functional gonads (sex glands). The gonadal streaks are minimally developed gonad tissue present in place of testes or in place of ovaries. A child born with Swyer looks like a typical female. She will not develop most secondary sex characteristics without hormone replacement because streak gonads are incapable of producing the sex hormones (both estrogen and androgens) that bring about puberty. Swyer Syndrome is often diagnosed during puberty when the periods have not started, and there is also little or no breast development.

Also called: Mixed Gonadal Dysgenesis (MGD)

Chromosomes: XY

Infant Appearance: Female

Puberty: None (infertile, no secondary sex development without hormone replacement treatments)

Emergency health concerns: None.

Long-term Health Concerns: Osteoporosis, gonadal cancer (even in infancy)

More Resources:

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

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Leydig Cell Hypoplasia

Similar to AIS, infants with Leydig cell hypoplasia have XY chromosomes and develop as a girl.  However, the cause of the condition is different than AIS. 
In Leydig cell hypoplasia, the external genitalia are normally female, or only slightly ambiguous. No uterus develops. At puberty, there will be no feminization or masculinization, except for possible development of a small amount of body hair.

Chromosomes: XY

Infant Appearance: Female

Puberty: None (infertile, no secondary sex development without hormone replacement treatments)

Emergency health concerns: None.

More Resources:

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

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Persistent Müllerian Duct Syndrome

Persistent Müllerian Duct Syndrome is a condition where a male has a uterus (typically small and underdeveloped) and/or other female gonadal material. The external genitalia and chromosomal structure (XY) reflect typical male development. The condition is typically diagnosed through pelvic ultrasound, MRI, or abdominal surgery for some other purpose later in life.

Chromosomes: XY

Infant Appearance: Male

Puberty: Male

Emergency health concerns: None.

Long-term Health Concerns:

More Resources:

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Hypospadias, Epispadias, Aposthia, Micropenis, Buried Penis, Diphallia

Hypospadias refers to a urethral meatus (“pee-hole”) which is located along the underside, rather than at the tip of the penis. In some hypospadias, the meatus may be located on the underside of the penis, in the glans. In more pronounced hypospadias, the urethra may be open from mid-shaft out to the glans, or the urethra may even be entirely absent, with the urine exiting the bladder behind the penis. Approximately 1 in 125 males is born with hypospadias, making it one of the most common birth variances.

Hypospadias can occur as an isolated symptom in men with otherwise typical sex development.  It can also occur in conjunction with other intersex conditions such as Klinefelter Syndrome (XXY) or de la Chapelle/XX Male Syndrome.

In epispadias, the urethral opening is formed on top side (epispadias) of the penis, instead of at the tip. Epispadias, which is often more severe than hypospadias, occurs much less frequently.

Aposthia is a rare condition, in which the foreskin of the penis is missing. Many cases of "born circumcised" babies may have actually been hypospadias.

A micropenis is an unusually small penis. The condition can be caused by a variety of hormonal and/or chromosomal conditions.

A buried penis is rare as a congenital condition, but may also develop due to aggressive circumcision, obesity, aging, or chronic inflammation. In this condition, a typical sized penile shaft is buried below the surface of the penile skin or the penis is otherwise partially or totally obscured in the abdomen, thigh, or scrotum.

Diphallia (also penile duplication, diphallic terata, diphallasparatus) is a rare congenital condition (estimated at 1 in 5.5 million men), where two penises develop. Other congenital issues may also be present and there is a higher risk of spina bifida.

Chromosomes: XY

Infant Appearance: Male

Puberty: Typical male.

Emergency health concerns: None.

More Resources:

The Hypospadias and Epispadias Association
www.heainfo.org

How the Body Works: Hypospadias

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Polyorchidism, Cryptorchidism

Polyorchidism is a very rare congenital condition, with fewer than 100 cases reported in medical literature. The most common form is triorchidism, or tritestes, where three testes are present. The condition is usually asymptomatic. Polyorchidism is often discovered incidentally by ultrasound in the course of treating another condition.

Polyorchidism sometimes occurs in conjunction with cryptorchidism, where the additional testicle is undescended or otherwise not found in the scrotum. Unlike Polyorchidism, cryptorchidism is associated with increased risk of testicular cancer.

Chromosomes: XY

Infant Appearance: Male

Puberty: Typical male.

Emergency health concerns: None.

Long-term health concerns: testicular cancer (cryptorchidism)

More Resources:

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Conditions with XX chromosomes

XX chromosomes commonly result in a reproductive and sexual anatomy that fits the typical definitions of female

de la Chapelle/XX Male Sex Reversal Syndrome

A rare condition in which an XX individual develops male genitalia and testes. XX males may have hypospadias or undescended testes at birth. However, most appear to be typical males at birth and do not receive a diagnosis until after puberty. A very small portion of people with XX male syndrome have both testicular and ovarian tissue in their gonads. XX male syndrome occurs in approximately one in 20,000 to one in 25,000 individuals. Many men do not know they have XX male syndrome until they are evaluated for infertility.

Chromosomes: XX

Infant Appearance: Male, possible hypospadias or undescended testicals

Puberty: Infertile, sometimes small testes or breast development

Emergency health concerns: None.

Long-term Health Concerns: Cardiovascular problems, acne; gonadal cancer if ovarian and testicular tissue co-exists

More Resources:

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MRKH/Vaginal (or Müllerian) agenesis

Vaginal agenesis is also called Mayer-von Rokitansky-Kuster-Hauser's syndrome. Girls diagnosed with MRKH have vaginal agenesis, which refers to an absent or incomplete vagina. The uterus is also very small or absent. They have normal ovaries and will experience puberty without having periods. MRKH occurs in about 1 in every 5,000 female infants. MRKH is often diagnosed during puberty when a young woman does not begin menstrating.

Also referred to as Müllerian agenesis, Müllerian dysgenesis, Müllerian aplasia, Rokitansky syndrome

MURCS association is a variant of MRKH syndrome, involving both reproductive and urinary systems. MURCS stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities.

Chromosomes: XX

Infant Appearance: Female

Puberty: No menstration.

Emergency Health Concerns: None.

Long-term Health Concerns: Kidney problems, skeletal issues (esp spinal), hearing loss, heart defects.

More Resources:

MRKH Organization, Inc.
www.mrkh.org

Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org

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XX Gonadal Dysgenesis

XX Gonadal Dysgenesis is a condition where no functional ovaries are present. XX Gonadal Dysgenesis is similar to, but distinct from Turner Syndrome (where XO chromosomes are present) and Swyer Syndrome (where XY chromosomes are present).

Chromosomes: XX

Infant Appearance: Female.

Puberty: Infertility. Lack of development of secondary sex characheristics

Emergency health concerns: None.

Long-term Health Concerns:

More Resources:

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Uterus Didelphys

 A didelphic uterus will have a double cervix and is usually associated with a double vagina. The cause of the condition is not known. Associated atypical conditions may affect the vagina, the renal system and, less commonly, the skeleton. Women with the condition may be asymptomatic and unaware of having a double uterus.

Chromosomes: XX

Infant Appearance: Female

Puberty: Typical female

Emergency health concerns: None.

Long-term Health Concerns: Increased frequency of premature and breech delivery, as well as multiple pregnancy (with each uterus carrying its own fetus)

More Resources:

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Progestin Induced Virilization

Maternal use of androgens or high doses of certain weakly androgenic synthetic progestogens (progestins) structurally related to testosterone can masculinize (virilize) the external genitalia of a female fetus during susceptible times in pregnancy. This can in some cases result in ambiguous genitalia. Affected females mature normally with normal fertility.

Chromosomes: XX

Infant Appearance: Ambiguous or female (with enlarged clitoris)

Puberty: Typical female

Emergency health concerns: None.

Long-term Health Concerns: None.

More Resources:

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Conditions with XX or XY chromosomes

Congenital Adrenal Hyperplasia (CAH)

About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia, but it does not cause intersex in those with XY chromosomes, so the prevalence of CAH-related intersex is about 1 in 20,000 to 1 in 36,000.

CAH can cause an in-utero baby with XX chromosomes to develop masculine characteristics. This same child may experience feminizing puberty and menstration.

Among the many causes of intersex, only CAH represents a real medical emergency in the newborn period. Most states in the U.S. as well as several foreign countries now perform a hormonal test for CAH within the first few days of life.

More specific names include: 17-hydroxylase (17-OH) deficiency syndrome, 21-hydroxylase (21-OH) deficiency syndrome

Chromosomes: XX*
(CAH is also a health concern for XY infants, but does not result in conditions that are considered DSD or intersex)

Infant Appearance: Male

Puberty: Feminizing characteristics, menstration

Emergency health concerns: Lack of cortisone means body cannot respond adequately to stress (incl. common cold, broken bones, surgery, etc)

Long-term Health Concerns: High blood pressure, low blood sugar, testicular cancer (in XY-CAH)

More Resources:

CARES Foundation
http://www.caresfoundation.org

Congenital Adrenal Hyperplasia Education and Support Network
congenitaladrenalhyperplasia.org

How The Body Works: Congenital Adrenal Hyperplasia

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Ovo-testes (formerly called "true hermaphroditism")

Ovotestes are gonads (sex glands) containing both ovarian and testicular tissue. These are sometimes present in place of one or both ovaries or testes. In other words, a person might be born with two ovotestes, or a person might be born with one ovary and one ovotestes, or a person might be born with some other combination.

The fact that a person has ovotestes won’t tell you what his or her genitals looked like when he or she was born. Some people with ovotestes look fairly typically female, some fairly typically male, and some look fairly in-between in terms of genital development.

Chromosomes: XX or XY

Infant Appearance: Ambiguous, often raised as males.

Puberty: May develop breasts.  Many people with XX chromosomes and ovo-testes will menstrate.

Emergency health concerns: None.

Long-term Health Concerns: Gonadal cancer, breast cancer, osteoporosis, cardiovascular problems

More Resources:

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Kallmann syndrome/ Hypogonadotropic hypogonadism (HH)

Hypogonadism is a condition in which the male testes or the female ovaries produce little or no sex hormones. Hypogonadotropic hypogonadism (HH) is a form of hypogonadism that is due to a problem with the pituitary gland or hypothalamus. Kallmann syndrome is an inherited form of HH.

Kallman syndrome is an example of decreased functioning of the gonads. Males present with delayed puberty and may have a small penis. Females present delayed puberty and may lack secondary sex characteristics, such as breast development. Kallmann syndrome occurs at a rate of 1 in 10,000 male births and 1 in 50,000 female births.

Chromosomes: XX or XY

Infant Appearance: Male or Female, congruent with chromosomes

Puberty: Delayed puberty (male: small penis; female: lack of breast development)

Emergency health concerns: None.

Long-term Health Concerns: Osteoporosis

More Resources:

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Aphallia

Aphallia is an extremely rare condition where the phallus (penis or clitoris) is absent. The cause of aphallia is unknown but often co-occurs with other internal anomolies (e.g. musculoskeletal or cardiopulmonary).

Aphallia in men is also called penile agenesis and may be accompanied by testicular agenesis.

Chromosomes: XX or XY

Infant Appearance: Male or Female, congruent with chromosomes, but without a phallus

Puberty: Congruent with chromosomes, unless other relevant anomalies are present

Emergency health concerns: None related to aphallia, but other co-occuring anomalies can be life-threatening.

Long-term Health Concerns: none

More Resources:

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Aromatase Deficiency

Aromatase Deficiency is an extremely rare condition which results in decreased estrogen and increased androgens (since aromatase is key in the conversion of androgens). The condition has been linked to a gene mutation.

XX Females with aromatase deficiency are born with ambiguous genitalia.They are at risk for ovarian cysts early in childhood. Most will not develop typical secondary sex characteristics.

XY Males with aromatase deficiency are born with typical male genitalia, but may have decreased sex drive, abnormal sperm count, or testes that are small or undescended.

Chromosomes: XX or XY

Infant Appearance: ambiguous genitalia (XX) or male (XY)

Puberty: absence of secondary sex characteristics (XX), normal (XY)

Emergency health concerns: None

Long-term Health Concerns: acne, ovarian cysts in early childhood (XX), unusually tall, osteoporosis, hyperglycemia (XY), excessive weight gain, fatty liver

More Resources:

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Cloacal exstrophy

Cloacal exstrophy, one of the most severe congenital anomalies compatible with life, occurs in up to 1 in 200,000 lives births. The condition affects nearly every major organ system with severe neurologic, skeletal, gastrointestinal, and genitourinary ramifications. With increased understanding of the anatomy and embryology combined with refinements in prenatal diagnosis and postnatal care, there is now near-universal survival of patients with cloacal exstrophy.

Chromosomes: XX or XY

Infant Appearance: Often causes the splitting of the phallus (penis or clitoris)

Puberty: Typical, congruent with chromosomes.

Emergency health concerns: Significant reconstruction of major organs is typically key to survival.

Long-term Health Concerns: None

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Conditions with neither XX or XY chromosomes

Klinefelter Syndrome

People with Klinefelter syndrome inherit an extra X chromosome from either father or mother, resulting in a XXY chromosome instead of the more common XY. Klinefelter is quite common, occuring in 1/500 to 1/1,000 male births.

The testes are small (about half typical size) and quite firm. After puberty, the ejaculate contains no sperm. Other effects of Klinefelter are quite variable. Children with Klinefelter are usually born with male genitals that look like other boys. But at puberty, they may not virilize very strongly—they may not develop much body hair, or they may experience breast development.  Although most children with Klinefelter Syndrome grow up to live as men, some do develop atypical gender identities, and some do develop female gender identities.

Karotype 48,XXXY (a.k.a. 48, XXYY syndrome) presents with similar symptoms and is considered a variation of Klinefelter syndrome, but also shows higher rates of additional conditions such as developmental delays, ADHD, autism, anxiety, depression, seizures, etc.

Chromosomes: XXY, XXYY

Infant Appearance: Male.

Puberty: Infertility. Breasts may develop. Limited or no body hair.

Emergency health concerns: None.

Long-term Health Concerns: Breast cancer, obesity, osteoporosis, lupus, hypothyroidism, lymphoma, type 1 diabetes, heart disease; additional concerns with XXYY Syndrome

More Resources:

Klinefelter Syndrome Awareness Council
http://www.klinefeltersyndromeaware.com/

Klinefelter Syndrome Support Group
http://www.klinefeltersyndrome.org/

American Association for Klinefelter Syndrome Information and Support
http://www.aaksis.org/

Klinefelter Syndrome: An Orientation
www.klinefelters.org/about_ks.htm

Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families (archived from 2012)

NIH: Klinefelter Syndrome

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Turner Syndrome (or Monosomy X)

Rare chromosomal genetic syndrome with one X chromosome and no second sex chromosome (X or Y). In a person with Turner Syndrome, female sex characteristics are usually present, but underdeveloped compared to the typical female. The following signs are more common in people with Turner Syndrome than in the general population: short stature, lymphodema (swelling of hands and feet), broad chest and widely spaced nipples, low hairline, low-set ears, and infertility.

Chromosomes: X

Infant Appearance: Female

Puberty: Female, with possible infertility.

Emergency health concerns: None.

Long-term Health Concerns: Heart or kidney problems, hearing loss

More Resources:

Turner Syndrome Society of the U.S.
www.turnersyndrome.org

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Mosaic XY/XO and xy-Turners Syndrome

A person is said to have a “mosaic karyotype” when he or she has one kind of chromosome structure in some of his or her cells, and a different structure in other cells.  The overwhelming majority of people who are a mosaic of XY cells (male) and XO cells (Turner's syndrome female) are externally normal males. Approximately 5% are female with Turner's syndrome and approximately 5% are born with ambiguous genitals.

Any XY/XO child may have any of the medical conditions that are more common among girls with Turner's syndrome. Most XY/XO children appear to be normal, healthy boys.

Chromosomes: XY/XO mosaic

Infant Appearance: Varies, but mostly male. Sometimes female or ambiguous.

Puberty: Typically none, but may have partial virilization. Infertiliy.

Emergency health concerns: None.

Long-term health concerns: Osteoporosis; ovarian/testicular cancer; heart, kidney or thyroid problems; scoliosis.

More Resources:

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Triple-X Syndrome (also Tetrasomy X)

A rare chromosomal genetic syndrome with one or more extra X chromosomes, leading to XXX (or more rarely XXXX or XXXXX), instead of the usual XX (female) or XY (male). These people are females as they have no Y male chromosome, but have an additional female X chromosome. Women can be largely unaffected, or may suffer from problems such as infertility (some but not all).

Triple X syndrome is also known as triplo-X, trisomy X, XXX syndrome,  or by karotype 47,XXX .

Tetrasomy X and may also be referred to as quadruple X or by karotype 48, XXXX.

Chromosomes: XXX (or XXXX)

Infant Appearance: Female

Puberty: Female, with possible infertility.

Emergency health concerns: None.

Long-term Health Concerns: Learning disabilities

More Resources:

Triplo-X Syndrome
www.triplo-x.org

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Jacobs/XYY Syndrome

A rare chromosomal genetic syndrome where the person has an extra Y male chromosome, becoming XYY. The person is male and may be mostly normal, or may suffer from minor features from excess male hormones, such as excess acne being very tall, and in some cases behavioral complaints such as aggression.

Chromosomes: XYY

Infant Appearance: Male.

Puberty: Male.

Emergency health concerns: None.

Long-term Health Concerns: Learning disabilities, acne, joint problems

More Resources:

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Trans Basics
Gender
Gender vs. Sexuality
Transgender
Beyond the Binary
Intersex
Myths and Realities
Types of Intersex
Terminology
Intersex and Trans
What is it like?
Labels and Vocabulary
Myths and Sterotypes
Children and Youth
Is it an Illness?
 


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