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 identify as intersex--and some identify as transgender. People with intersex 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
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.
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
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
Swyer Syndrome
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.
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
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
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.
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 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:
MRKH/Vaginal 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.
Chromosomes: XX
Infant Appearance: Female
Puberty: No menstration.
Emergency Health Concerns: None.
Long-term Health Concerns: Kidney problems, hearing loss.
More Resources:
MRKH Organization, Inc.
www.mrkh.org
Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org
Mullerian (Duct) Aplasia
Mullerian Aplasia is very similar to MRKH. In Mullerian Aplasia, there is an absence of the upper vagina, cervix and uterus, with incomplete or absent Fallopian tubes but normal ovarian function. Normal external genitalia, breast development and pubic hair. Lack of menstruation.
Chromosomes: XX
Infant Appearance: Female
Puberty: No menstration.
Emergency Health Concerns: None.
Long-term health Concerns: Kidney problems, spinal problems.
More Resources:
MRKH Organization, Inc.
www.mrkh.org
Androgen Insensitivity Syndrome Support Group (AISSG)
www.aissg.org
Conditions with XX or XY chromosomes
Hypospadias and Epispadias
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.
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.
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.
Chromosomes: XY
Infant Appearance: Male
Puberty: Typical male.
Emergency health concerns: None.
More Resources:
The Hypospadias and Epispadias Association
www.heainfo.org
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.
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
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:
Kallmann syndrome
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.
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.
Chromosomes: XXY
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
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
http://www.aaa.dk/TURNER/ENGELSK/KLINE.HTM
Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families
www.nichd.nih.gov/publications/pubs/klinefelter.cfm
Turner Syndrome
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
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:
xyTurners
www.xyxo.org
Triple-X Syndrome
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).
Chromosomes: XXX
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
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.
Types of Intersex Conditions
