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5-alpha Reductase Deficiency

5-alpha-reductase is an enzyme converting weaker testosterone into more potent dihydrotestosterone (DHT). When there is little of this enzyme, the baby develops as a girl.  At puberty, though, testosterone production usually rises and can cause ‘virilization’, physical development as a male. Puberty blocking hormones can be used until the child is ready to decide, for themselves, which way they wish to develop at puberty. As there have been cases where the child naturally migrates to a male role, conservative approaches would incorporate listening to the child.

See also Virilization

17-beta Hydroxysteroid Dehydrogenase 3 Deficiency

Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear typically female. In some cases, the external genitalia do not look clearly male or clearly female. Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis.

It is reported that about half of these individuals adopt a male gender role in adolescence or early adulthood, so childhood gender assignment surgeries are discouraged.

See also Ambiguous Genitalia, Hypospadias, Micropenis

21-Hydroxylase Deficiency

This issue is caused by a shortage of the 21-hydroxylase enzyme.  When 21-hydroxylase is lacking, substances, that are usually used to form cortisol and aldosterone, build up in the adrenal glands and are converted to androgens. These androgens can lead to a genetically 46 ‘XX’ child to develop male appearing physical structures during fetal development.

See also Androgens, Congenital Adrenal Hyperplasia

Ambiguous Genitalia

This is a birth variation where the outer genitals do not have the typical appearance of either a boy or a girl. It is often the first sign many doctors or parents see that indicate their child is of an intersex background.

Ambiguous Genitalia can be caused by a variety of conditions and rarely need immediate surgical intervention as long as the child is able to excrete and urinate without complications.

Americans With Disability Act (ADA)

DISCLAIMER: The author of this section benefited from the Americans with Disabilities Act protections for intersex individuals during the 1990s.  As such, the author lists their understanding of the legal protections provided by the Act, but is not a legal scholar, nor attorney, so this section should not be construed as legal advice.


Intersex are covered by the ADA under Section 12102 as those suffering from a medical condition that impairs “a major life activity” which explicitly includes “… endocrine and reproductive functions”.

While Section 12211 denotes that “…homosexuality and bisexuality are not impairments and as such are not disabilities under this chapter.”  Its language excluding transexualism uses the phrase “gender identity disorders not resulting from physical impairments” which does not remove intersex people from protection under the ADA.  Fortunately, LGBT are now protected from workplace discrimination under the 2020 Supreme Court decision “BOSTOCK v. CLAYTON COUNTY, GEORGIA”.

Before the ADA went into effect in 1990, major businesses were able to require all job applicants to affirm they could pass a physical examination.  As having an intersex condition was traditionally deemed as being a physical variation disqualifying one from passing a physical examination, companies implicitly barred us from gaining employment at most major employers.  While an intersex person, at the time, could lie about their medical background and claim to be able to pass a physical examination, they could then be terminated from their job for lying on their job application if their intersex background later came to light.

The Americans with Disabilities Act changed that by requiring that businesses could only disqualify people for not passing a physical examination when the disqualifying condition directly impaired one’s ability to perform their job.  Further under Section 12112, businesses are barred from requiring their own medical examination and making further inquiries into an individual’s condition beyond what the employee and their medical providers wish to share.

To assure protection under the ADA, this author joined a Fortune 500 company in 1994 and soon after notified Human Resources of their being intersex.  By so doing, protected status was gained under the ADA and I was protected from managers and coworkers who found out about, and coerced me for, my intersex background.  In fact, three different managers who assumed they could terminate me, or force me out of their division of the business, months later found themselves out of a position, instead, over an eight year period.

Upon notification of one’s intersex status, Human Resources is to create a medical file with that information and protect that information from typical employee record access, limiting it to the equivalent of a ‘need to know’ status for H.R. and management.  During my eight years, two Human Resources people lost their positions for violating those protections.  If an employee does not notify Human Resources of their medical intersex background, then they may not qualify for protections under the ADA on the basis of the employer claiming that they did not ‘know’ the employee was intersex.  They may have suspected, believed, heard a rumor, etc., but unless directly notified by the employee, protections under the ADA likely will not be in place for subsequent discrimination attempts.

Unfortunately, the Americans with Disabilities Act does curtail protections for disabled, and thus intersex, individuals for jobs “in sensitive positions” within, or for, the Department of Defense, the Nuclear Regulatory Commission, and the Department of Transportation.  So an intersex person may wish to avoid such jobs until greater legal protections are put in place.

The ADA also exempts Private Clubs and Religious Organizations from honoring the disability law, and thus any related protections for intersex people.

While the Americans with Disabilities Act denotes that States are not exempt from the provisions of the ADA, it does defer enforcement when working for the Congress of the United States to the ‘chief official’ of each department and committee chair.  As such, the quality of protections an intersex person my find could depend on the results of the most recent congressional election.  The executive and judicial branches of the federal government are not mentioned within the ADA and, as such, the author has no knowledge of what protections or exclusions one may find while working for those entities.

One final word of caution: Section 12205 of the ADA allows the winning party of any lawsuit to recoup attorneys’ fees, litigation expenses, and other costs at the discretion of the judge.  So if you bring a lawsuit in good faith and win, you would be in good shape.  But if you bring a lawsuit and lose, and the judge didn’t feel you should have brought the case, you may find yourself paying the legal bills of a fortune 500 company…!

If you would like more details about the author of this section’s experience, please use our contact page, here.


An androgen is any natural or synthetic steroidal hormone that regulates the development and maintenance of male characteristics.  They do so by binding to androgen receptors of invertebrates.  This includes the embryological development of the primary male sex organs, and the development of male secondary sex characteristics at puberty. Androgens are created in the testes, the ovaries, and the adrenal glands.

See also Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS)

Androgen insensitivity syndrome is a rare condition that is best known for affecting the development of the genitals and reproductive organs for a child with ‘XY’ genes. An ‘XY’ child born with AIS is deemed genetically male, but the external appearance of their genitals may be female or somewhere between male and female.

Women also respond to androgens and it is possible for ‘XX’ children to be born with limited or no response to androgens, as well, though this most often goes unrecognized as it causes little conflict at puberty.

AIS has common subcategories:

CAIS – Complete Androgen Insensitivity Syndrome results in someone who looks completely female and has no response to androgens.

PAIS – Partial Androgen Insensitivity Syndrome results in someone who has some, but a significantly reduced, response to androgens.

MAIS – Mild/Male Androgen Insensitivity Syndrome results in someone who looks and is functionally male, but has a reduced response to androgens.

See also Androgens, Estrogen Insensitivity Syndrome (EIS)


A person with 46 ‘XY’ genes, which usually corresponds to a male sex, is born without testes. Within a few weeks of fertilization, the embryo develops rudimentary gonads (testes), which produce hormones responsible for the development of the reproductive system.

If testes fail to develop within eight weeks, the baby will develop female genitalia. If testes begin to develop but are lost or cease to function between eight and ten weeks of gestation, the baby will have ambiguous genitalia when born. However, if the testes are lost after fourteen weeks, the baby will have partial male genitalia with the notable absence of gonads.

See also Ambiguous Genitalia, Swyer syndrome


Aphallia refers to being born without a penis, in a patient with otherwise typical male anatomy.

Chimeras / Human chimeras

People that have two different sets of DNA are called human chimeras.  This happens when a woman is pregnant with fraternal twins, but the embryos combine into one fetus.  If both sets of cells share the same general set of sex chromosomes, either ‘XX’ or ‘XY’, the resulting child will appear with typical sex characteristics. If the embryos had differing sex chromosomes, the competing cell development can result in a visible variation in external genitalia as well as internal organs.

In the world of DNA testing to confirm paternity and maternity, it has been found that chimeraism can confuse the test results.  One such story is of Lyndia Fairchild:

See also Ambiguous Genitalia, Mosaicism Involving “Sex” Chromosomes.


Clitoromegaly, or macroclitoris, is an uncommon enlargement of the clitoris. It is congenital or acquired, most often as a result of exposure to excess androgens in fetal life, infancy, or adolescence. It is often associated with Congenital Adrenal Hyperplasia (CAH).

See also Congenital Adrenal Hyperplasia, Female Genital Mutilation

Complete Androgen Insensitivity Syndrome (CAIS)

See Androgen Insensitivity Syndrome.

Concealment-Centered Model

Within medical circles, this model of patient care became popular for intersex babies starting in the 1950s. In this model, parents are urged to quickly decide on a gender assignment for their intersex baby. It was theorized that a child would identify with whatever gender the parents raised them as.

If a child was found to be deviating from the assigned gender, the parents were encouraged to verbally and physically ‘correct’ the child and enforce stereotypical gender norms.

In practice, this model often resulted in life altering, unnecessary genital surgeries, irreversible hormone treatments, and lying to the child about their medical history. This methodology was also called the Hopkins model.

See also Gender Assignment, Gender Identity, Informed Consent, John Money, Patient-Centered Model

Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia is a group of rare inherited autosomal gene disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney.

See also 5-alpha Reductase Deficiency, 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency, 21-Hydroxylase Deficiency


A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.

DSD: Differences of Sex Development / Disorders of Sex Development

DSD was coined in the early 21st century to provide an alternative term for children born with intersex traits.  Originally standing for ”Disorders of Sex Development” it has transitioned to ”Differences of Sex Development” as often times these variations are natural, and not needing immediate medical intervention, if any at all.

See also Intersex

Estrogen Insensitivity Syndrome (EIS)

EIS is caused by a variation in estrogen receptors which leaves the body unable to use, or with a significantly reduced response to, estrogen. The effects of this are similar to a congenital estrogen deficiency, caused by a defect in aromatase, the enzyme responsible for the body’s ability to use estrogens. This latter condition is referred to as ‘Aromatase Deficiency’.

See also Androgen Insensitivity Syndrome (AIS)

Female Genital Mutilation (FGM) / Female Circumcision

Female genital mutilation, also known as female genital cutting, is the cutting or removal of some or all of the external female genitalia in a child assigned female at birth, or a child to be assigned female after the procedure.

See also Clitoromegaly, Intersex Surgery


Gender is how one feels on the inside, typically male or female. This may or may not match their phenotype, or how they appear on the outside. This is a social and cultural role as well as an identity and there is a wide spectrum of how one can feel.

Things that can sometimes, but not always, contribute to gender are genetics, prenatal or possibly postnatal hormones, social, cultural, and environmental influences.

Gender presentation can differ from culture to culture, sometimes with some aspects of one culture being the opposite in another culture. One such example is the Wodaabe.  A nomadic tribe in Africa, they hold an annual fertility festival called Gerewol, where men put on makeup, do their hair and dress in their finest to attract a female mates.

See also Phenotype

Gender Assignment

Labeling a baby as a boy or girl. This does not require surgery.

See also Gender, Gender Identity

Gender Committee / Gender Selection Committee

A group of professionals who, without knowledge of the child’s personality, interests, or gender leanings, conclude amongst themselves what sex a child with ambiguous genitalia should be surgically made. These boards are often assembled at Hospitals and can include endocrinologist, urological surgeons, ethicist, psychologist and clergy of a religion the child has not yet embraced.

Often times these committees are used to pressure parents of intersex children to allow a surgeon to perform a sex assigning surgery, despite there often being no urgent reason for such surgery. The parents, faced with a group of professionals with imposing titles, feel intimidated into accepting a surgeon’s desire to perform these surgeries. Professionals invited to participate in these committees have reported speaking out against such surgeries, only to be out-voted, but then have their name and title used as someone agreeing on the need for surgery.

See also Intersex Surgery

Gender Identity

An individual’s personal feelings about their gender. A person may have a different gender identity than the gender assigned to them at birth. For intersex individuals, a wrongly assigned, paperwork gender has far less emotional impact than a wrongly, surgically assigned sex.

See also Gender, Gender Assignment

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Gonad is generic term used to describe both testes, ovaries, or an ovotestes. It is especially useful when a structure might not appear typical.

See also Mixed Gonad Dysgenesis, Ovo-Testis, Streak Gonads

Gonadal Dysgenesis (partial & complete)

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in a male or female. It is the uncommon development of the gonads in an embryo, with expected reproductive tissue replaced with sometimes functionless, fibrous tissue, termed ‘streak gonads’.

Often gonadal dysgenesis is associated with Swyer Syndrome.

See also Mixed Gonad Dysgenesis, Ovo-Testis, Streak Gonads, Swyer Syndrome.

Gonadal Streaks

Minimally developed gonad tissue present in place of testes or in place of ovaries.

See also Gonad, Gonadal Dysgenesis, Gonadectomy / Orchiectomy, Mixed Gonadal Dysgenesis, Streak Gonads

Gonadectomy / Orchiectomy

Orchiectomy (also named orchidectomy) is a surgical procedure in which one or both testicles are removed (bilateral orchiectomy).

When the gonads are not definitively known to be testicles, the procedure is referred to as a gonadectomy.


See also Gonad, Intersex Surgery


A mythological being that is both fully female and fully male. This is physiologically impossible, and also considered a stigmatizing term.

While some intersex people have reclaimed this term, it should never be used by sex-typical people, much as derogatory racial terms can be used by members of that race, but not by members of other races.

See also Intersex, Pseudohermaphrodite

Hopkins Model

See Concealment-Centered Model


Chemicals created in endocrine glands that regulate physiology and behavior. Sex hormones include androgens, estrogens, and progestogens, among others.

See also Androgens, Androgen Insensitivity Syndrome, Estrogen Insensitivity Syndrome


Hypospadias is a common variation in male fetal development in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. Often, childhood corrective surgery is recommended but as such surgical scarring often does not grow with the child as natural tissue does, such surgeries result in more serious complications and dysfunction as the child grows older.

It is now being recommended that, barring any other life threatening physical issues, corrective surgery be held off until adulthood when the affected person can participate in informed consent. Children with hypospadias should retain their foreskin (not be circumcised) as it can be used for repair during a future surgery.

Informed Consent

The practice of weighing all options, considering evidence, alternatives, and potential risks in order to make a truly informed medical decision. Such decisions are best made over a period of time and not in a rushed fashion.

See also Gender Committee / Gender Selection Committee, Intersex Surgery, Revision Surgery


The term intersex is used to describe someone who is born with variations in sex characteristics. These could include chromosomes, genitals, gonads, or sex hormones which do not fit the typical definitions for male or female bodies.

Intersex Surgery

Often a cosmetic surgical intervention on children which became favored for babies with uncommon genital appearances.  Initially performed and developed in the early 20th century, such surgeries gained popularity by the 1960s and a wall of unresearched rationals have been created to support an ‘urgent need’ for these cosmetic surgeries.

After over fifty years of such surgeries being performed on children without their personal consent, the lifelong consequences have come to light.  These include mis-assigned genders, nerve damage causing lifelong pain & dysfunction, and childhood scarring that does not grow with the rest of the child’s body necessitating frequent ‘revision surgeries’.  These revision surgeries further damage & reduce a child’s original, natural tissue and emotional trauma from such surgeries are caused when the need is not truthfully explained to the child.

See also Gender Committee, Revision Surgery.

John Money

A psychologist in the 1950s who theorized that gender was completely dependent on “nurture.” He advocated for genital surgery on intersex infants and raising them as girls.

His theories have not born-out over the subsequent decades and have resulted in many surgically misgendered children who have had to deal with life long gender dysphoria, depression, sexual dysfunction, bowel and urinary incontinence, and frequent pain from nerve damage.

A patient centered model is now preferred where an intersex child is allowed to grow up and make their own choices on gender and surgical options.

See also Gender Assignment, Gender Identity, Informed Consent, Concealment-Centered Model, Patient-Centered Model


Karyotype is a test that gives a picture of all of the chromosomes present in a single one of your cells. When checking for intersex traits, your doctor may look specifically at the sex chromosomes of a karyotype which are typically XX or XY, but can have many variations, such as XXY, XXXY or others. This test doesn’t provide an exact diagnosis, but it can provide clues to where to look for more information.

See also Sex Chromosome Variations

Klinefelter Syndrome

 Klinefelter syndrome, also known as 47 ‘XXY’, is the set of symptoms that result from two or more ‘X’ chromosomes in males.  The primary features are infertility and small, poorly functioning testicles.  Often, symptoms may be subtle and many people do not realize they are affected.

See also Sex Chromosome Variations

Leydig Cell Hypoplasia (LCH)

Leydig cell hypoplasia is an autosomal recessive condition in which the LHCGR gene does not function typically which leads to a difference in sex development.

Two types of LCH have been defined (Toledo, 1992).  Those with type I, have complete inactivation of LHCGR, and may have a typical female phenotype with 46,XY chromosomes, low testosterone and high LH levels. They can achieve secondary sex characteristics with hormone replacement.

Those with type II, caused by partial inactivation of the gene, can have a phenotype (appearance) anywhere along the spectrum of development. 46, XX Females with inactivating mutations in the LHCGR gene may have difficulty with follicular development and ovulation.

See also Androgens, Differences Of Sex Development

Micropenis / Microphallus

Micropenis is a medical term for a penis, usually diagnosed at birth, that is well under the normal size range for an infant.  In every other way, including structure, appearance, and function, a micropenis is like any other healthy penis.  As the penis is fully functional, childhood corrective surgery is not recommended as such surgical scarring often does not grow with the child as normal tissue does. Such childhood surgeries could result in more serious complications as the child grows up.  It is recommended that, barring any other life threatening physical issues, “corrective” cosmetic surgery be held off until adulthood when the affected person can participate in informed consent.

Mild/Male Androgen Insensitivity Syndrome (MAIS)

See Androgen Insensitivity Syndrome.

Mixed Gonadal Dysgenesis (MGD)

This is when a chromosomal variation causes a child to be born with two different gonads: An undescended testis and a dysgenic (malformed) ‘streak gonad’. It is one of the most common disorders of sexual dysfunction and the second most common cause of ambiguous genitalia.

See also Ambiguous Genitalia, Mosaicism Involving “Sex” Chromosomes, Streak Gonads

Mosaicism Involving "Sex" Chromosomes

Most people have 46 chromosomes in each of their cells, and two of those 46 chromosomes are commonly referred to as “sex chromosomes”.  Most girls and women have two ‘X’ sex chromosomes, most boys and men have an ‘X’ sex chromosome and a ‘Y’ sex chromosome.

People with “mosaic” chromosomes have differing sets of chromosomes in groups of cells, and sometimes organs.  As one has some cells having 46 ‘XX’ genes and other cells having 46 ‘XY’ genes, it’s said the body is made up of a varied set of colored tiles, making a mosaic.

See also Chimeras

MRKH: Mayer-Rokitansky-Küster-Hauser syndrome

MRKH is a congenital disorder of the female reproductive system. Girls with MRKH have normal ovaries and fallopian tubes, an absent or incomplete vagina, no cervix and either an underdeveloped uterus (uterine remnant) or no uterus at all.

Mullerian agenesis

See MRKH: Mayer-Rokitansky-Küster-Hauser syndrome


This is a rare medical term to describe a woman who hasn’t given birth to a child. It has been used in medical files as a placeholder for women lacking reproductive capability.

Ovo-Testis (formerly called "true hermaphroditism")

An ovo-testis is a gonad with both testicular and ovarian aspects. In humans, ovo-testes are an infrequent anatomical variation associated with gonadal dysgenesis. For invertebrates that are normally hermaphroditic, such as most gastropods (snails and slugs), an ovo-testis is a common feature of the reproductive anatomy.

See also Gonadal Dysgenesis, Mixed Gonadal Dysgenesis, Streak Gonads

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Partial Androgen Insensitivity Syndrome (PAIS)

See Androgen Insensitivity Syndrome.

Patient-Centered Model

The preferred model of patient care which allows an intersex person access to factual information about their diagnosis and make decisions based on informed consent.

When an infant is born with an intersex condition that constitutes a real medical emergency (such as an absence of a urethral opening or a serious endocrine imbalance), medical procedures are performed. However Genital “normalizing” surgeries are delayed until a child is mature enough to understand and consent to them.

See also Gender Assignment, Gender Identity, Informed Consent, John Money, Patient-Centered Model

Persistent Müllerian duct syndrome

Children with PMDS have typical male reproductive organs and external genitalia. However, they also have a uterus and fallopian tubes internally. The uterus and fallopian tubes develop from a structure called the Müllerian duct, which is present in both male and female fetuses during development. It commonly breaks down in males, but it remains in those with PMDS. Early signs of PMDS may include undescended testes or inguinal hernias. The uterus and fallopian tubes are often incidentally noticed during surgery to treat such conditions.

See also Cryptorchidism


A satirical measuring device developed by intersex activist Kiira Triea to assess whether a newborn’s phallus is an acceptable size.

See also Micropenis / Microphallus


Phenotype is the physical appearance, or how you look on the outside.


See also Ambiguous Genitalia

Progestin Induced Virilization

Progestin induced virilization arises when a pregnant woman with a female fetus (46 ‘XX’) ingests drugs called progestins, causing the fetus to develop more along the male pathway.


Pseudohermaphrodite is now a disfavored, stigmatizing medical term where persons whose gonads are consistent with their chromosomal sex, but who have external genitalia typical of another sex.

See also Intersex

Revision Surgery

A surgery often performed to address the failings of a previous surgery. For intersex children, these are commonly the result of unnecessary cosmetic surgeries to ‘correct’ the sex of a baby born with ambiguous genitals. As, many times, surgical scarring does not grow at the same rate as surrounding natural tissue, the tension between these can cause pain and sometimes tearing and bleeding. This bleeding has sometimes been misinterpreted by childhood caregivers and resulted in parents being interviewed by police, child protective services, and sometimes resulted in criminal arrest. Revision surgeries can not add tissue to address these occurrences and either transplant tissue from elsewhere on the body, such as skin from a leg, or simply cut away more natural tissue to temporarily address the issues of the previous surgery until a subsequent revision surgery can be scheduled. Given the spiral of surgeries and revision surgeries intersex children can fall into, more intersex organizations and surgical survivors favor any initial surgeries to be postponed until the child has grown and can participate, if not lead, decisions on any surgical options and procedures.


See also Gender Committee, Intersex Surgery

Salt-Wasting CAH (SWCAH)

46, XX salt-wasting CAH (SWCAH) is due to genetic mutations in enzymes of the adrenal gland, which sit on top of the kidneys. These enzymes are chemicals needed by the adrenal gland to make cholesterol into three important hormones that help to regulate the body’s functions: cortisol, aldosterone and androgen.

If one of the enzymes needed to make cortisol and/or aldosterone is not working properly, the adrenal glands fail to work in a balanced way. They make too little cortisol and/or aldosterone, and more androgen than usual. When there is not enough cortisol or aldosterone, babies with SW CAH may become very sick. They can become dehydrated and lose blood pressure if not treated urgently.

A baby with XX SW CAH has a uterus and ovaries, but the genital appearance may be female-typical, male-typical or in between. Babies with other types of CAH may not have genital difference.

See also 21-Hydroxylase Deficiency, Congenital Adrenal Hyperplasia (CAH)


Sex is the physical characteristics of “male” or “female”. A baby develops internal structures that usually can become testes or ovaries at about 7 weeks of gestation.

Sex Chromosome Variations

This content was derived from Cade Hildreth’s great website. Please give it a visit at

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

While most women tend to have ‘XX’ chromosomes and most men tend to have ‘XY’, intersex people may have different combinations of chromosomes.

Common intersex chromosomal makeups include:

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

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

45 ‘X’ (with a ‘Y’ or second ‘X’ missing), known as Turner syndrome
46 ‘XX’ with 46 ‘XY’, known as Mosaicism Involving “Sex” Chromosomes
47 ‘XXX’, known as Trisomy X
47 ‘XXY’, known as Klinefelter syndrome
47 ‘XYY’ with normal phenotype, known as a Klinefelter variant
48 ‘XXXX’
48 ‘XXXY’, known as a Klinefelter variant
48 ‘XXYY’
49 ‘XXXXY’, known as a Klinefelter variant
49 ‘XXXXX’
‘XX’ Male Syndrome
‘XX’ Gonadal Dysgenesis
‘XY’ Gonadal Dysgenesis

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

See also Chimera, Gonadal Dysgenesis, Klinefelter Syndrome, Mixed Gonadal Dysgenesis, Mosaicism Involving “Sex” Chromosomes, Turner Syndrome, Trisomy X

Sex Development

Two parts make up sex development. Sex determination is the process of development in gonads. Sex differentiation is the process of development of the internal and external genitalia, under the influence of what is secreted by the gonads. Both of these together equal sex development. 

All fetuses begin life in a sexually “neutral” or “bipotential” state, with same internal and external structures. Internal structures, or “gonads” are at first neither testes nor ovaries, and genitalia are undeveloped, neither male nor female. Whether a child develops as a boy or a girl depends on the effects of a whole lot of genes, not just having an X or Y chromosome.

What we think of as the typical route of development is first the chromosomal sex, then genetic sex, followed by gonadal sex, then hormonal, followed by phenotypic sex (genitalia), and finally gender. That is a complicated process!


See also Gonads

Sexual Orientation

Sexual orientation is who a person is attracted to, such as males, females, or diverse individuals. This is separate from gender and sex or sex development. Sexual prefferences are the same statistically for those who are intersex as they are for the general population.


See also Gender, Sex, Sex Development

Steroidogenic factor 1 (SF1, NR5A1)

Steroidogenic factor 1 (SF1, NR5A1) is a type of receptor that regulates several genes involved in adrenal and gonadal development, steroidogenesis, and reproductive development.

Gonadal dysgenesis and primary adrenal failure can be caused by a mutation in SF1, as well as 46,XY partial gonadal dysgenesis and typical adrenal function. The phenotype can appear anywhere on the spectrum from typical “male” to typical “female”.

See also Complete Gonadal Dysgenesis

Streak Gonads

Streak gonads contain a mixture of testicular tissue and ovarian tissue.

See also Mixed Gonad Dysgenesis

Swyer Syndrome

Swyer syndrome is a condition that affects sexual development.  Sexual development is usually determined by an individual’s chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual’s chromosomal makeup.

People with Swyer syndrome have typical female external genitalia.  The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads.  Because of the lack of development of the gonads, Swyer syndrome is also called 46 ‘XY’ complete gonadal dysgenesis.  Although there are no known scientific studies which has found this to be true, the residual gonadal tissue is commonly believed to become cancerous later in life.

See also Gonadal Dysgenesis, Streak Gonads

Trisomy X

‘Trisomy X’ affects females and is characterized by the presence of an additional ‘X’ chromosome. Normally, females have two ‘X’ chromosomes whereas females with ‘Trisomy X’ carry three ‘X’ chromosomes in the nuclei of body cells.

This is not considered an intersex condition.

Turner Syndrome

Turner syndrome results when one of the ‘X’ chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Vaginal Agenesis

See MRKH: Mayer-Rokitansky-Küster-Hauser syndrome


Virilization is a condition in which females develop male-pattern hair growth and other physical traits associated with males. Virilization is often due to an imbalance in sex hormones, including male sex hormones such as testosterone.

See also Androgens

We’re in this together.

InterConnect is committed to building a community for all intersex people, their families, and allies. A space where you are heard, valued, and embraced regardless of race, gender, sexuality, ethnicity, socio-economic background, ability, experience, or perspective. A community where you can bring your whole self. We’re in this together, join us.

Our Mission:

InterConnect is a compassionate and affirming community of intersex individuals, family members and allies, working together to promote a better quality of life through connection, support, education and awareness.

Our Vision:

A world in which intersex individuals are celebrated as a natural variation of human biology, and all intersex people feel safe, seen and supported.

Our Values:

We value the journey of intersex people, their families and allies, who support our right to self-determination, dignity, and purpose.


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