|Medicine and biology|
Intersex, in humans and other animals, describes variations in sex characteristics including chromosomes, gonads, or genitals "that do not fit typical binary notions of male or female bodies". Such variations may involve genital ambiguity, and combinations of chromosomal genotype and sexual phenotype other than XY-male and XX-female. Intersex people were previously referred to as hermaphrodites, but the term has fallen out of favor as it is considered to be misleading and stigmatizing.
Some intersex infants and children, such as those with ambiguous outer genitalia, are surgically or hormonally altered to create more socially acceptable sex characteristics. However, this is considered controversial, with no firm evidence of good outcomes. Such treatments may involve sterilization. Adults, including elite female athletes, have also been subjects of such treatment. Research in the late 20th century indicates a growing medical consensus that diverse intersex bodies are normal—if relatively rare—forms of human biology.
Increasingly these issues are recognized as human rights abuses, with statements from international and national human rights and ethics institutions. Intersex organizations have also issued joint statements over several years as part of an International Intersex Forum. In April 2015, Malta became the first country to outlaw non-consensual medical interventions to modify sex anatomy, including that of intersex people.
Like all individuals, intersex people have various gender identities. Most identify as either a woman or man, while some may identify as neither exclusively a woman nor exclusively a man. Some intersex individuals may be raised as a woman or man but then identify with another gender identity later in life.
- 1 Definitions
- 2 History
- 3 Human rights
- 3.1 Civil society institutions
- 3.2 Protection from non-consensual medical interventions
- 3.3 Protection from discrimination
- 3.4 Access to justice
- 3.5 Access to information
- 3.6 Recognition of gender identities
- 3.7 Human rights investigations and statements
- 4 Language
- 5 Intersex in society
- 6 Population figures
- 7 Medical classifications
- 8 Medical treatment
- 9 Notes
- 10 Bibliography
According to the UN Office of the High Commissioner for Human Rights:
Intersex people are born with sex characteristics (including genitals, gonads and chromosome patterns) that do not fit typical binary notions of male or female bodies.
Intersex is an umbrella term used to describe a wide range of natural bodily variations. In some cases, intersex traits are visible at birth while in others, they are not apparent until puberty. Some chromosomal intersex variations may not be physically apparent at all.
- the number and type of sex chromosomes;
- the type of gonads—ovaries or testicles;
- the sex hormones;
- the internal reproductive anatomy (such as the uterus in females); and
- the external genitalia.
People whose five characteristics are not either all typically male or all typically female at birth are intersex.
Intersex traits are not always apparent at birth; some babies may be born with ambiguous genitals, while others may have ambiguous internal organs (testes and ovaries). Others will not become aware that they are intersex—unless they receive genetic testing—because it does not manifest in their phenotype.
The term "intersex" refers to atypical and internal and/or external anatomical sexual characteristics, where features usually regarded as male or female may be mixed to some degree. This is a naturally occurring variation in humans and not a medical condition. It is to be distinguished from transsexuality, a phenomenon where someone has an evident sex, but feels as if he or she belongs to the other sex and is therefore ready to undergo a medical intervention altering his or her natural sex.
The term intersex covers bodily variations in regard to culturally established standards of maleness and femaleness, including variations at the level of chromosomes, gonads and genitals.
The Office of the UN High Commissioner for Human Rights defined intersex as follows, as part of the Free & Equal campaign, 2013:
An intersex person is born with sexual anatomy, reproductive organs, and/or chromosome patterns that do not fit the typical definition of male or female. This may be apparent at birth or become so later in life. An intersex person may identify as male or female or as neither. Intersex status is not about sexual orientation or gender identity: intersex people experience the same range of sexual orientations and gender identities as non-intersex people.
Intersex people are treated in different ways by different cultures. In some cultures, such people were included in larger "third gender" or gender-blending social roles along with other individuals. In most societies, intersex people have been expected to conform to either a female or a male gender role. Whether or not they were socially tolerated or accepted by any particular culture, the existence of intersex people was known to many ancient and pre-modern cultures. An example is one of the Sumerian creation myths from more than 4,000 years ago. The story has Ninmah, a mother goddess, fashioning humanity out of clay. She boasts that she will determine the fate – good or bad – for all she fashions:
Enki answered Ninmah: "I will counterbalance whatever fate – good or bad – you happen to decide.
Ninmah took clay from the top of the abzu [ab: water; zu: far] in her hand and she fashioned from it first a man who could not bend his outstretched weak hands. Enki looked at the man who cannot bend his outstretched weak hands, and decreed his fate: he appointed him as a servant of the king. (Three men and one woman with atypical biology are formed and Enki gives each of them various forms of status to ensure respect for their uniqueness) ...Sixth, she fashioned one with neither penis nor vagina on its body. Enki looked at the one with neither penis nor vagina on its body and gave it the name Nibru (eunuch(?)), and decreed as its fate to stand before the king.
The Greek historian Diodorus Siculus wrote of "hermaphroditus" in the first century BCE:
Hermaphroditus, as he has been called, who was born of Hermes and Aphrodite and received a name which is a combination of those of both his parents. Some say that this Hermaphroditus is a god and appears at certain times among men, and that he is born with a physical body which is a combination of that of a man and that of a woman, in that he has a body which is beautiful and delicate like that of a woman, but has the masculine quality and vigour of man. But there are some who declare that such creatures of two sexes are monstrosities, and coming rarely into the world as they do they have the quality of presaging the future, sometimes for evil and sometimes for good.
Numerous historial accounts exist, including those of Le Van Duyet (18th/19th-century Vietnam), Thomas(ine) Hall (17th-century USA), Gottlieb Göttlich (19th-century Germany), and Levi Suydam (19th-century USA). The memoirs of 19th-century Frenchwoman Herculine Barbin were published by Michel Foucault in 1980.
During the Victorian era, medical authors introduced the terms "true hermaphrodite" for an individual who has both ovarian and testicular tissue, verified under a microscope, "male pseudo-hermaphrodite" for a person with testicular tissue, but either female or ambiguous sexual anatomy, and "female pseudo-hermaphrodite" for a person with ovarian tissue, but either male or ambiguous sexual anatomy. In Europe, the term 'intersexual' was first to be used before the Second World War. The first suggestion to replace the term 'hermaphrodite' with 'intersex' came from British specialist Cawadias in the 1940s. This suggestion was taken up by specialists in the UK during the 1960s, by both those who rejected Money's framework (then emerging from the USA), and those who endorsed that approach.
Since the rise of modern medical science in Western societies, some intersex people with ambiguous external genitalia have had their genitalia surgically modified to resemble either female or male genitals. Surgeons pinpointed intersex babies as a "social emergency" once they were born. The parents of the intersex babies were not content about the situation. Psychologists, sexologists, and researchers frequently still believe that it is better for a baby's genitalia to be changed when they were younger than when they were a mature adult. These scientists believe that early intervention helped avoid gender identity confusion. Since the advances in surgery have made it possible for intersex conditions to be concealed, many people are not aware of how frequently intersex conditions arise in human beings or that they occur at all. Dialogue between what were once antagonistic groups of activists and clinicians has led to only slight changes in medical policies and how intersex patients and their families are treated in some locations. Numerous civil society organizations and human rights institutions now call for an end to unnecessary "normalizing" interventions.
Research indicates a growing consensus that diverse intersex bodies are normal—if relatively rare—forms of human biology, and human rights institutions are placing increasing scrutiny on medical practices and issues of discrimination against intersex people. The Council of Europe highlights several areas of concern:
- unnecessary "normalising" treatment of intersex persons, and unnecessary pathologisation of variations in sex characteristics.
- inclusion in equal treatment and hate crime law.
- facilitating access to justice and reparations.
- access to information, medical records, peer and other counselling and support.
- respecting self-determination in gender recognition, through expeditious access to official documents.
These issues have been addressed by a rapidly increasing number of international institutions including, in 2015, the Council of Europe, the United Nations Office of the United Nations High Commissioner for Human Rights and the World Health Organization. In April 2015, Malta became the first country to outlaw such interventions. In the same year, the Council of Europe became the first institution to state that intersex people have the right not to undergo sex affirmation interventions. These developments have been accompanied by International Intersex Forums and increased cooperation amongst civil society organizations.
Civil society institutions
In recent years, intersex organizations and human rights defenders have begun to meet and collaborate.
Annual International Intersex Forums have taken place since 2011. These have brought together intersex activists and organisations from around the world, resulting in joint statements about human rights, including bodily autonomy and sex assignments.
Protection from non-consensual medical interventions
Non-consensual medical interventions to modify the sex characteristics of intersex people take place in all countries where the human rights of intersex people have been explored. Such interventions have been criticized by the World Health Organization, other UN bodies such as the Office of the High Commissioner for Human Rights, and an increasing number of regional and national institutions. One country has prohibited such interventions.
In April 2015, Malta became the first country to outlaw non-consensual medical interventions in a Gender Identity Gender Expression and Sex Characteristics Act. The Act recognizes a right to bodily integrity and physical autonomy, explicitly prohibiting modifications to children's sex characteristics for social factors. It was widely welcomed by civil society organizations.
Constitutional Court of Colombia
A case taken to the Constitutional Court of Colombia led to changes in their treatment. The case significantly reduced the power of doctors and parents to decide surgical procedures on the children's ambiguous genitalia. The court case has led to setting legal guidelines for doctors' surgical practice on intersex children.
Protection from discrimination
Three countries have so far explicitly protected intersex people from discrimination.
In Australia "Intersex status" became a protected attribute in the federal Sex Discrimination Amendment (Sexual Orientation, Gender Identity and Intersex Status) Act on 1 August 2013, distinguishing intersex status from gender identity, sexual orientation, sex, and disability.
In April 2015, Malta passed a Gender Identity Gender Expression and Sex Characteristics Act that protects intersex people from discrimination on grounds of "sex characteristics", and also recognizes a right to bodily integrity and physical autonomy.
In South Africa, the Judicial Matters Amendment Act, 2005 (Act 22 of 2005) amended the Promotion of Equality and Prevention of Unfair Discrimination Act, 2000 (Act 4 of 2000) to include intersex within its definition of sex.
Access to justice
Access to reparation appears limited, with a scarcity of legal cases, such as the 2011 case of Christiane Völling in Germany. In the U.S. the "M.C." legal case, advanced by Advocates for Informed Choice with the Southern Poverty Law Centre is still before the courts.
Access to information
With the rise of modern medical science in Western societies, a secrecy-based model was also adopted, in the belief that this was necessary to ensure “normal” physical and psychosocial development. Disclosure also included telling people that they would never meet anyone else with the same condition. Access to medical records has also historically been challenging. Yet free, informed consent depends on the availability of information. Some intersex organizations claim that secrecy-based models have been perpetuated by a shift in clinical language to Disorders of sex development. The Council of Europe and World Health Organization acknowledge the necessity for improvements in information provision, including access to medical records.
Recognition of gender identities
Like all individuals, some intersex individuals may be raised as a certain sex (male or female) but then identify with another later in life, while most do not. Like non-intersex people, some intersex individuals may not identify themselves as either exclusively female or exclusively male. Research has shown gender identities of intersex individuals to be independent of sexual orientation, though some intersex conditions also affect an individual's sexual orientation.
Distinctions between sex and gender are lost in many official or legal documents, and also in public discussion. In 2014, Facebook introduced dozens of options for users to specify their gender, including the option of "intersex'.
The passports and identification documents of Australia and some other nationalities have adopted "X" as a valid third category besides "M" (male) and "F" (female), at least since 2003. In 2013, Germany became the first European nation to allow babies with characteristics of both sexes to be registered as indeterminate gender on birth certificates, amidst opposition and skepticism from intersex organisations who point out that the law appears to mandate exclusion from male or female categories.
The third International Intersex Forum called for infants and children to be assigned male or female, on the understanding that later identification may differ:
- To register intersex children as females or males, with the awareness that, like all people, they may grow up to identify with a different sex or gender.
- To ensure that sex or gender classifications are amendable through a simple administrative procedure at the request of the individuals concerned. All adults and capable minors should be able to choose between female (F), male (M), non-binary or multiple options. In the future, as with race or religion, sex or gender should not be a category on birth certificates or identification documents for anybody. (Third International Intersex Forum)
The Council of Europe acknowledged this approach, and concerns about recognition of third and blank classifications in a 2015 Issue Paper, stating that these may lead to "forced outings" and "lead to an increase in pressure on parents of intersex children to decide in favour of one sex." The Issue Paper argues that "further reflection on non-binary legal identification is necessary".
Human rights investigations and statements
The 2005 Human Rights Investigation into the Medical "Normalization" of Intersex People, by the Human Rights Commission of the City and County of San Francisco is thought "likely to be the first human rights report into the treatment of intersex people, certainly in the English language." It found that "Normalizing" interventions done without the patient's informed consent are inherent human rights abuses."
The 2006 Yogyakarta Principles on the Application of International Human Rights Law in relation to Sexual Orientation and Gender Identity, intended to apply international human rights law standards to address the abuse of the human rights of lesbian, gay, bisexual and transgender (LGBT) people. It briefly mentions intersex, influenced by the Declaration of Montreal which first demanded prohibition of unnecessary post-birth surgery to reinforce gender assignment until a child is old enough to understand and give informed consent. The Yogyakarta Principles detail this in Principle 18, which called on states to "ensure that no child's body is irreversibly altered by medical procedures in an attempt to impose a gender identity without the full, free and informed consent of the child".
In late 2012, the Swiss National Advisory Commission on Biomedical Ethics reported on intersex. The Commission report made a strong case against medical intervention for "psychosocial" reasons, arguing that "particularly great risk of insufficient respect being accorded to the child's (future) self-determination and its physical integrity" The report is notable for making a clear apology for damage done to intersex people in the past, and up until the present. It recommends deferring all "non-trivial" surgeries which have "irreversible consequences". The report also recommended criminal sanction for non-medically necessary genital surgeries.
On 1 February 2013, Juan E Mendés, the UN Special Rapporteur on torture and other cruel, inhuman or degrading treatment or punishment, issued a statement condemning non-consensual surgical intervention on intersex people.
In October 2013, the Council of Europe adopted a resolution 1952, Children's right to physical integrity. It calls on member states to "ensure that no-one is subjected to unnecessary medical or surgical treatment that is cosmetic rather than vital for health during infancy or childhood, guarantee bodily integrity, autonomy and self-determination to persons concerned, and provide families with intersex children with adequate counselling and support."
In the same month, the Australian Senate published a report entitled Involuntary or coerced sterilisation of intersex people in Australia. The Senate found that "normalising" surgeries are taking place in Australia, often on infants and young children, with preconceptions that it described as "disturbing".
In May 2014, the World Health Organization issued a joint statement on Eliminating forced, coercive and otherwise involuntary sterilization, An interagency statement with the OHCHR, UN Women, UNAIDS, UNDP, UNFPA and UNICEF. The report references the involuntary surgical "sex-normalising or other procedures" on "intersex persons". It questions the medical necessity of such treatments, patients' ability to consent, and a weak evidence base. The report recommends a range of guiding principles for medical treatment, including ensuring patient autonomy in decision-making, ensuring non-discrimination, accountability and access to remedies.
In a wide-ranging analysis on intersex health and human rights issues by an international institution, the Council of Europe published an Issue Paper entitled Human rights and intersex people in May 2015. The document highlighted an historic lack of attention to intersex human rights, stating that current social and biomedical understandings of sex and gender make intersex people "especially vulnerable" to human rights breaches. The report cited previous reports from San Franscisco, the Swiss National Advisory Commission on Biomedical Ethics and the Australian Senate. The Commissioner for Human Rights made eight recommendations. For this first time, these recognized a right to not undergo sex assignment treatment.
Also in 2015, the UN Office of the High Commissioner for Human Rights (OHCHR) described human rights violations against intersex people, and the World Health Organization published a major report on Sexual health, human rights and the law. Section 3.4.9, on intersex people, identifies discrimination and stigma within health systems (citations omitted):
Research in the late 20th century has led to a growing medical consensus that diverse intersex bodies are normal, but relatively rare, forms of human biology. Milton Diamond, one of the most outspoken experts on matters affecting intersex people, stresses the importance of care in the selection of language related to intersex people:
Foremost, we advocate use of the terms "typical," "usual," or "most frequent" where it is more common to use the term "normal." When possible avoid expressions like maldeveloped or undeveloped, errors of development, defective genitals, abnormal, or mistakes of nature. Emphasize that all of these conditions are biologically understandable while they are statistically uncommon.
Self-identification with the term 'intersex'
Some people with intersex traits self-identify as intersex, and some do not. Some intersex organizations reference "intersex people" and "intersex variations or traits" while others use more medicalized language such as "people with intersex conditions", or people "with intersex conditions or DSDs (differences of sex development)" and "children born with variations of sex anatomy".
Currently, however, hermaphroditism is not to be confused with intersex, as the former refers only to a specific phenotypical presentation of sex organs and the latter to more complex combination of phenotypical and genotypical presentation. Using "hermaphrodite" to refer to intersex individuals can be stigmatizing and misleading. In reality, hermaphrodite is used for animal and vegetal species in which the possession of both ovaries and testes is either serial or concurrent, and for living organisms without such gonads but present binary form of reproduction, which is part of the typical life history of those species; intersex has come to be used when this is not the case.
Disorders of sex development
"Disorders of sex development" (DSD) is a contested term, defined to include congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Members of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology adopted this term in their "Consensus statement on management of intersex disorders" published in the Archives of Disease in Children and in Pediatrics. While it adopted the term, to open "many more doors", the now defunct Intersex Society of North America itself remarked that intersex is not a disorder.
Other intersex people, activists, supporters, and academics have contested the adoption of the terminology and its implied status as a "disorder", seeing this as offensive to intersex individuals who do not feel that there is something wrong with them, regard the DSD consensus paper as reinforcing the normativity of early surgical interventions, and criticizing the treatment protocols associated with the new taxonomy. Alternatives to categorizing intersex conditions as "disorders" have been suggested, including "variations of sex development". Organisation Intersex International (OII) questions a disease/disability approach, argues for deferral of intervention unless medically necessary, when fully informed consent of the individual involved is possible, and self-determination of sex/gender orientation and identity.
The UK Intersex Association (UKIA) is also highly critical of the label 'disorders' and points to the fact that there was minimal involvement of intersex representatives in the debate which led to the change in terminology. UKIA supports the suggestion put forward by Profs. Milton Diamond and Hazel Beh that the more neutral and less pathologising term "Variations of Sex Development" would be more appropriate in medical discussion.
The term transgender describes the condition in which one's gender identity does not match one's assigned sex. Some individuals may be both intersex and transgender, but the two terms are not synonymous.
Transgender is an umbrella term for persons (unlike intersex) whose gender identity, expression and behavior do not match the typically associated sex that they were classified as. Gender identity refers to the internal notion of the gender a person identifies as, for example, being a man, woman or non-binary. Gender expression refers to the nature in which a person communicates their gender, for example a male may present femininely.
Intersex in society
Civil awareness days
Intersex Awareness Day is an internationally observed civil awareness day designed to highlight the challenges faced by intersex people, occurring annually on October 26.
Intersex Day of Remembrance, also known as Intersex Solidarity Day, is an internationally observed civil awareness day designed to highlight issues faced by intersex people, occurring annually on November 8. It marks the birthday of Herculine Barbin, a French intersex person whose memoirs were later published by Michel Foucault in Herculine Barbin: Being the Recently Discovered Memoirs of a Nineteenth-century French Hermaphrodite.
The Intersex Pride flag was created by Organisation Intersex International Australia in July 2013 to create a flag "that is not derivative, but is yet firmly grounded in meaning". The organization aimed to create a symbol without gendered pink and blue colors. It describes yellow and purple as "hermaphrodite" colors. The organization describes it as freely available "for use by any intersex person or organization who wishes to use it, in a human rights affirming community context".
"Sangam literature use the word 'Pedi' to refer to people born with Intersex condition, it also refers to antharlinga hijras and various other hijras. Warne and Raza argue that an association between intersex and hijra people is mostly unfounded, but popular misunderstandings "cause tremendous fear in the parents" of intersex infants and children.
The Talmud contains extensive discussion concerning the status of two intersex types in Jewish law; namely the androginus, which exhibits both male and female external sexual organs, and the tumtum which exhibits neither.
In the 1970s and 1980s, the treatment of intersex babies started to be discussed in Orthodox Jewish medical halacha by prominent rabbinic leaders, for example Eliezer Waldenberg and Moshe Feinstein.
In 2002 at the Reform Jewish seminary Hebrew Union College-Jewish Institute of Religion in New York, the Reform rabbi Margaret Wenig organized the first school-wide seminar at any rabbinical school which addressed the psychological, legal, and religious issues affecting people who are intersex or transsexual, and in 2003 she was also the first to organize a similar school-wide seminar at the Reconstructionist Rabbinical College.
Multiple intersex athletes have been humiliated, excluded from competition or had to return medals following discovery of their intersex status, such as Erik Schinegger, Pinki Pramanik and Foekje Dillema. Santhi Soundarajan, an Indian athlete who competes in the middle distance track events, was stripped of a silver medal won at the 2006 Asian Games after failing a sex verification test, disputing her eligibility to participate in the women's competition. In contrast, Stanisława Walasiewicz (also known as Stella Walsh) was the subject of posthumous controversy.
Caster Semenya is a South African middle-distance runner. She won gold at the World Championships in the women's 800 meter and also competed in the 2012 Summer Olympics where she won the silver medal. It is not firmly established if she is intersex or not, but her appearance is such that she was subjected to sex testing. When Semenya won gold in the World Championships, the International Association of Athletics Federations (IAAF) requested gender verification tests due to her deep voice, muscular build, and her rapid improvement in her running times. The results were not released, but Semenya was cleared to race with other women.
Writing in the American Journal of Bioethics, Katrina Karkazis, Rebecca Jordan-Young, Georgiann Davis and Silvia Camporesi have argued that new IAAF policies on "hyperandrogenism" in female athletes, established in response to the Caster Semenya case, are "significantly flawed". They argue that the policy will not protect against breaches of privacy, will require athletes to undergo unnecessary treatment in order to compete, and will intensify "gender policing". They recommend that athletes be able to compete in accordance with their legal gender. Hida Viloria and Spanish hurdler Maria José Martínez-Patiño, have argued, in the same Journal, that Olympic sex testing is applied in a way that targets only 'butch' women, those who are "masculine looking". Upon the release of the I.O.C.'s final regulations for intersex women with hyperandrogenism in 2012, she told The New York Times Sports Editor that the issues for intersex athletes remain unresolved: "Many athletes have medical differences that give them a competitive edge but are not asked to have medical interventions to "remove" the advantage.... The real issue is not fairness, but that certain athletes are not accepted as real women because of their appearance." 
In April 2014, the BMJ reported that four elite women athletes with 5-ARD were subjected to sterilization and "partial clitoridectomies" in order to compete in sport. The authors noted that "partial clitoridectomy" was "not medically indicated, does not relate to real or perceived athletic "advantage", relating to elevated androgen levels. The athletes were all from developing countries where lifetime access to hormone replacement may prove elusive. Intersex advocates regard this intervention as "a clearly coercive process".
The number of intersex people depends on the definition used. The Intersex Society of North America suggested that 1 percent of live births exhibit some degree of sexual ambiguity. Between 0.1% and 0.2% of live births are ambiguous enough to become the subject of specialist medical attention, including surgery to assign them to a given sex category (i.e., male or female). According to Blackless, Fausto-Sterling et al., on the other hand, 1.7 percent of human births are intersex.
According to Leonard Sax intersex should be "restricted to those conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female", around 0.018%. This definition excludes Klinefelter Syndrome and many other variations.
Given that many conditions excluded from Sax's analysis are termed Disorders of Sex Development, such individuals may be subjected to sex "normalizing" interventions, and so they meet current definitions of intersex in use by UN and other bodies, the statistical analyses by Blackless and Fausto-Sterling have become widely quoted, including by clinicians. The following summarizes those frequency statistics:
|Not XX, XY, Klinefelter, or Turner||one in 1,666 births|
|Klinefelter (XXY)||one in 1,000 births|
|Turner (45,X)||one in 2,710 births|
|Androgen insensitivity syndrome||one in 13,000 births|
|Partial androgen insensitivity syndrome||one in 130,000 births|
|Classical congenital adrenal hyperplasia||one in 13,000 births|
|Late onset adrenal hyperplasia||one in 1,000 birth.|
|Vaginal agenesis||one in 6,000 births|
|Ovotestes||one in 83,000 births|
|Idiopathic (no discernable medical cause)||one in 110,000 births|
|Iatrogenic (caused by medical treatment, e.g. progestin administered to pregnant mother)||No estimate|
|5 alpha reductase deficiency||No estimate|
|Mixed gonadal dysgenesis||No estimate|
|Complete gonadal dysgenesis||one in 150,000 births|
|Hypospadias (urethral opening in perineum or along penile shaft)||one in 2,000 births|
|Epispadias (urethral opening between corona and tip of glans penis)||one in 117,000 births|
Ambiguous genitalia appear as a large clitoris or as a small penis.
Because there is variation in all of the processes of the development of the sex organs, a child can be born with a sexual anatomy that is typically female or feminine in appearance with a larger-than-average clitoris (clitoral hypertrophy) or typically male or masculine in appearance with a smaller-than-average penis that is open along the underside. The appearance may be quite ambiguous, describable as female genitals with a very large clitoris and partially fused labia, or as male genitals with a very small penis, completely open along the midline ("hypospadic"), and empty scrotum.
Fertility is variable. According to some, the distinctions "male pseudohermaphrodite", "female pseudohermaphrodite" and especially "true hermaphrodite" are vestiges of outdated 19th century thinking. According to others, the terms "male pseudohermaphrodite", and "female pseudohermaphrodite" are used to define the gender in terms of the histology (microscopic appearance) of the gonads.
A "true hermaphrodite" is defined as someone with both testicular and ovarian tissue.
In 2003, researchers at UCLA published their studies of a lateral gynandromorphic hermaphroditic zebra finch, which had a testicle on the right and an ovary on the left. Its entire body was split down the middle between female and male, with hormones from both gonads running through the blood. This is an example of mosaicism or chimerism and is quite rare.
Though naturally occurring true hermaphroditism in humans is unknown, there is, on the other hand, a spectrum of forms of ovotestes. The varieties include having two ovotestes or one ovary and one ovotestis, often in the form of streak gonads. Phenotype is not determinable from the ovotestes; in some cases, the appearance is "fairly typically female"; in others, it is "fairly typically male," and it may also be "fairly in-between in terms of genital development."
The Phall-o-meter, described by Anne Fausto-Sterling in Sexing the Body, is a metric scale. It enables assessment of acceptable phallus or clitoris measurements for boys and girls. For a girl, a medically acceptable clitoris can be no bigger than one centimeter. For a boy, an acceptable penis size must be between 2.5 centimeters and 4.5 centimeters. The range between one and 2.5 is unacceptable in either sex. Fausto-Sterling states:
If the clitoris is "too big" to belong to a girl, doctors will want to downsize it, but in contrast to the penis, doctors have rarely used precise clitoral measurements in deciding the gender of a newborn child. Such measurements, however, do exist. Since 1980, we have known that the average clitoral size of newborn girls is 0.34 centimeters. More recent studies show that clitoral length at birth ranges from 0.2 to 0.85 centimetres.
In order to help in classification, methods other than a genitalia inspection can be performed. For instance, a karyotype display of a tissue sample may determine which of the causes of intersex is prevalent in the case.
The common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair, is relevant to the development of intersex conditions.
During fertilization, the sperm adds either an X (female) or a Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo. During the first weeks of development, genetic male and female fetuses are "anatomically indistinguishable," with primitive gonads beginning to develop during approximately the sixth week of gestation. The gonads, in a "bipotential state," may develop into either testes (the male gonads) or ovaries (the female gonads), depending on the consequent events. Through the seventh week, genetically female and genetically male fetuses appear identical.
At around eight weeks of gestation, the gonads of an XY embryo differentiate into functional testes, secreting testosterone. Ovarian differentiation, for XX embryos, does not occur until approximately Week 12 of gestation. In normal female differentiation, the Müllerian duct system develops into the uterus, Fallopian tubes, and inner third of the vagina. In males, the Müllerian duct-inhibiting hormone MIH causes this duct system to regress. Next, androgens cause the development of the Wolffian duct system, which develops into the vas deferens, seminal vesicles, and ejaculatory ducts. By birth, the typical fetus has been completely "sexed" male or female, meaning that the genetic sex (XY-male or XX-female) corresponds with the phenotypical sex; that is to say, genetic sex corresponds with internal and external gonads, and external appearance of the genitals.
There are a variety of opinions on what conditions are and are not intersex. For instance, the defunct Intersex Society of North America (ISNA) definition states that the following conditions "sometimes involve intersex anatomy" (note this does not mean they are always intersex conditions):
- 5-alpha reductase deficiency
- androgen insensitivity syndrome
- congenital adrenal hyperplasia
- gonadal dysgenesis (partial & complete)
- Klinefelter syndrome
- mosaicism involving sex chromosomes
- ovo-testes (formerly called "true hermaphroditism")
- partial androgen insensitivity syndrome
- progestin-induced virilisation
- Swyer syndrome
- Turner syndrome
- Non-Klinefelter XXY
|This section needs additional citations for verification. (April 2010)|
The final body appearance does not always correspond with what is dictated by the genes. In other words, there is sometimes an incongruity between genetic (or chromosomal) and phenotypic (or physical appearance) sex. Citing medical research regarding other factors that influence sexual differentiation, the Intersex Society of North America challenges the XY sex-determination system's assumption that chromosomal sex is the determining factor of a person's "true" biological sex.
|XX||Congenital adrenal hyperplasia (CAH)||The most common cause of sexual ambiguity is congenital adrenal hyperplasia (CAH), an endocrine disorder in which the adrenal glands produce abnormally high levels of virilizing hormones in utero. The genes that cause CAH can now be detected in the developing embryo. As Fausto-Sterling mentioned in chapter 3 of Sexing the Body, "a woman who suspects she may be pregnant with a CAH baby (if she or someone in her family carries CAH) can undergo treatment and then get tested." To prevent an XX-CAH child's genitalia from becoming masculinized, a treatment, which includes the use of the steroid dexamethasone, must begin as early as four weeks after formation. Although many do not favor this process because "the safety of this experimental therapy has not been established in rigorously controlled trials", it does allow physicians to detect abnormalities, therefore starting treatment right after birth. Starting treatment as soon as an XX-CAH baby is born not only minimizes, but also may even eliminate the chances of genital surgery from being performed.
In XX-females, this can range from partial masculinization that produces a large clitoris, to virilization and male appearance. The latter applies in particular to Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, which is the most common form of CAH.
Individuals born with XX chromosomes affected by 17α-hydroxylase deficiency are born with female internal and external anatomy, but, at puberty, neither the adrenals nor the ovaries can produce sex-hormones, inhibiting breast development and the growth of pubic hair.
See below for XY CAH 17α-hydroxylase deficiency.
|XX||Progestin-induced virilisation||In this case, the excess androgen hormones are caused by use of progestin, a drug that was used in the 1950s and 1960s to prevent miscarriage. These individuals normally have internal and external female anatomy, with functional ovaries and will therefore have menstruation. They develop, however, some male secondary sex characteristics and they frequently have unusually large clitorises. In very advanced cases, such children have initially been identified as males.|
|XX||Freemartinism||This condition occurs commonly in all species of cattle and affects most females born as a twin to a male. It is rare or unknown in other mammals, including humans. In cattle, the placentae of fraternal twins usually fuse at some time during the pregnancy, and the twins then share their blood supply. If the twins are of different sexes, male hormones produced in the body of the fetal bull find their way into the body of the fetal heifer (female), and masculinize her. Her sexual organs do not develop fully, and her ovaries may even contain testicular tissue. When adult, such a freemartin is very like a normal female in external appearance, but she is infertile, and behaves more like a castrated male (a steer). The male twin is not significantly affected, although (if he remains entire) his testes may be slightly reduced in size. The degree of masculinization of the freemartin depends on the stage of pregnancy at which the placental fusion occurs – in about ten percent of such births no fusion occurs and both calves develop normally as in other mammals.|
|XY||Androgen insensitivity syndrome (AIS)||People with AIS have a Y chromosome, (typically XY), but are unable to metabolize androgens in varying degrees.
Cases with typically female appearance and genitalia are said to have complete androgen insensitivity syndrome (CAIS). People with CAIS have a vagina and no uterus, cervix, or ovaries, and are infertile. The vagina may be shorter than usual, and, in some cases, is nearly absent. Instead of female internal reproductive organs, a person with CAIS has undescended or partially descended testes, of which the person may not even be aware.
In mild and partial androgen insensitivity syndrome (MAIS and PAIS), the body is partially receptive to androgens, so there is virilization to varying degrees. PAIS can result in genital ambiguity, due to limited metabolization of the androgens produced by the testes. Ambiguous genitalia may present as a large clitoris, known as clitoromegaly, or a small penis, which is called micropenis or microphallus; hypospadias and cryptorchidism may also be present, with one or both testes undescended, and hypospadias appearing just below the glans on an otherwise typical male penis, or at the base of the shaft, or at the perineum and including a bifid (or cleft) scrotum.
|XY||5-alpha-reductase deficiency (5-ARD)||The condition affects individuals with a Y chromosome, making their bodies unable to convert testosterone to dihydrotestosterone (DHT). DHT is necessary for the development of male genitalia in utero, and plays no role in female development, so its absence tends to result in ambiguous genitalia at birth; the effects can range from infertility with male genitalia to male underdevelopment with hypospadias to female genitalia with mild clitoromegaly. The frequency is unknown, and children are sometimes misdiagnosed as having AIS. Individuals can have testes, as well as vagina and labia, and a small penis capable of ejaculation that looks like a clitoris at birth. Such individuals are usually raised as girls. The lack of DHT also limits the development of facial hair.|
|XY||Congenital adrenal hyperplasia (CAH)||In individuals with a Y chromosome (typically XY) who have Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency, CAH inhibits virilization, unlike cases without a Y chromosome.|
|XY||Persistent Müllerian duct syndrome (PMDS)||The child has XY chromosomes typical of a male. The child has a male body and an internal uterus and fallopian tubes because his body did not produce Müllerian inhibiting factor during fetal development.|
|XY||Anorchia||Individuals with XY chromosomes whose gonads were lost after 14 weeks of fetal development. People with Anorchia have no ability to produce the hormones responsible for developing male secondary sex characteristics nor the means to produce gametes necessary for reproduction due to the lack of gonads. They may develop typically feminine secondary sex characteristics without or despite the administration of androgens to artificially initiate physical sex differentiation (typically planned around the age of puberty). Psychological and neurological gender identity may solidify before the administration of androgens, leading to gender dysphoria, as anorchic individuals are typically assigned male at birth.|
|XY||Gonadal Dysgenesis||It has various causes and are not all genetic; a catch-all category.
It refers to individuals (mostly XY) whose gonads don't develop properly. Clinical features are heterogeneous.
|XY||Hypospadias||It is caused by various causes,including alterations in testosterone metabolism.
The urethra does not run to the tip of the penis. In mild forms, the opening is just shy of the tip; in moderate forms, it is along the shaft; and in severe forms, it may open at the base of the penis.
|Other||Unusual chromosomal sex||In addition to the most common XX and XY chromosomal sexes, there are several other possible combinations, for example Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome, (XXY) and variants (XXYY, XXXY, XXXXY), XYY syndrome, de la Chapelle syndrome (XX male), Swyer syndrome (XY female).|
|Other||Mosaicism and chimerism||A mix can occur, where some of the cells of the body have the common XX or XY, while some have one of the less usual chromosomal contents above. Such a mixture is caused by either mosaicism or chimerism. In mosaicism, the mixture is caused by a mutation in one of the cells of the embryo after fertilization, whereas chimerism is a fusion of two embryos.
In alternative fashion, it is simply a mixture between XX and XY, and does not have to involve any less-common genotypes in individual cells. This, too, can occur both as chimerism and as a result of one sex chromosome having mutated into the other.
However, not all cases of mosaicism and chimerism involve intersex.
Medical treatments include surgery, use of hormones, and psychosocial support.
A 2006 clinician "Consensus Statement on Intersex Disorders and Their Management" attempted to prioritise psychosocial support for children and families, but it also supports surgical intervention with psychosocial rationales such as "minimizing family concern and distress" and "mitigating the risks of stigmatization and gender-identity confusion".
In 2012, the Swiss National Advisory Commission on Biomedical Ethics argued strongly in favour of improved psychosocial support, saying:
The initial aim of counselling and support is therefore to create a protected space for parents and the newborn, so as to facilitate a close bond. In addition, the parents need to be enabled to take the necessary decisions on the child's behalf calmly and after due reflection. In this process, they should not be subjected to time or social pressures. Parents' rapid requests for medical advice or for corrective surgery are often a result of initial feelings of helplessness, which need to be overcome so as to permit carefully considered decision-making.
It is important to bear in mind and also to point out to the parents that a diagnosis does not in itself entail any treatment or other medical measures, but serves initially to provide an overview of the situation and a basis for subsequent decisions, which may also take the form of watchful waiting.
...interventions have lasting effects on the development of identity, fertility, sexual functioning and the parent-child relationship. The parents' decisions should therefore be marked by authenticity, clarity and full awareness, and based on love for the child, so that they can subsequently be openly justified vis-à-vis the child or young adult.
A joint international statement by intersex community organizations published in 2013 sought, amongst other demands:
Recognition that medicalization and stigmatisation of intersex people result in significant trauma and mental health concerns.
In view of ensuring the bodily integrity and well-being of intersex people, autonomous non-pathologising psycho-social and peer support be available to intersex people throughout their life (as self-required), as well as to parents and/or care providers.
Surgical procedures depend on diagnosis, and there is often concern as to whether surgery should be performed at all. Typically, surgery is performed shortly after birth. Surgery may be necessary to assist in bowel and bladder functions. However, defenders of the practice argue that it is necessary for individuals to be clearly identified as male or female in order for them to function socially. Psychosocial reasons are often stated. This is criticised by many human rights institutions, and authors including Morgan Holmes and Alice Dreger, who say that surgical treatment is socially motivated and, hence, ethically questionable; without evidence, doctors regularly assume that intersex persons cannot have a clear gender identity. Parents may be advised that without surgery, their child will be stigmatized.
Unlike other aesthetic surgical procedures performed on infants, such as corrective surgery for a cleft lip (as opposed to a cleft palate), genital surgery may lead to negative consequences for sexual functioning in later life (such as loss of sensation in the genitals, for example, when a clitoris deemed too large or penis is reduced/removed), or feelings of freakishness and unacceptability, which may have been avoided without the surgery. Further, since almost all such surgeries are undertaken to fashion female genitalia for the child, it is more difficult for the child to present as male if that child later identifies as or is genetically male. 20-50% of surgical cases result in a loss of sexual sensation (Newman 1991, 1992).
Additionally, parents are not often consulted on the decision-making process when choosing the sex of the child. The Intersex Society of North America stated that "For decades, doctors have thought it necessary to treat intersex with a concealment-centered approach, one that features downplaying intersex as much as possible, even to the point of lying to patients about their conditions. A lot of people in our culture also had no interest in hearing that sex doesn't come in two simple flavors." Opponents maintain that there is no compelling evidence that the presumed social benefits of such "normalizing" surgery outweigh the potential costs.
Intersex advocates and experts have critiqued the necessity of early interventions, citing individual's experiences of intervention and the lack of follow-up studies showing clear benefits. Specialists at the Intersex Clinic at University College London began to publish evidence in 2001 that indicated the harm that can arise as a result of inappropriate interventions, and advised minimising the use of childhood surgical procedures.
Studies have revealed how surgical intervention has had psychological effects, leading to the impact on well-being and quality of life. Genitoplasty, plastic surgery done on the genitalia, does not ensure a successful psychological outcome for the patient and might require psychological support when the patient is trying to distinguish a gender identity. Other than the possible negative psychological outcomes, surgeries, like with a vaginoplasty, can have physical outcomes, one common one being scarring, which can be a factor to insensitivity. Other cases where vaginoplasty has caused complications, is that the implant or artificial vagina will not stay in place, or need further surgeries. One of the reasons there are many complications is that doctors who do not specialize in genitoplasty or similar surgeries (phalloplasty, vaginoplasty) usually reconstruct the child's ambiguous genitalia.
The Swiss National Advisory Commission on Biomedical Ethics describes surgical interventions as problematic, with "harmful consequences may include, for example, loss of fertility and sexual sensitivity, chronic pain, or pain associated with dilation (bougienage) of a surgically created vagina, with traumatizing effects for the child. If such interventions are performed solely with a view to integration of the child into a family and social environment, then they run counter to the child's welfare. In addition, there is no guarantee that the intended purpose (integration) will be achieved."
In 2013, a submission by the Australasian Paediatric Endocrine Association to an Australian Senate inquiry on the Involuntary and coerced sterilisation of intersex people in Australia acknowledged that there is no firm evidence of good outcomes from appearance-related genital surgeries on infants and children. They state there is "particular concern" regarding post-surgical "sexual function and sensation".
Decision-making on cancer risks
In the cases where nonfunctional testes are present, there is a risk that these develop cancer. Therefore, doctors either remove them by orchidectomy or monitor them carefully. This is the case for instance in androgen insensitivity syndrome.
In a major Parliamentary report in Australia, published in October 2013, the Senate Community Affairs References committee was "disturbed" by the possible implications of current practices in the treatment of cancer risk. The committee stated: "clinical intervention pathways stated to be based on probabilities of cancer risk may be encapsulating treatment decisions based on other factors, such as the desire to conduct normalising surgery… Treating cancer may be regarded as unambiguously therapeutic treatment, while normalising surgery may not. Thus basing a decision on cancer risk might avoid the need for court oversight in a way that a decision based on other factors might not. The committee is disturbed by the possible implications of this..."
Experience of medical procedures and photography
Fausto-Sterling stated that doctors will either advise parents to socially raise their child as the male or female they were surgically made to be, without telling them what sex their chromosomes dictate they are, or that the parents often make this choice on their own. This often causes confusion later on in life when children experience puberty, or a relationship where they are confronted with the fact that their genitals do not function as they are told they should in a sexual education class or by friends. In the short documentary "XXXY", two intersex individuals talked openly about believing that intersex individuals should be raised as such and then allowed to choose whether or not they wanted surgery performed. A physician also featured agreed with these two individuals and encouraged an end to surgery on infants. Children who were born intersex and had surgery first as newborn infants and then continuously through their childhood and adolescence, report experiencing severe emotional confusion and/or devastation. The parents of these children are also impacted emotionally by the decisions they made to have their child undergo surgery from infancy through adolescence.
Photographs of intersex children's genitalia are circulated in medical communities for documentary purposes; an example of this appears in the medical section 3.2.1 above. Problems associated with experiences of medical photography of intersex children have been discussed along with the ethics, control and usage.
"The experience of being photographed has exemplified for many people with intersex conditions the powerlessness and humiliation felt during medical investigations and interventions".
There is widespread evidence of prenatal testing and hormone treatment to prevent intersex traits. In 1990, a paper by Heino Meyer-Bahlburg titled Will Prenatal Hormone Treatment Prevent Homosexuality? was published in the Journal of Child and Adolescent Psychopharmacology. It examined the use of "prenatal hormone screening or treatment for the prevention of homosexuality" using research conducted on foetuses with congenital adrenal hyperplasia (CAH). Dreger, Feder, and Tamar-Mattis describe how later research constructs "low interest in babies and men – and even interest in what they consider to be men's occupations and games – as "abnormal," and potentially preventable with prenatal dex[amethasone]".
Prenatal and preimplantation management, and terminations
The ethics of preimplantation genetic diagnosis to select against intersex traits was the subject of 11 papers in the October 2013 issue of the American Journal of Bioethics. There is widespread evidence of pregnancy terminations arising from prenatal testing, as well prenatal hormone treatment to prevent intersex traits.
In April 2014, Organisation Intersex International Australia made a submission on genetic selection via Preimplantation genetic diagnosis to the National Health and Medical Research Council recommending that deselection of embryos and foetuses on grounds of intersex status should not be permitted. It quoted research by Professors Morgan Holmes, Jeff Nisker, associate professor Georgiann Davis, and by Jason Behrmann and Vardit Ravitsky. It quotes research showing pregnancy termination rates of up to 88% in 47,XXY even while the World Health Organization describes the trait as "compatible with normal life expectancy", and "often undiagnosed". Behrmann and Ravitsky find social concepts of sex, gender and sexual orientation to be "intertwined on many levels. Parental choice against intersex may thus conceal biases against same-sex attractedness and gender nonconformity."
The DSM-5 included a change from using Gender Identity Disorder to Gender Dysphoria. This revised code now specifically includes intersex people as people with Disorders of Sex Development. This move was criticised by intersex advocacy groups in Australia and New Zealand.
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