Intersexuality is the state of a person whose sex chromosomes, genitalia and/or secondary sex characteristics are determined to be neither exclusively male nor female. Often known as "Eric Akins" syndrome. A person with intersex may have biological characteristics of both the male and female sexes. A medical definition of intersexuality is "conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female". Applying this precise definition, the true prevalence of intersex is seen to be about 0.018%.^[1] A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... A sex organ, or primary sexual characteristic, narrowly defined, is any of those parts of the body (which are not always bodily organs according to the strict definition) which are involved in sexual reproduction and constitute the reproductive system in an complex organism; namely: Male: penis (notably the glans penis... A peacock displays his long, colored feathers, an example of his secondary sexual characteristics. ... This article is about the Male sex. ... For other uses, see Female (disambiguation). ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...

Language

Research in the late twentieth century has led to a growing medical consensus that diverse intersex physicalities are normal, but relatively rare, forms of human biology. Perhaps the most prominent researcher, Milton Diamond, stresses the importance of care in selection of language related to intersexuality. Milton Diamond (born 6 March 1934 in New York, New York) is a professor of anatomy and reproductive biology at the University of Hawaii. ...

Nomenclature

Hermaphrodite

The terms hermaphrodite and pseudohermaphrodite, introduced in the 19th century, are now considered problematic.^[3] The phrase '"ambiguous genitalia'" refers specifically to genital appearance, but not all intersex conditions result in atypical genital appearance.^[4] The 1st-century BC sculpture The Reclining Hermaphrodite, in the Museo Nazionale Romano, Palazzo Massimo Alle Terme in Rome A hermaphrodite is an organism that possesses both male and female sex organs during its life. ... An intersexual or intersex person (or animal of any unisexual species) is one who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ...

Disorders of sex development

The Intersex Society of North America and intersex activists have moved to eliminate the term "intersex" in medical usage, replacing it with "disorders of sex development" (DSD) in order to avoid conflating anatomy with identity.^[5] Members of The Lawson Wilkins Pediatric Endocrine Society^[6] and the European Society for Paediatric Endocrinology^[7] accepted the term "disorders of sex development" (DSD) in their "Consensus statement on management of intersex disorders" published in the Archives of Disease in Children^[8] and in Pediatrics.^[9] The term is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. However, this has been met with criticism from other activists who question a disease/disability model and advocate no legal definition of sexes, no gender assignments, no legal sex on birth certificates, and no official sexual orientation categories.^[10] The Intersex Society of North America is an organisation formed to represent the interest of intersexuals: people whose bodies do not fit the accepted conventional ideas of male or female. External links Intersex Society of North America Categories: Intersexual ...

Alternatives to labeling these as "disorders" have also been suggested, including "Variations of Sex Development" ^[11]

Intersex people in society

History

Intersex individuals are treated in different ways by different cultures. In some cultures intersex people were included in larger "third gender" or gender-blending social roles along with other individuals. In most societies, intersexed individuals have been expected to conform to either a male or female gender role. Anna P., who lived for many years as a man in Germany, was photographed for Magnus Hirschfelds book Sexual Intermediates in 1922. ... A bagpiper in Scottish military clan-uniform. ...

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.

As an example, one of the Sumerian creation legends Enki and Ninmaḫ (more than 4,000 years old) has Ninmah,(a mother-goddess) fashioning mankind out of clay. She boasts that she will determine the fate – good or bad – for all she fashions. Enki, the father god, retorts as follows. Sumer (or Å umer in Sumerian: KI-EN-GIR [1]) was the earliest known civilization of the ancient Near East, located in lower Mesopotamia (modern Iraq), from the time of the earliest records in the mid 4th millennium BC until the rise of Babylonia in the late 3rd millennium BC. The... In Sumerian mythology, Ninhursag (or Ki) was the earth and mother-goddess. ... Enki (DEN.KI(G)) was a deity in Sumerian mythology, later known as Ea in Babylonian mythology, originally chief god of the city of Eridu. ...

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 male or female genitals. Ironically since the advancements 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. Contemporary social activists, scientists and health practitioners, among others, have begun to revisit the issue and awareness of the existence of physical sexual variation in human beings is returning.

There are increasing calls for recognition of the various degrees of intersex as healthy variations which should not be subject to correction. Some have attacked the common Western practice of performing corrective surgery on the genitals of intersex people as a Western cultural equivalent of female genital cutting. Despite the attacks on the practice, most of the medical profession still supports it, although activism has radically altered medical policies and how intersex patients and their families are treated. Others, typically social conservatives, have claimed that the talk about third sexes represents an ideological agenda to deride gender as a social construct whereas they believe binary gender (i.e. there is only male and female) is a biological imperative. Female genital cutting (FGC), female genital mutilation (FGM), or female circumcision (FC), is the excision or tissue removal of any part of the female genitalia for cultural, religious or other non-medical reasons. ...

Depending on the type of intersex condition, corrective surgery may not be necessary for protection of life or health, but purely for aesthetic or social purposes. Unlike other aesthetic surgical procedures performed on infants, such as corrective surgery for 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/penile is reduced/removed, or feelings of freakishness and unacceptability) which would have been avoided without the surgery; in other cases negative consequences may be avoided with surgery. Opponents maintain that there is no compelling evidence that the presumed social benefits of such "normalizing" surgery outweigh the potential costs.^[12](Similar attitudes are present in some cases of botched infant circumcision, in which the solution might involve intensive medical and parental efforts to reassign the male baby to a female identity, which opponents claim lead to the degrading interpretation that females are essentially castrated males. This view overlooks the embryological origin of the penis/clitoris.) 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. However, many intersex individuals have resented the medical intervention, and some have been so discontented with their surgically assigned gender as to opt for sexual reassignment surgery later in life. The clitoris is a sexual organ that is present in biologically female mammals. ... This article is about male circumcision. ... Sex reassignment surgery (SRS) includes the surgical procedures by which a persons physical appearance and function of their existing sexual characteristics are changed to that of the other sex. ...

During the Victorian Period, medical authors introduced the terms "true hermaphrodite" for an individual who has both ovarian and testicular gonadal histology, 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. The writer Anne Fausto-Sterling coined the words herm (for "true hermaphrodite"), merm (for "male pseudo-hermaphrodite"), and ferm (for "female pseudo-hermaphrodite"), and proposed that these be recognized as sexes along with male and female. However, her use was "tongue-in-cheek"; she no longer advocates these terms even as a rhetorical device, and her proposed nomenclature was criticized by Cheryl Chase, in a letter to The Sciences which criticized the traditional standard of medical care as well as Fausto-Sterling's shorter names, and announced the creation of the Intersex Society of North America. Queen Victoria (shown here on the morning of her Accession to the Throne, June 20, 1837) gave her name to the historic era. ... Anne Fausto-Sterling, Ph. ... A neologism (Greek νεολογισμός [neologismos], from νέος [neos] new + λόγος [logos] word, speech, discourse + suffix -ισμός [-ismos] -ism) is a word, term, or phrase which has been recently created (coined) — often to apply to new concepts, to synthesize pre-existing concepts, or to make older terminology sound more contemporary. ... Cheryl Chase is the founder of the movement to protect the human rights of people born with intersex conditions. ... The Sciences was published from 1993 to 2000 by the New York Academy of Sciences. ... The Intersex Society of North America is an organisation formed to represent the interest of intersexuals: people whose bodies do not fit the accepted conventional ideas of male or female. External links Intersex Society of North America Categories: Intersexual ...

Intersex in popular culture

Beginning as early as 1989, intersex became a topic of interest for broadcast TV and radio in the United States and other countries. Jeffrey Eugenides' novel Middlesex (2002) is narrated by an intersex character who discusses the societal experience of an intersex person. The Japanese manga series I.S., first published in 2003, features intersexual characters and how they deal with intersex-related issues and influence the lives of people around them. Jeffrey Kent Eugenides (b. ... Middlesex (ISBN 0374199698) is a novel by Jeffrey Eugenides. ... I.S.(Aiesu), subtitled Otoko demo Onna demo nai Sei (男でも女でもない性), is an ongoing drama manga series by Chiyo Rokuhana, first published in Japan in 2003. ...

Notable intersex people

• Cheryl Chase (activist), intersex activist
• Erik Schinegger, alpine skier
• Jim Sinclair, autism rights activist

Cheryl Chase is the founder of the movement to protect the human rights of people born with intersex conditions. ... Erik Schinegger (born 19 June 1948 in Agsdorf, Austria) was the world champion womens downhill skier in 1966 when he was known as Erika Schinegger. In 1967, preparing for the 1968 Winter Olympics in Grenoble, a medical test by the International Olympic Committee (IOC) determined that Schinegger was chromosomally... Jim Sinclair is an autism rights activist who is prominent in Autism Network International. ... This box:      The autism rights movement (which has also been called autistic self-advocacy movement [1] and autistic liberation movement [2]) was started by adult autistic individuals in order to advocate and demand tolerance for what they refer to as neurodiversity. ...

Intersex organizations

• AIS Support Group UK & International
• AIS Support Group Australia
• Intersex Society of North America
• Organisation Intersex International

The Intersex Society of North America is an organisation formed to represent the interest of intersexuals: people whose bodies do not fit the accepted conventional ideas of male or female. External links Intersex Society of North America Categories: Intersexual ... The Organisation Intersex International (OII), founded in 2003 by Curtis Hinkle, is a decentralised network established to give voice to intersex people primarily outside the USA, those speaking languages other than just English, and people who do not fit the medicalised categories of disorder promoted by some other intersex groups...

Response from "mainstream" society

Lack in education

In high school, most emphasis is placed upon the most common XX and XY genotypes. Thus, people nowadays may be more likely to look towards the sex chromosomes than, for example, the histology of the gonads. However, according to researcher Eric Villain at the University of California, Los Angeles, "the biology of gender is far more complicated than XX or XY chromosomes".^[13] Many different criteria have been proposed, and there is little consensus.^[14] The University of California, Los Angeles (generally known as UCLA) is a public research university located in Los Angeles, California, United States. ...

Disorders and Scope

Sax's strict definition of intersex is most relevant to family practice and psychological research. Other interest groups serve different communities and concerns and so broaden the definition of intersex in these fields.

For instance, the Intersex Society of North America (ISNA) definition also includes androgen insensitivity syndrome (AIS), congenital adrenal hyperplasia (CAH), ambiguous genitalia, and mosaic chromosomes (mosaicism), in addition to sex chromosome aneuplodies, and any deviations from "the Platonic ideal" in the scope of intersex. It is derived from Anne Fausto-Sterling, an academic in gender studies. In other words, it also includes: The Intersex Society of North America is an organisation formed to represent the interest of intersexuals: people whose bodies do not fit the accepted conventional ideas of male or female. External links Intersex Society of North America Categories: Intersexual ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ... Mosaicism In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Anne Fausto-Sterling, Ph. ... Gender studies is a theoretical work in the social sciences or humanities that focuses on issues of sex and gender in language and society, and often addresses related issues including racial and ethnic oppression, postcolonial societies, and globalization. ...

• hypospadias, the placement of the urinary meatus on underside of the penis or at the base, instead of at the end; and,
• Kallmann syndrome, a condition in which the pituitary gland does not stimulate to release the hormones required for testicular growth, resulting in undescended testes and a micropenis.

Note: This inclusion of Kallmann Syndrome as an intersex condition appears to be based on very early descriptions of the most obvious cases of Kallmann Syndrome, some of whom had multiple medical conditions. The majority of males with Kallmann Syndrome in fact do not have micropenis at birth, and not all have undescended testes. Kallmann syndrome is in fact one of many conditions that cause delayed/missing puberty, but which are not listed in this article. It also assumes that Kallmann Syndrome affects only males (again possibly based on very out of date information). Women may also have Kallmann Syndrome, again with delayed puberty. See notes below about Kallmann Syndrome. Most people with Kallmann's do not regard themselves as intersex. Furthermore, if delayed puberty also is included as intersex, then there is a problem in distinguishing normal pre-pubertal children and intersex. Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urethral meatus (opening). ... Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. ...

Other conditions whose status as "intersex" are disputed include:

• Turner syndrome

Note: Again most people with Turner's do not regard themselves as intersex. This is not surprising since the majority of them are born unambiguously female, though a very small percentage with XYXO chromosomes may have ambiguous genitalia.

• Klinefelter syndrome
• clitoromegaly
• micropenis

XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Clitoromegaly (or macroclitoris [1]) is an abnormal enlargement of the clitoris (not to be confused with the normal enlargement of the clitoris seen during sexual arousal). ... Micropenis is a medical term that describes an unusually small penis. ...

Prevalence

The prevalence of intersex depends on which definition is used.

According to the ISNA definition above, 1 percent of live births exhibit some degree of sexual ambiguity,^[15] and that between 0.1% and 0.2% of live births are ambiguous enough to become the subject of specialist medical attention, including surgery to disguise their sexual ambiguity. “Surgeon” redirects here. ...

According to Fausto-Sterling's definition of intersex^[16], on the other hand, 1.7 percent of human births are intersex.^[16] She writes,

Signs

Ambiguous genitalia

Wax example of one sort of human intersexed genitalia

Ambiguous genitalia appear as a large clitoris or small penis and may or may not require surgery. Image File history File linksMetadata Wax_human_hermaphrodit_genital_1. ... Image File history File linksMetadata Wax_human_hermaphrodit_genital_1. ...

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, 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. Genitalia masculina externa A sex organ, or primary sexual characteristic, as narrowly defined, is any of those anatomical parts of the body which are involved in sexual reproduction and constitute the reproductive system in a complex organism; namely: Male: testicles, penis, prepuce, scrotum, prostate, seminal vesicles, epididymis, Cowpers glands... A sex organ, or primary sexual characteristic, narrowly defined, is any of those parts of the body (which are not always bodily organs according to the strict definition) which are involved in sexual reproduction and constitute the reproductive system in an complex organism; namely: Male: penis (notably the glans penis... The clitoris is a sexual organ that is present in biologically female mammals. ... This article or section does not cite its references or sources. ... The penis (plural penises, penes) is an external male sexual organ. ... Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urethral meatus (opening). ...

Fertility is variable. The distinctions "male pseudohermaphrodite", "female pseudohermaphrodite" and especially "true hermaphrodite" are vestiges of 19th century thinking that placed "true sex" in the histology (microscopic appearance) of the gonads. A thin section of lung tissue stained with hematoxylin and eosin. ... The gonad is the organ that makes gametes. ...

"True hermaphroditism"

With some conditions of intersex, even the chromosomal sex may not be clear. A "true hermaphrodite" is defined as someone with both male gonadal tissue (testes) and female gonadal tissue (ovarian tissue).

In 2004, researchers at UCLA published their studies of a lateral gynandromorphic hermaphroditic bird, which had a testicle on the right and an ovary on the left. Its entire body was split down the middle between male and female, with hormones from both gonads running through the blood.^[17]

This extreme example of hermaphroditism is quite rare.

Ovotestes

Although there are no definite reports on any true hermaphroditism in humans, there is, on the other hand, a spectrum of forms of ovotestes. The varieties range, including having two ovotestes or having one ovary and one ovotestis. This is often in the form of streak gonads. Phenotype is not determinable from the ovotestes; in some case 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."^[18] An ovotestis is a gonad with both testicular and ovarian aspects. ... Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often only presenting streaks of connective tissue: so-called streak gonads. ...

Intersex activist Cheryl Chase (activist) is an example of someone with ovotestes.^[19] Cheryl Chase is the founder of the movement to protect the human rights of people born with intersex conditions. ...

Other diagnostic signs

In order to help in classification, other methods 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. Karyogram of human male using Giemsa staining. ...

Management

Management of intersex can be categorized into one of the following two ^[20]:

1. Treatments: Restore functionality (or potential functionality)
2. Enhancements: Give the ability to identify with “mainstream” people e.g. breast enlargement surgery

However, there are other categorisation systems of management of intersexed, which falls into neither category.^[21]

In any case, the most common procedure is surgery.

Surgery

The exact procedure of the surgery depends on what is the cause of a less common body phenotype in the first place.

If

There is often concern whether surgery should be performed at all.

Traditional approaches to management of Intersexuality has been socially motivated surgery. However, some ^[21] (Alice Dreger) say that surgical treatment is socially motivated and hence ethically questionable; without evidence doctors regularly assume that intersexed persons can not have a clear identity. This is often taken further with parents of intersexed babies advised that without surgery their child will be stigmatized. Creating such pressures without supporting evidence is either bad science or bad ethics.

The second assumption is that “mainstream” people are always happy and have a clear sense of purpose. One only needs to look within mainstream society to see this is a fiction.

In 20% to 30% of surgical cases to “treat” intersexed babies the result is loss of adult sensations (See Newman 1991, 1992). Given these statistics and the fact that surgery is irreversible it is important to remember this is a material change based on a social framework. In other words, surgery on babies is ignoring the right to autonomy.

In this sense, the treatment is for parental anxiety rather than a treatment or enhancement for the intersexed^[21]. Drawing an analogy with a hypothetical homosexuality gene test, comparable treatment would involve the repression of all sexuality in anyone who came up positive on such a test.

When

Most modern intersexed advocates argue surgery on intersexed babies should wait until the child can make an informed decision.^{[citation needed]}

Causes

"Mainstream" sex development

Main article: Sexual differentiation

Before discussing the development of intersex, it is necessary to understand the most common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair. Sexual differentiation is the process of development of the differences between males and females from an undifferentiated zygote (fertilized egg). ... Sexual differentiation is the process of development of the differences between males and females from an undifferentiated zygote (fertilized egg). ...

During fertilization, the sperm adds either an X (female) or Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo.^[22] 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.^[22] Through the seventh week, male and female 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.^[22] By birth, the typical fetus has been completely "sexed" male or female, the hormones and genital development remaining consistent with the genetic sex. The Müllerian ducts are paired ducts of the embryo which empty into the cloaca, and which in the female develop into the upper vagina, cervix, uterus and oviducts; in the male they disappear except for the vestigial vagina masculina and the appendix testis. ... This article is about female reproductive anatomy. ... Female internal reproductive anatomy The Fallopian tubes or oviducts are two very fine tubes leading from the ovaries of female mammals into the uterus. ... Anti-Müllerian hormone (AMH) is a dimeric glycoprotein that inhibits the development of the Müllerian ducts in a male embryo. ... The Wolffian duct (also known as archinephric duct, Leydigs duct, mesonephric duct, or nephric duct) is a paired organ found in mammals including humans during embryogenesis. ... The vas deferens (plural: vasa deferentia), also called ductus deferens, (Latin: carrying-away vessel) is part of the male anatomy of some species, including humans. ...

Less usual chromosomal sex

In addition to the most common XX and XY chromosomal sexes, there are quite a few other possible combinations such as Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), XYY syndrome (XYY), XX male, Swyer syndrome (XY female), and there are many other individuals who do not follow the typical patterns (such as individuals with four or even more sex chromosomes). Turner syndrome or Ullrich-Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. ... Triple X syndrome is a chromosomal aneuploid abnormality characterized by the presence of an extra X chromosome in each cell of a human female. ... Not to be confused with XYY syndrome or XXX syndrome. ... XYY, or XYY syndrome and also known as the Jacob Syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. Effects Physical traits XYY syndrome typically causes no unusual physical features or... XX male syndrome (also called de la Chapelle syndrome) is a rare sex chromosomal disorder in men. ... Swyer syndrome, or XY gonadal dysgenesis, is a type of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY. Her gonads are found to be nonfunctional streaks. ...

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, while chimerism is a fusion of two embryos. Mosaicism In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... In zoology, a chimera is an animal which has (at least) two different populations of cells, which are genetically distinct and which originated in different zygotes (fertilised eggs). ...

Alternatively, it is simply is a mixture between XX and XY, and doesn't have to involve any less common genotypes in individual cells. This, too, can occur both as a chimerism, or that one sex chromosome has mutated into the other^[18][23]

On the other hand, however, not all cases of mosaicism and chimerism involve intersex.

Incongruence between chromosomal and phenotypic sex

The final body appearance doesn't always correspond with what is dictated by the genes. In other words, there is sometimes an incongruence between genotypic (chromosomal) and phenotypic sex. Although there neither no less common chromosomal sex nor mosaicism/chimerism, but just the most common types (XY or XX), less common phenotypes still appear in such cases. In this sense, the common habit in the 21st century of elevating the role of the sex chromosomes above all other factors when determining gender may be analogous to the older habit of finding "true" sex in the gonads. A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ...

This phenomenon complicates the common XY sex-determination system, because it proves that genes don't always definitely determine the sex.^[24] The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects (Drosophila) and some plants (Ginkgo). ...

The cause of such an incongruence is mostly congenital adrenal hyperplasia, where the kidney synthesizes vitilizing hormones, even in the absence of testes. Another cause is androgen insensitivity syndrome, where testes are present and functional, but the body doesn't respond properly to them. In either the case of AIS or CAH, testing of the chromosomes can be done to determine the genetic sex of the individual. Both are described below:

Congenital adrenal hyperplasia

Main article: Congenital adrenal hyperplasia

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 genetic females, this leads to an appearance that may be slightly masculinized (large clitoris) to quite masculine. Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ... In mammals, the adrenal glands (also known as suprarenal glands) are the triangle-shaped endocrine glands that sit on top of the kidneys; their name indicates that position (ad-, near or at + -renes, kidneys). They are chiefly responsible for regulating the stress response through the synthesis of corticosteroids and catecholamines...

Cause

CAH is a genetic disorder in which the adrenal glands, while trying to make cortisone, may make an unusually high level of masculinizing hormones. When CAH occurs in an XY embryo, this is not an intersex condition, because it rather enhances the masculine characteristics.

Due to a defect in one of the enzymes that synthesize adrenal hormones, a blockage in one synthetic pathway will occur, causing excessive production of androgenic hormones in a different pathway, virilizing an XX fetus in utero. Genitalia may appear completely masculine, or it may be ambiguous.^[17].

• In persistent müllerian duct syndrome, 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.

• A similar phenomenon occurs in cases where a cow brings two fraternal twins, one male and one female, to term. Because (unlike humans) such twins share hormones via their placental blood interface with the mother cow, male hormones produced in the body of the fetal bull find their way into the body of the fetal cow and masculinize her brain. The result is a freemartin (unconventional heifer), a cow that will eventually try to mount other cows the way that a bull would.

Persistent müllerian duct syndrome (PMDS) refers to the presence of a uterus and sometimes other müllerian duct derivatives in a male. ... Anti-Müllerian hormone (AMH) is a dimeric glycoprotein that inhibits the development of the Müllerian ducts in a male embryo. ... A freemartin is a female bovine with a masculinized behavior and non-functioning ovaries. ...

Androgen insensitivity syndrome

Main article: Androgen insensitivity syndrome

People with AIS have typically male chromosomes (XY), along with typically female appearance and genitalia. Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ...

Although people with AIS have a vagina, they lack a uterus, cervix of the uterus, and ovaries, and are thereby infertile. The vagina may be shorter than average; in some cases it is nearly absent. Instead of female internal reproductive organs, a person with AIS has undescended or partially descended testes, of which she may not even be aware. The vagina, (from Latin, literally sheath or scabbard ) is the tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. ... This article is about female reproductive anatomy. ... The cervix (from Latin neck) is the lower, narrow portion of the uterus where it joins with the top end of the vagina. ... Human female internal reproductive anatomy Ovaries are a part of a female organism that produces eggs. ...

AIS may be called the genetic male's equivalent of CAH, since AIS affects people with XY genotype, while CAH affects people with XX genotype.

Development of AIS

In androgen insensitivity syndrome, a genetic male with XY chromosomes is otherwise female. The body fails to respond to the testosterone produced by the testes, due to an androgen receptor defect.^[25] This defect is mostly inherited, but can also be the cause of spontaneous mutation.

During development, the testes form, but due to the body's insensitivity to the testosterone responsible for the differentiation into Wolffian structures (epididymis, vas deferens, and seminal vesicles) the body differentiates along the female path. In other words, certain hormonal conditions, in this case the body's response to them, must exist for male development to ensue, even if the sex chromosome pattern is 46,XY.^[22]

At puberty, a child with AIS develops breasts and a feminine shape.^[16] In normal women, both testosterone and estrogen are present, but since the bodies of AIS women do not recognize testosterone, it is converted to estrogen. Testosterone is responsible for the growth of pubic and axillary hair, so many women with AIS have no hair in these areas, or have only sparse hair. Primary amenorrhea (absence of menstruation) is another sign of AIS.^[26]

Diagnosis

An AIS female may be unaware of her condition. Symptoms of primary amenorrhea, lack of pubic and axillary hair, and what appears to be a hernia can lead a female with AIS to present these indicators to a doctors, leading to the discovery of AIS. Pubic hair is hair in the frontal genital area, the crotch, and sometimes at the top of the inside of the legs; these areas form the pubic region. ... Armpit Hair Underarm hair is the composition of hair in the underarm area. ... Look up hernia in Wiktionary, the free dictionary. ...

It is possible to diagnose AIS during the ninth to 12th week of pregnancy, using chorionic villus sampling, and it can be detected by ultrasound and amniocentesis by Week 16, although prenatal diagnosis of AIS is not indicated unless a family history of AIS is known.^[18] Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ...

Management

Individuals with complete AIS typically identify as female.^[26] Nevertheless, surgery and other techniques may be used to make the genital appearance more "typically female."

To lengthen the vagina, a woman with AIS may be instructed by a doctor to apply regular pressure dilation several times a day.^[27][28] Vaginoplasty, the surgical shaping of the vagina, and clitoridectomy, removal of the clitoris, may also be performed. A vaginoplasty is any surgical operation with the aim of correcting structural defects in the vagina or even to construct or reconstruct it. ... Clitoridectomy is the surgical removal of the clitoris. ... The clitoris is a sexual organ that is present in biologically female mammals. ...

Complete/Partial androgen insensitivity syndrome

In CAIS, the body reads no "male" hormones. In partial androgen insensitivity syndrome (PAIS), however, the body reads some androgens, so virilization occurs to a certain degree. PAIS results in genitalia that may be ambiguous, due to some, although limited, metabolization of the hormones produced by the testes. Ambiguous genitalia most frequently appear as a large clitoris, known as clitoromegaly, or a small penis, which is called as micropenis or microphallus. Clitoromegaly (or macroclitoris [1]) is an abnormal enlargement of the clitoris (not to be confused with the normal enlargement of the clitoris seen during sexual arousal). ... Micropenis is a medical term that describes an unusually small penis. ...

Other causes of intersex in XY

• 5-alpha-reductase deficiency. In this condition, individuals have testes, as well as vagina and labia, but with a small penis capable of ejaculation instead of a clitoris (this penis, however, appears to be a clitoris at birth). These individuals are normally raised as girls. However, come puberty, their testes will descend, their voice will deepen and they often will develop a male sexual identity. People with this deficiency develop only limited facial hair.

It has been suggested that this article or section be merged with Guevedoche. ...

Kallmann syndrome

Main article: Kallmann syndrome

Kallmann Syndrome is a specific type of hypogonadotropic hypogonadism (HH) in which the distinguishing symptom is anosmia or hyposmia in addition to the HH symptoms of low levels of pituitary hormones LH and FSH. Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ...

Kallmann Syndrome is not an intersex condition but does cause pubertal delay in both males and females. Some individuals with Kallmann's may regard themselves as intersex. However, this is possibly because they have other conditions such as PAIS in addition to Kallmann's. Such synchronous conditions is only present in a minority of people with Kallmann's, who mostly have no genital abnormality at birth. Therefore, mostly, there is no inconsistency of sex chromosomes with phenotype and they are therefore not intersex. Having pubertal delay but otherwise usual male or female body and fertility is not intersex.

Complications

Intersex people are in the risk of developing gender identity disorder, feeling significant discomfort or being unable to deal with the condition. Gender identity disorder, as identified by psychologists and physicians, is a condition in which a person has been assigned one gender, usually on the basis of their sex at birth (compare intersex disorders), but identifies as belonging to another gender, and feels significant discomfort or being unable to deal with...

Furthermore, 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. Castration, gelding, neutering, orchiectomy or orchidectomy is any action, surgical or otherwise, by which a biological male loses use of the testes. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ...

See also

• 17-beta-hydroxysteroid dehydrogenase deficiency

17-beta-hydroxysteroid dehydrogenase deficiency is a rare disorder of sexual development which can produce impaired virilization (traditionally termed male pseudohermaphroditism) of genetically male infants and children and excessive virilization of female adults. ...

References

Dr. Leonard Sax, M.D., Ph. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... April 8 is the 98th day of the year (99th in leap years) in the Gregorian calendar. ... Milton Diamond (born 6 March 1934 in New York, New York) is a professor of anatomy and reproductive biology at the University of Hawaii. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... April 8 is the 98th day of the year (99th in leap years) in the Gregorian calendar. ... is the 144th day of the year (145th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 329th day of the year (330th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 144th day of the year (145th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 329th day of the year (330th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 144th day of the year (145th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 155th day of the year (156th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 193rd day of the year (194th in leap years) in the Gregorian calendar. ... Year 2005 (MMV) was a common year starting on Saturday (link displays full calendar) of the Gregorian calendar. ... is the 208th day of the year (209th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Anne Fausto-Sterling, Ph. ... Dr. Leonard Sax, M.D., Ph. ... The New York Times is an internationally known daily newspaper published in New York City and distributed in the United States and many other nations worldwide. ... Time magazine, May 25, 1970 Gynecologist William Howell Masters (December 27, 1915 – February 16, 2001) and psychologist Virginia Eshelman Johnson (born February 11, 1925) pioneered research into human sexual behavior during the 1950s and 1960s. ... Time magazine, May 25, 1970 Gynecologist William Howell Masters (December 27, 1915 – February 16, 2001) and psychologist Virginia Eshelman Johnson (born February 11, 1925) pioneered research into the nature of human sexual response and the diagnosis and treatment of sexual disorders and dysfunctions from 1957 until the 1990s. ... is the 144th day of the year (145th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 329th day of the year (330th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ...

Bibliography

• Beh, Hazel Glenn, Milton Diamond. 2000. An Emerging Ethical and Medical Dilemma: Should Physicians Perform Sex Assignment on Infants with Ambiguous Genitalia?. Michigan Journal of Gender & Law, Volume 7 (1): 1-63, 2000.
• Human Rights Investigation into the medical "normalization" of intersex people - a report of a hearing of the San Francisco Human Rights Commission - PDF format
• Blackless, Melanie, Anthony Charuvastra, Amanda Derryck, Anne Fausto-Sterling, Karl Lauzanne, and Ellen Lee. 2000. How sexually dimorphic are we? Review and synthesis. American Journal of Human Biology 12:151-166.
• Dreger, Alice, Cheryl Chase, Aron Sousa, Philip Gruppuso, and Joel Frader. 2005. "Changing the Nomenclature/Taxonomy for Intersex: A Scientific and Clinical Rationale" Journal of Pediatric Endocrinology & Metabolism 18:729-733.
• Dreifus, Claudia. "A Conversation with Anne Fausto-Sterling" The New York Times. 2 January 2001 (p. F3).
• Heard, Alex. "Out There: Everything But the Truth" The Washington Post Magazine. 4 September 1988 (p. W9).
• Karkazis, Katrina. The Intersex Debates (Durham, NC: Duke University Press, fall 2008).
• Musto, Michael. "La Dolce Musto". The Village Voice. 22 September 1998 (p. 12).
• Sax, Leonard. How common is intersex? A response to Anne Fausto-Sterling. J Sex Research 39:174-9, 2002
• (2004) The Evolution of Self-Fertile Hermaphroditism: The Fog Is Clearing. PLoS Biol 3(1): e30.
• Eugenides, Jeffrey Middlesex (2002) (ISBN 0-374-19969-8) - Pulitzer Prize for fiction

PDF is an abbreviation with several meanings: Portable Document Format Post-doctoral fellowship Probability density function There also is an electronic design automation company named PDF Solutions. ... is the 2nd day of the year in the Gregorian calendar. ... Year 2001 (MMI) was a common year starting on Monday (link displays the 2001 Gregorian calendar). ... is the 247th day of the year (248th in leap years) in the Gregorian calendar. ... Year 1988 (MCMLXXXVIII) was a leap year starting on Friday (link displays 1988 Gregorian calendar). ... is the 265th day of the year (266th in leap years) in the Gregorian calendar. ... Year 1998 (MCMXCVIII) was a common year starting on Thursday (link will display full 1998 Gregorian calendar). ... Jeffrey Kent Eugenides (b. ... Middlesex (ISBN 0374199698) is a novel by Jeffrey Eugenides. ... The Pulitzer Prize for Fiction has been awarded since 1948 for distinguished fiction by an American author, preferably dealing with American life. ...

External links

• Androgen Insensitivity Syndrome Support Group (AISSG)
• Organisation Intersex International
• New guidelines for treating 'intersex' babies Doctors urged not to operate on infants with unclear gender (Associated Press, February 2005)
• Bodies Like Ours
• Consortium on the Managment of Disorders of Sex Development
• Intersex Society of North America
• Intersex Initiative
• Semi-identical twins discovered