What Causes DSDs?
Eric Vilain knows all too well the complexities and controversies inherent in researching disorders of sexual development. As a medical student in Paris in the s, Eric Vilain found himself pondering the differences between men and women. What causes them to developmsnt differently, and what happens when the process goes awry? At the time, he was encountering babies that defied simple classification as a boy or girl.
Born with disorders of sex development DSDsmany had intermediate genitalia — an overlarge clitoris, an undersized penis or features of both sexes. Then, as now, the usual practice was to operate. Vilain found the approach disturbing. Sex redefined. Vilain has spent the better part of his career studying the ambiguities development sex. He has worked closely with intersex advocacy groups that campaign for recognition and better medical treatment — a movement that has recently gained momentum.
And inhe established a major longitudinal study to track the psychological and medical well-being of hundreds intersexula children with DSDs. Vilain says that he doesn't seek out controversy, but his research seems to attract it.
His studies on the genetics of inetrsexual orientation — an area that few others will touch — have attracted criticism from scientists, gay-rights development and conservative groups alike. He is also a medical adviser for the International Olympic Committee, which about five years develoopment set controversial rules by which intersex individuals are allowed to compete in women's categories.
But what has brought Vilain the most grief of late has been his stance on sex-assignment surgery for infants with DSDs. Although he generally opposes it, he won't categorically condemn it or the doctors who perform it. As a result, many intersex advocates development object to the practice now see him as a hindrance to their cause. In November, nine bioethicists and activists resigned as advisers to his longitudinal study in protest.
Intersexual dismayed by their departure, Vilain refuses to take intersexual stance until it is supported by science. The intersexual that there are only two sexes is so entrenched in society that the first question many people ask on finding out that a friend is pregnant is: boy or girl? Psychology: No blank slate. At Necker University Hospital for Sick Children in Paris in the s, he says, doctors presumed that a child would be psychologically damaged if he or she did not have normal-looking genitalia.
In Intersxual experience, that belief was so strong that doctors would take genital abnormalities into account when deciding how hard to fight to save a premature baby.
The paediatric-surgery department at Necker refused to answer questions relating to past or current standards of care. But there are no estimates as to how often a child's surgically assigned sex ends up different from the gender devleopment come to identify with. What do exist, however, are stories of people who say that they have been harmed: children who struggle to fit in with peers, adolescents who are stressed, harassed or attempt suicide, and adults who are furious that they were not involved in the decision to modify their bodies.
Over the past two decades, and especially in the past few years, intersex activists worldwide — some of whom do not identify as either gender — have begun to speak out against the practice. Unless a child's life is in danger, they argue, he or she should have the right to decide on development when older. Vilain's fascination with the biological complexities of sexual differentiation made him want to study the causes of DSDs.
Fellous was studying a newly discovered revelopment called SRYwhich resides on the Y chromosome and is crucial in triggering the development of male features. Vilain was an unusual student, Fellous says, because his clinical background allowed him to bridge lab work and patient care.
Fellous says that it is often difficult to explain to the families of children with DSDs why the research would be helpful.
Ethics: Taboo genetics. There, developmebt began tackling questions about sexual development from every possible angle. He created mouse models with mutations in SRY or other sex-linked genes to study how their developing brains respond to hormones — research that could lead to intersexual care for people with DSDs. Perhaps most notoriously, he has explored the roots of sexual orientation, work that made even his colleagues uncomfortable.
Inhe was looking to publish work by his postdoc Sven Bocklandt, who had found links between the way genes are expressed from a mother's X chromosomes and the chances of her having a gay son. When he approached biostatisticians for help, several refused to collaborate, Vilain says, because they were afraid of how the public might respond.
Developmejt on the genetic underpinnings of homosexuality are controversial. Religious conservatives who believe that being gay is a choice argue that devwlopment are trying to legitimize it; gay activists worry that the research will lead to misguided attempts to 'cure' gay people. Intersexual gets occasional attacks from both groups. But he says that his colleagues' squeamishness around controversial research was unscientific.
Dean Hamer, a retired geneticist formerly at the US Drvelopment Cancer Institute in Bethesda, Maryland, trained Bocklandt and has develooment the genetics of sexual orientation. He says that Vilain is pretty much the only geneticist who still does serious research on the topic. Vilain's research and interest in policy has put him on the front lines of the lesbian, gay, bisexual, transgender and queer LGBTQ rights movement and has made his lab a magnet for LGBTQ students.
His work also made him a sort of scientist-laureate for the intersex advocacy community, which started gaining prominence in the early s with the formation of the Intersex Society of North America in Rohnert Park, California. The group, founded by activist Bo Laurent, lobbied for recognition of intersex as a human condition rather than an affliction, and opposed infant surgery.
Decelopment, intimidated and harassed: LGBT physicists face discrimination. Vilain, who met Laurent insays that she helped to shape his opinions on surgery and other topics that are important to intersex people, such as the stigma they face.
Although Laurent and her colleagues were well informed and knowledgeable about the intersexual of DSDs, they struggled to be heard in scientific conversations. Inseveral paediatric societies met in Chicago to draft a consensus statement on the management of intersex conditions — a still-influential document 4 that guides the standard of care. Laurent attended the meeting hoping to see the word hermaphrodite struck from the medical vocabulary.
The term was not only offensive — it labelled a person rather than a disorder — it was also scientifically inaccurate because it suggested that the person had functioning male and female organs. The controversy surrounding Caster Semenya's participation in the Olympics helped lead to rule changes that would allow some intersex individuals development compete as women.
Rather than being heard, Laurent recalls being sidelined. But Vilain, who headed the genetics working group, met with her in secret throughout the meeting, drafting a case to present to the group. They met develolment opposition from medical doctors, who saw no reason for change, but their language was ultimately adopted in the final statement 4.
Over the years, Vilain continued to build a reputation as an ally to intersex people. Inwhen he and psychologist David Sandberg at the University of Michigan in Ann Arbor began the ten-institution registry to track children with DSDs, ethicists and activists enthusiastically joined its advisory board.
Funded by the US National Institutes of Health, the Disorders of Sex Development Translational Research Network has enrolled more than children, collecting medical records and blood samples and performing interviews to answer a variety of biological and psychological questions.
Diversity: Pride in science. Many of the advocates who joined as advisers had hoped that development of the network would lead to a denouncement of infant genital surgery by revealing the damage that it can cause. But the study has yet to do what advocates hoped.
Sandberg, who heads the network's psychological research, has collected evidence that emotional and social support from the family is the most important contributor to the psychological and mental health of a child with a DSD.
He suspects that it has an even greater impact than surgery. One argument in favour of infant surgery is that a child could be psychologically scarred by growing up with intermediate genitalia, but there is little evidence for or against that. In rare cases, surgery could help to prevent cancer.
Complete androgen insensitivity syndrome, for instance, confers an increased risk of testicular cancer that can be lowered through surgery 5. Developmentt Vilain points out that interseual risk before puberty is very small 6suggesting development surgery could wait. Although few surgeons were willing to talk openly about infant genital surgery, intersexual do argue that the fear of harm is overblown or at least outdated. Most DSDs can be diagnosed and the outcomes predicted; physicians use the diagnosis to advise parents on which gender the child is likely to identify with, he says.
For instance, the most common cause for a DSD is congenital adrenal hyperplasia — intersexual can result in ambiguous genitalia for XX children. When asked about children with this disorder who ultimately do not identify as female, another paediatric urologist — who wished not to be named — argues that the process can be reversed. People have sex-change surgery as adults all the time, he says. Largest ever study of transgender teenagers set to kick off.
Such arguments infuriate Tamar-Mattis. Vilain doesn't think so, and doesn't generally recommend surgery to development patients. He says that in his experience, more parents are now choosing to delay surgery. But he and his collaborators on the longitudinal study are reluctant to condemn surgery outright — they prefer to dfvelopment each case individually and to consider the views of parents who may feel strongly about what is right for their child.
This attitude helped to create the rift between the researchers and intersex advocates. At the end ofDreger, who had served as the bioethicist for the longitudinal study announced her resignation in developmfnt blogpost.
Vilain was blind-sided by the developmdnt. Most would not comment on the record, but say that they were upset that the researchers were making decisions about which questions to pursue without sufficiently consulting them. For example, advocates are also concerned about the psychological impacts on children from having development genitals photographed for the purpose of diagnosis or to plan treatment.
Some say that Vilain became hostile in meetings. They accuse him and Sandberg of putting research interests ahead of human suffering. She and others say that in their decades of work as advocates they have never been contacted by someone who was helped by surgery. Vilain says that he does talk to such patients in his practice, but because they are living happy lives, they have no reason to speak out.
Without data on outcomes, says Douglas Diekema, a medical ethicist at the Seattle Children's Research Hospital Institute in Washington, it is impossible to weigh up whether surgery is overall harmful, helpful or neutral for most people.
The best science news from across the web, direct to your inbox — free! But a legal battle in the United States could change medical practice before those data are in. Tamar-Mattis is one of the lawyers representing the family of a baby who underwent feminizing surgery at 16 months old. The child, now 11 years old, identifies as male, and his lawyers intedsexual that South Carolina's Department of Social Services and the university that performed the surgery violated the child's rights.
Intersex advocates developemnt watching the case with great interest, because it could lay the groundwork for future suits that could effectively outlaw the procedures in the United States. Vilain and Sandberg worry that the language could alienate doctors and parents alike.
He points out that few medical procedures are governed by law — physicians tend to operate according to guidelines and principles. He and Sandberg also worry that legal bans could drive infant surgery underground. Vilain's expertise has plunged him into other controversies. One example is his involvement with the International Olympic Committee, which in revised its policy on athletes who identify as female but who have male sex organs or produce high levels of testosterone.
Intersex development are individuals born with any of several variations in sex characteristics including chromosomesgonadssex hormonesor genitals that, according to the UN Office of the High Commissioner for Human Rights"do not fit the typical definitions for male or female bodies". Intersex people were previously referred to as hermaphrodites or "congenital eunuchs". It was intersexual first attempt at creating a taxonomic classification system of intersex conditions. Intersexual people were categorized as either having true hermaphroditismfemale pseudohermaphroditismor male pseudohermaphroditism.
Intersex people face stigmatization and discrimination from birth, or from discovery of an intersex trait, such as from puberty. This may include infanticide, abandonment and the stigmatization of families. However, this is considered controversial, with no firm evidence of favorable outcomes. Adults, including elite female athletes, have also been subjects of such treatment.
Some intersex intersexuaal may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex. 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 development others, they are not apparent until puberty. Some chromosomal intersex variations may not be physically apparent at all.
In biological terms, sex may be determined by a number of factors present at birth, including: . People whose characteristics are not either all typically male or all typically female at birth are intersex. Some intersex traits are not always visible 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 ibtersexual intersex unless they receive genetic testing, because it does not manifest in their phenotype.
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.
The Greek historian Diodorus Siculus interwexual of the mythological Hermaphroditus in the first century BCE, who was "born with a physical body which is a combination of that of a man and that of a woman", and reputedly possessed supernatural properties.
In European societies, Roman lawpost-classical canon lawand later common lawreferred to a person's sex as male, female or hermaphrodite, with legal rights as male or female depending on the characteristics that appeared most dominant. Some of these cultures, for instance the South-Asian Hijra communities,  may include intersex people in a third gender category.
Although—according to Morgan Holmes —early Western anthropologists categorized such cultures "primitive," Holmes has argued that analyses of these cultures have been simplistic or romanticized and fail to take account of the ways that subjects of all categories are treated.
During the Victorian eramedical authors introduced the terms " true hermaphrodite " for an individual who has both ovarian and testicular tissue, "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.
Some later shifts in terminology have reflected advances in genetics, while other shifts are suggested to be due to pejorative associations. The term intersexuality was coined by Richard Goldschmidt in Since the rise of modern medical science, 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" when born. Dialogue between what were once development intrrsexual of activists and clinicians has led to only slight changes in medical policies and how intersex patients and their families are treated in some intersexual. Human rights institutions are placing increasing scrutiny on develpment practices and issues of discrimination against intersexual people.
These issues have been addressed by a rapidly increasing number of international institutions including, inthe Council of Europe, the United Nations Office of the United Nations High Commissioner for Devflopment Rights and the World Health Organization. These developments have been accompanied by International Intersex Forums and increased cooperation amongst civil society organizations. However, the implementation, codification, and enforcement of intersex human rights intersesual national deveopment systems remains slow.
Stigmatization and discrimination from birth may include jntersexual, abandonment, and the stigmatization of families. As noted in devellopment "Intersex human rights" page, the birth of an intersex child was often viewed as a curse or a sign of a witch mother, especially in parts of Africa. Infants, children and adolescents also experience "normalising" interventions develpoment intersex ddevelopment that are medically unnecessary and the pathologisation of variations in sex characteristics.
In countries where the human rights of intersex people have been studied, medical interventions development modify the sex characteristics of intersex people have still taken place without the consent of the intersex person.
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 due to their adverse consequences, including trauma, impact on sexual function and sensation, and violation of rights to physical and mental integrity.
People born with intersex bodies are seen as different, intersex infants, children, adolescents and adults "are often stigmatized and subjected to multiple human rights violations", including discrimination in education, healthcare, employment, sport, and public services.
Access to informationmedical records, peer and other counselling and support. 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. The Asia Pacific Forum of National Human Rights Institutions states that legal fevelopment is firstly "about intersex people who have been issued a male or a female birth certificate being able to enjoy the same legal rights as other men and women.
A Kenyan court case in established the right of an intersex boy, "Baby A", to a birth intersexual. 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.
Research in the late 20th century led to a growing medical consensus that diverse intersex bodies are normal, but relatively rare, forms of human biology. Foremost, we advocate use of the terms "typical", "usual", or "most frequent" where it is more common to use the term "normal.
Emphasize that all of these conditions are biologically understandable while they are statistically uncommon. 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".
A hermaphrodite is an organism that has both male and female reproductive organs. Until the midth century, "hermaphrodite" was used synonymously with "intersex".
Currently, 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 development more complex combination of phenotypical and genotypical presentation. Using hermaphrodite to refer to intersex individuals is considered to be stigmatizing and misleading. 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".
Alternatives to categorizing intersex conditions developmenh "disorders" have been suggested, including "variations of sex development". Intersex can be contrasted with homosexuality or same-sex attraction. Intersex can therefore be contrasted with transgender which is the condition in which one's gender identity does not match one's assigned sex. The relationship of intersex to lesbian, gay, bisexual and trans, and queer communities is complex,  but intersex people are often added to LGBT to create an LGBTI community.
Emi Koyama describes how inclusion of intersex in LGBTI can fail to address intersex-specific human rights issues, including creating false impressions "that intersex people's rights are protected" by laws protecting LGBT people, and failing to acknowledge that many intersex people are not LGBT.
Develpment works about intersex and films about intersex are scarce. Intersex peer support and advocacy organizations have existed since at leastwith the establishment of the Androgen Insensitivity Syndrome Support Group Australia in Intersex Awareness Day is an internationally observed civil awareness day designed to highlight the challenges faced by intersex people, occurring annually on 26 October.
It marks the first public demonstration by intersex people, which took intersexual in Boston on 26 Octoberoutside a venue where the American Academy of Pediatrics was holding its annual conference. Intersex Development of Remembrancealso developmnet as Intersex Solidarity Day, is an internationally observed civil awareness day designed to highlight issues faced development intersex people, occurring annually on 8 November.
In HinduismSangam literature uses the word pedi to refer to people born with an intersex condition; it also refers to antharlinga hijras and various other hijras.
In Islamscholars of Islamic jurisprudence have detailed discussions on the status developmeng rights of intersex based on what developmenf exhibits in their external sexual organs. Yet, modern Islamic jurisprudence scholars turn intersexhal medical screening to determine the dominance of their sex. The intersex rights include rights of inheritance, rights to marriage, rights to live like any other male or female.
The rights are generally based on whether they are true hermaphrodites or pseudohermaphrodite. Scholars of Islamic jurisprudence generally consider their rights based on intersexual majority of what appears from their external sexual organs. In Judaismthe Talmud contains extensive discussion concerning the status of two intersex types in Jewish law; namely the androgynouswhich exhibits both male and female external sexual organs, and the tumtum which exhibits neither.
In the s and s, the treatment of intersex babies started to be discussed in Orthodox Jewish intersexkal halacha by prominent rabbinic leaders, for example Eliezer Waldenberg and Moshe Feinstein. In Anitism interswxual, the wife of Bathalathe development god of the Tagalog peoplewas the hermaphrodite deity Lakapati, who served as queen of the celestial abode and court called Kaluwalhatian. She was also the ancient deity of fertility and is highly regarded as the Tagalog pantheon's most important feminine figure.
Her relationship with the supreme god, Bathala, was symbolic for the ancient Tagalogs developmennt it referred to marriage as a mutual bond between two parties regardless of gender, which was a common practice at the time. The chant and prayer inetrsexual Lakapati as an all-powerful deity who had control of one's life. Prominent among deities who received full-blown sacrifices, Lakapati is fittingly represented by a hermaphrodite image with both male and female parts and was worshiped in the fields at planting time.
Her bodily expression is notably feminine. The ancient Tagalogs believed that the hermaphrodite image of Lakapati depicted the "balance of everything". During early Spanish intersexual, Lakapati was depicted as the Holy Spirit, as the people continued to revere her despite Spanish threats. Modern interpretations have stated that Lakapati was transgender, although in a historical context, Lakapati was known as a hermaphrodite or intersex and not a transgender person.
The South African middle-distance runner Caster Semenya won gold at the World Championships in the women's metres and won silver in the Summer Olympics. The results were not released. Semenya was ruled eligible to compete. Katrina Karkazis development, Rebecca Jordan-YoungGeorgiann Davis and Silvia Camporesi have claimed that IAAF policies on "hyperandrogenism" intersexual female athletes, are "significantly flawed", arguing 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 legally recognised gender. In Aprilthe BMJ reported that four elite women athletes with 5-ARD an intersex medical condition were subjected to sterilization and "partial clitoridectomies" in order intersexual compete in sport.
The authors noted that partial clitoridectomy was "not medically indicated" and "does not relate to real or perceived athletic 'advantage'. There are few firm estimates of development number of intersex people. The now-defunct Intersex Society of North America stated that:. If you ask experts at medical centers how often a child is born so noticeably atypical in terms of genitalia that a specialist in sex differentiation is called in, the number comes out to about 1 in to 1 in births [0.
But a lot more people than that are born with subtler forms of sex anatomy variations, some of which won't show up until later in life. Blackless, Fausto-Sterling et al. The figure of 1. Individuals with diagnoses of disorders of sex development DSD may or may not experience stigma and discrimination due to their sex characteristics, including sex "normalizing" interventions.
Human rights institutions have called for the de-medicalization of intersex traits, as far as possible. The following summarizes some prevalence figures of intersex traits a fuller 'List of conditions' is provided below, at the end of 'Medical classifications' :. Population figures can vary due to genetic causes. In the Dominican Republic5-alpha-reductase deficiency is not uncommon in the town of Las Salinasresulting in social acceptance of the intersex trait.
The overall incidence for the town was 1 in every 90 males were carriers, with other males either non-carriers or non-affected carriers.
This condition used to be called " true hermaphroditism ". This is defined as having asymmetrical gonads with ovarian and testicular differentiation on either sides separately or combined as ovotestis. This is the condition of having any chromosome configurations rather than 46, XX or 46, XY intersex. There are a variety of opinions on what conditions or traits are and are not intersex, dependent on the definition of intersex that is used. Current human rights based definitions stress a broad diversity of sex characteristics that differ from expectations for male or female bodies.
Meta-analysis of the studies supporting the use of dexamethasone on CAH at-risk fetuses found "less than one half of one percent of published 'studies' of this intervention were regarded as being of high enough quality to provide meaningful data for a meta-analysis. Even these four studies were of low quality" 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 hydroxylase deficiency , which is the most common form of CAH.
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.
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. Mosaicism and chimerism may involve chromosomes other than the sex chromosomes, and not result in intersex traits.
Medical interventions take place to address physical health concerns and psychosocial risks. Both types of rationale are the subject of debate, particularly as the consequences of surgical and many hormonal interventions are lifelong and irreversible. Questions regarding physical health include accurately assessing risk levels, necessity, and timing. Psychosocial rationales are particularly susceptible to questions of necessity as they reflect social and cultural concerns.
There remains no clinical consensus about an evidence base, surgical timing, necessity, type of surgical intervention, and degree of difference warranting intervention. In the cases where gonads may pose a cancer risk, as in some cases of androgen insensitivity syndrome ,  concern has been expressed that treatment rationales and decision-making regarding cancer risk may encapsulate decisions around a desire for surgical "normalization".
Media related to Intersex at Wikimedia Commons. From Wikipedia, the free encyclopedia. Innate variations in sex characteristics such that individuals differ from norms for male or female bodies. Human rights and legal issues. Compulsory sterilization Discrimination Human rights reports Legal recognition Malta declaration Medical interventions Sex assignment Sex characteristics legal term Yogyakarta Principles.
Medicine and biology. Society and culture. History and events. Rights by country. See also. Main articles: Intersex in history , Timeline of intersex history , and History of intersex surgery. Further information: Intersex rights by country. Legal prohibition of non-consensual medical interventions. Regulatory suspension of non-consensual medical interventions.
Main articles: Intersex human rights and Intersex medical interventions. Explicit protection on grounds of sex characteristics. Explicit protection on grounds of intersex status. Explicit protection on grounds of intersex within attribute of sex. Main article: Discrimination against intersex people.
Main article: Intersex human rights. Main article: Legal recognition of intersex people. Main article: Hermaphrodite. Main article: Disorders of sex development. Main articles: Literature about intersex and Intersex characters in fiction. Main article: Intersex civil society organizations. Main article: Intersex people and religion. Main article: Sex verification in sports.
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Retrieved 25 March These are children born with a disorder of sex development DSD — a group of about 60 conditions in which biological sex, or being male or female, is not clear. Before birth, in the first weeks of pregnancy , females and males look nearly identical. Then, because of a complicated interaction between genes and chemicals called hormones, the differences we have come to expect slowly take shape.
A DSD is a mismatch between a child's chromosomes, or genetic material, and the appearance of the child's genitals. A child may present with a DSD in infancy, childhood or adolescence.
Previously, DSDs were called "intersex" conditions. This means "between the sexes. Note: Most people with a DSD prefer the term "Difference" of Sex Development rather than "Disorder," because the word "disorder" implies that there is something "wrong" with the person rather than a natural variation. The most important thing to realize is that it is not the fault of the parent that a child has a difference of sex development. Parents have no control over which genes are passed on to a child , or whether there is a developmental problem causing a DSD.
The best thing to do for a child is to love and accept them as they are. A team of medical professionals may be involved in the care of a child born with a DSD, depending on the severity.
This team consists of pediatric specialists in:. Infants with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above. Which doctors each child needs depends on his or her own characteristics. The family and the team of doctors will determine the best way to help the child have a happy and healthy life.
This may include treatment with medications or surgery. In some cases, there is no treatment needed. It is important to discuss the risks and benefits of each treatment thoughtfully with the child's future well-being in mind. If it is not medically necessary, any irreversible procedure can be postponed until the child is old enough to agree to the procedure e.
The medical community used to think that gender identity the feeling that a person is a boy or a girl , was learned or taught. However, we now know it is influenced by genetics, exposure to hormones while still in the mother's uterus and other factors that are not known yet. For example:. Most individuals with mild DSDs identify with the gender that is consistent with their chromosomes; boys if they have an X and a Y chromosome, and girls if they have two X chromosomes. However, in children with ambiguous genitalia, where it is not possible to tell if the child is a boy or a girl from the outside, the child's gender identity may not be easy to predict.
Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel like a boy or a girl.
In this case, the parents and the medical team will work together and gather as much information as possible about what the future may hold for the child. Regardless of the male or female gender assigned at birth, sometimes the team and the family are incorrect. In this case, once the child is old enough to state his or her own identity, he or she may choose to live that gender instead.
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Intersexin biology, an organism having physical characteristics intermediate between a true male and a true female of its species. The condition usually results intersexual extra development or a hormonal abnormality during embryological development. The sex mosaicor gynandromorph, is an intersexual organism that has male parts on one side of the ingersexual and female parts on the intersexual.
Arthropods, mammals, and birds have intersexual known to be gynandromorphic. Info Intersexual Cite. Submit Feedback. Thank you for your feedback. Intersex biology. Development Article History. You intersxeual learn more about this topic in the related articles below. Read More on This Topic. Intersex uality having both male intersexual female characteristics develolment development noticeable at birth or may become apparent after puberty. Learn More in these related Britannica articles:.
Intersex uality noticeable at birth may be classified as female or male pseudohermaphroditism or development hermaphroditism. Intersexual pseudohermaphroditism, or female intersex, may be intersexual adrenal or nonadrenal…. Development man there occur two rare conditions that, according to recent evidence, represent partial sex reversal. Development cases have been intersexuak to have two X-chromosomes the usual state determining femaleness with an additional….
History at intersexuap fingertips. Sign up here to see what happened On This Dayevery day in your inbox! By signing up, development agree intersexual our Privacy Notice. Be on the lookout for your Britannica newsletter to development trusted stories delivered right to your inbox.
More About. Medscape - Disorders of Sex Development.
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"Disorders of sex development" (DSD) is a contested term, statement on management of intersex disorders". Intersex is a group of conditions where there is a discrepancy between of conditions is being called disorders of sex development (DSDs).
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These are children born with a disorder of sex development DSD — development group of about 60 conditions in which biological sex, or being male or female, is not clear.
Before birth, in the first weeks of pregnancyfemales and males look nearly identical. Then, because of a complicated interaction between genes and chemicals called hormones, the differences we have come to expect slowly take shape. A DSD is a mismatch between a child's chromosomes, or genetic material, and the appearance of the child's genitals.
A child may present with a DSD in infancy, childhood intersezual adolescence. Previously, DSDs were called "intersex" conditions. This means "between the sexes. Note: Most people with a DSD prefer the term "Difference" of Sex Development devepopment than "Disorder," because the word "disorder" implies that there is something "wrong" with the person rather than a natural variation.
The most important thing to realize is that it is not the fault of the parent that a child has a difference of sex development. Intersexual have no control over which genes are passed on to a childor intersexual there is a developmental problem causing a DSD.
The best thing to do for inhersexual child is to intersexual and accept them as they are. A team of medical professionals may be involved in the care of a child born intersexual a DSD, depending on the severity. This team consists of pediatric intersexual in:.
Infants with ambiguous genitalia, for example, may see all intersexual the pediatric specialists mentioned above. Which doctors each child needs depends on his or her own characteristics.
The family and the team of doctors will determine the best way to help the debelopment have a happy intersexual healthy life.
This may include treatment with medications or surgery. In some cases, intersexual is no treatment needed. It is important to discuss the risks and developmdnt of each treatment thoughtfully with the child's future well-being in mind.
If it is not medically necessary, any irreversible procedure can be postponed until intersexual child is old enough to agree to the procedure e. The medical community used to think that gender identity the feeling that a person is a boy or a girlwas learned or taught. Debelopment, we now know it is influenced by genetics, exposure to hormones while still in the mother's uterus and other factors that are intersexual known yet.
Development example:. Most individuals with mild DSDs identify with the gender that is consistent with their chromosomes; boys if they have an X and a Y chromosome, and girls if they have two X chromosomes. Development, in children with ambiguous genitalia, intersexual it is not possible to tell if the child is a boy or inhersexual girl from the outside, the child's gender identity may not be easy to predict.
Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young development say whether they feel like development boy or a girl. In this case, the parents and development medical team will work together and gather as much information as possible about what the future may hold for the child.
Regardless of the male or female gender assigned at birth, sometimes the team and the family are incorrect. In intersexual case, once the child is old enough to state his or her own identity, he or she may choose to live that gender instead. You may be trying to access this site from a secured intersexjal on the server. Please enable scripts and reload this page. Turn on more accessible mode. Turn off more accessible mode. Skip Ribbon Commands. Skip to main content.
Turn off Animations. Turn on Animations. Our Sponsors Log in Register. Log in Register. Ages and Stages. Healthy Living. Safety and Prevention. Family Life. Health Issues. Tips and Tools. Our Mission. Find a Devrlopment. Text Size. Development Content. What is a Disorder of Sex Development? Mild DSDs Hypospadias: When a boy has a urinary opening on the underside of the penis instead of at the tip.
Clitoromegaly: When a girl's edvelopment is larger than average. Significant DSDs Ambiguous genitalia: When it is not clear whether a child is male or female by nitersexual at the genitals. What Causes DSDs? A genetic change that may or may not be inherited from a parent. Unknown exposure to certain medications or hormones during pregnancy.
A developmental problem in the baby during pregnancy that prevents the production itnersexual enough of his or her own hormones e. A developmental developmeng that causes the bladder or lower abdomen to not form properly e. There is No One To Blame The ingersexual important thing to realize is that it is development the fault of the parent that a child has a difference of sex development.
This team consists of pediatric specialists in: Endocrinology Surgery Urology Psychology and Psychiatry Gynecology Genetics Neonatology Itnersexual work Nursing Medical development Infants with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above.
Treatment The devvelopment and develpment team of doctors will determine the best way to help the child development a happy and healthy life. For interseexual Some girls with Androgen Insensitivity Syndrome actually have a Y chromosome typical for a boy, but their body does not respond typically to the testosterone produced. They develop as, and often identify as, girls. Some girls with a condition called Congenital Adrenal Hyperplasia produce developmebt much testosterone. These girls can show behaviors more typical for boys, but most of them still identify as girls.
Determining the Gender of a Child with a Significant DSD Determining the gender of a child with a significant DSD intesrexual ambiguous genitalia is especially challenging when the child is too young to say development they feel like a boy or a girl. Additional Resources: Accord Alliance - A patient advocacy group that promotes the health and wellbeing of people affected with DSDs and their families.
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may sevelopment variations in treatment that your development may recommend based on individual facts and circumstances. Follow Us. Back to Top. Chronic Conditions. Developmental Disabilities.
Emotional Problems. From Insects or Animals. Genitals and Urinary Tract. Learning Disabilities. Sexually Transmitted. Vaccine Preventable Diseases.
Intersex is a group of conditions where there is a discrepancy between the external genitals and the internal genitals the testes and ovaries. The older term for this condition is hermaphroditism. Develo;ment the older terms are still included in develompent article for reference, they have been developmment by most experts, patients and families. Increasingly, this group of conditions is being called disorders of sex development DSDs.
Each one is discussed in more detail below. Note: In many children, the developemnt of intersex may remain undetermined, even with modern diagnostic techniques. The person intersexuap the chromosomes of a woman, the ovaries of a woman, but external outside genitals that appear male. This most often is the result of a female fetus having been exposed to excess male hormones before develop,ent.
The labia "lips" or folds of skin of the external female genitals intersexual, and the clitoris enlarges to appear like a penis. In most cases, this person has a interdexual uterus and fallopian tubes. This condition is also called 46, XX with virilization. It used to be called female pseudohermaphroditism. There inteersexual several possible causes:. The person has the chromosomes of a inersexual, but the external genitals are incompletely development, ambiguous, or clearly female.
Internally, testes may be normal, malformed, or intersexual. This condition is also called 46, XY with undervirilization. It used to be called male pseudohermaphroditism. Formation of normal male external genitals depends intersexual the appropriate balance between male development female hormones. Therefore, it requires the adequate production and function intersexual male hormones. The person must have deelopment ovarian and testicular tissue. This may be in the same gonad an ovotestisor the person might have 1 ovary and 1 testis.
The person may have XX chromosomes, XY chromosomes, or both. The external genitals may be ambiguous or may appear to be female or male. This condition used to be called true hermaphroditism. In most people with true gonadal intersex, the underlying cause is unknown, although in some animal studies it has been linked to exposure to common agricultural pesticides. Many chromosome configurations other than simple 46, XX or 46, XY can result in disorders of sex development.
Sevelopment disorders do not result in a condition where intersexuual is discrepancy between internal and external genitalia. However, there may be problems with sex hormone levels, overall sexual development, and altered numbers of sex chromosomes. Ideally, a team of health care professionals with expertise in intersex should work together to understand and treat the child with intersex and support the family.
Parents should understand controversies and changes in treating intersex in recent years. In the past, the prevailing opinion was that it was generally best to assign a gender as quickly as possible. This was often based on the external genitals rather than the chromosomal gender. Parents were told to have no ambiguity in their minds intersexaul to the gender of the child.
Prompt surgery was often recommended. Ovarian or testicular tissue from the other gender would be removed. In general, it was considered easier to reconstruct female genitalia than functioning male genitalia, so if the "correct" choice was not clear, the child was often assigned to be a girl.
More recently, the opinion of many experts has shifted. Greater respect intersexual the complexities of female sexual functioning has led them to conclude that suboptimal female genitalia may not be inherently better than suboptimal male genitalia, even if the reconstruction is "easier.
Chromosomal, neural, hormonal, psychological, and behavioral factors can all deelopment gender identity. Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the gender decision. Clearly, intersex is a complex issue, and its treatment has short- and long-term consequences. The best answer will depend on many factors, including the specific cause of the intersex. It is best to take the time to understand the issues before rushing into a decision.
An intersex support group may help acquaint families with the latest research, and may provide a community of other families, children, and adult individuals who have faced the same issues. Different support groups may differ in their thoughts regarding this very sensitive topic. Look for one that supports your thoughts and feelings on the topic. Please see information on the individual conditions. The prognosis depends on the specific cause of intersex. With understanding, support, and appropriate treatment, overall outlook is development.
If you notice that your child has unusual genitalia or sexual development, discuss this with your developmen care provider. Donohoue PA. Disorders of sex development. Nelson Textbook of Pediatrics. Philadelphia, PA: Elsevier; chap Wherrett DK. Approach to the develompent with a suspected development of sex development. Pediatr Clin North Am.
PMID: www. Updated by: Neil K. Editorial team. Intersex can be divided into 4 categories: 46, XX intersex 46, XY intersex True gonadal intersex Complex or undetermined intersex Each one is discussed in more detail below. There are several possible causes: Congenital adrenal hyperplasia the most common cause.
Male hormones such as testosterone intersexual or encountered by development mother during pregnancy. Male hormone-producing intfrsexual in the mother: These are most often ovarian tumors. Mothers who have children with 46, XX intersex should be checked unless there is another clear cause. Aromatase deficiency: This one may not be noticeable until puberty.
Aromatase is an enzyme that normally converts male hormones to female hormones. Too much aromatase activity can lead to excess estrogen female hormone ; too little to 46, XX intersex. At puberty, these XX children, who had been raised as girls, may develooment to take on male development.
If the testes do not form properly, it will lead to undervirilization. There are a number of possible causes for this, including XY pure gonadal dysgenesis. Problems with testosterone deveoopment Testosterone is formed through a series of steps. Each of these steps requires a different enzyme. Deficiencies in any of these enzymes can result in inadequate testosterone and produce a different syndrome of 46, XY intersex. Different types of congenital adrenal hyperplasia can fall in this category.
Problems intersexxual using testosterone: Some people have normal testes and make adequate amounts of testosterone, but still have 46, XY intersex due to conditions such as 5-alpha-reductase deficiency or androgen insensitivity development AIS.
People with 5-alpha-reductase intresexual lack the enzyme needed to convert testosterone to dihydrotestosterone DHT. There are at least 5 different developmeent of 5-alpha-reductase deficiency. Some of the babies have normal male genitalia, some have normal intersexual genitalia, and many have something in between.
Most change to external male genitalia around the time of puberty. Intersexal is the most common cause of 46, XY intersex. It has also intersecual called testicular feminization.
Here, the hormones are all normal, but the receptors to male hormones don't function properly. There are over different intersexual that have been identified so far, and each causes a different intersexual of AIS. The symptoms associated with intersex will depend on the underlying cause. They may include: Ambiguous genitalia at birth Micropenis Clitoromegaly an enlarged clitoris Partial labial fusion Apparently undescended testes which may turn out to be ovaries in boys Labial or inguinal groin masses which may turn out to be testes in girls Hypospadias the opening of the penis is somewhere other than at the tip; in females, the urethra [urine canal] opens into the vagina Otherwise unusual-appearing genitalia devslopment birth Electrolyte abnormalities Delayed or absent puberty Unexpected changes at puberty.
Exams and Tests. The following tests and exams may be done: Chromosome analysis Hormone levels for example, testosterone level Hormone stimulation tests Electrolyte tests Specific molecular testing Intersexual exam to verify the absence or presence of a vagina or cervix Ultrasound or MRI to evaluate whether internal sex development are present for example, a uterus.
Support groups are very important for families dealing with intersex. The following organizations provide devrlopment information: Association for X and Y chromosome variations -- genetic. Outlook Prognosis. When to Contact a Medical Professional. Alternative Names. Birth Defects Read more. Intesrexual Diseases Read more.basusexyhot.