Intersex healthcare

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Intersex healthcare differs from the healthcare of endosex people due to stigma and potential complications arising from their bodily variations. [1] People with intersex variations, also called disorders in sex development, have hormonal, genetic, or anatomical differences unexpected of an endosex male or female. [2] 1.7% of the general population is estimated to be intersex. [3] [4] Healthcare for intersex people can include treatments for one's mental, cognitive, physical, and sexual health. The healthcare needs of intersex people vary depending on which variations they have. Intersex conditions are diagnosed prenatally, at birth, or later in life via genetic and hormone testing as well as medical imaging. [5]

Contents

Intersex healthcare has historically focused on patients fitting physical and social norms for one's sex. This includes concealing information from patients and medically unnecessary surgeries. [6] [7] Intersex organizations advocate to end these practices and make further changes to respect and include intersex people. Medical trauma, lack of research, and lack of access can hinder quality healthcare. The medicalization of intersex conditions and the use of the term 'disorders of sex development' are disputed.

Presentation and Diagnosis

Australia's National Health and Medical Research Council describes variations in sex characteristics, also called intersex or disorders in sex development, as referring to "people with innate genetic, hormonal, or physical sex characteristics that do not conform to medical norms for female or male bodies. It refers to a wide spectrum of variations to genitals, hormones, chromosomes and/or reproductive organs." [2] Intersex conditions can result in a combination of male and female structures, such as having both a womb and testes; atypical genital appearance, such as a closed vagina; or missing or underdeveloped reproductive organs, such as a vaginal opening with no womb. [8] Other characteristics include the presence of micropenis, hypospadias, uretha opening into the vagina, partly fused labia, large clitoris, electrolye imbalance, undescended testes for males, and masses in the labia or groin for females. [9] Some intersex conditions may result in genitals expected of one's sex, but differing chromosomes (having only an X chromosome, XXY chromosomes, etc.) [8]

Intersex variations are diagnosed using physical exams, genetic testing, hormonal testing, and medical imaging or laproscopy of internal structures. [5] [10] A diagnosis at the molecular genetic level such as genome sequencing is preferred for predicting prognosis, but is not always possible. [10] Intersex variations may become apparent at birth, during puberty, or while trying to conceive. [11] Intersex variations may cause a delay in puberty, absence of puberty, or bodily changes unexpected for one's perceived sex. [9] Genetic counsellors can help an intersex person or their family understand their diagnosis and its genetic impacts on health. [12] [13]

Some intersex variations can be detected before birth. Cell-free DNA screening can detect if a fetus has Turner syndrome or Klienfelter syndrome. [14] Ultrasounds may show ambigious gentalia or genitals that do not match what is expected based on the sex chromosomes found in the cell-free DNA test. [14] [15] [16] Preimplantation genetic diagnosis for those receiving in vitro fertilization can detect variations such as congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS). [17] 21-hydroxylase deficiency, also known as congenital adrenal hyperplasia 1, can be treated prenatally using dexamethasone to prevent ambiguous gentalia. [18] [19]

Medical characterization and nomenclature

The term 'disorders of sex development', often abbreviated as DSD, is contentious as some organizations and intersex advocates believe that being intersex should not be pathologized. For instance, Planned Parenthood describes being intersex as a "naturally occurring variation" rather than a medical problem. [20] Professor Elizabeth Reis supports changing disorders of sex development to divergence of sex development, writing that "using divergence, intersex people would not be labeled as being in a physical state absolutely in need of repair." [21]

Some parents of intersex children prefer the term 'disorders of sex development' because the term intersex evokes ideas of sexuality or that their child is a third gender rather than a boy or girl. [21] Some people with intersex variations prefer using DSD instead of intersex because they see their variation as a medical condition rather than an identity. [22] 60 percent of Australian intersex people prefer the term 'intersex' or a related term such as 'intersex variation', while 3 percent prefer the term 'disorder of sex development' outside of seeking medical care. [23]

The term 'intersex' has been criticized by clinicians and parents who believe the term only applies to those with ambiguous genitals or whose chromosomes and anatomy do not align. [22] Disagreement remains over which variations should be considered intersex. [24]

Healthcare needs

Physical health

Bone health is a common concern for intersex patients. For instance, people with complete androgen insensitivity syndrome (CAIS) have low bone density as a result of "decreased circulating estrogen and skeletal resistance to androgen action." [25] People with androgen insensitivity syndrome who have undergone a gonadectomy no longer produce endogenous hormones. [25] This necessitates the use of long term hormone therapy to maintain bone health. [26]

Turner syndrome, gonadal dysgenesis, Klinefelter syndrome and congenital adrenal hyperplasia also face issues with bone health, particularly osteopenia and osteoporosis. [27] [28] In Klinefelter syndrome and gonadal dysgenesis, this is caused by insufficient sex hormones. [27] In CAH, it is due to excessive adrenal androgen as well as lifelong treatment with glucocorticoid, a type of steroid. [27] [29] [30] Bone health is maintained through monitoring bone mineral density using dual-energy x-ray absorptiometry and providing hormone replacement therapy to prevent osteoporosis. [31] [32] [28]

Example of dual-energy x-ray absorptiometry scanner DEXA scanner in use ALSPAC.jpg
Example of dual-energy x-ray absorptiometry scanner

Hormone replacement serves additional purposes other than bone health. In those with CAH, steroids called mineralocorticoids help regulate salt and water in the body to prevent salt-wasting. [33] [34] In some intersex people, oestrogen or testosterone is needed to induce puberty. [35] This is important to help the body mature and develop secondary sex characters, to allow intersex people to develop alongside their peers, and prevent delayed intellectual, social, and emotional development. [35]

Some intersex variations are associated with an increased risk of cancer. Men with Klinefelter syndrome, especially, those with mosaicism, are at a higher risk of breast cancer mortality than endosex men. [36] Those with Swyer syndrome are at an increased risk of developing cancer, specifically germ cell tumors, if atypical gonads are not removed. [31] [37]

Gonadoblastomas are precancerous lesions that predominantly form in intersex people with gonadal dysgenesis and a Y chromosome. [38] This includes conditions such as Swyer syndrome or Turner syndrome with Y chromosome mosaicism. [39] [38] These cancer risks are addressed using genetic screening and performing a gonadectomy if necessary. [38]

The undescended testes of those with androgen insensitivity syndrome also pose a cancer risk. Those with complete androgen insensitivity syndrome have a 3.6 percent chance of developing a malignant tumor by age 25 and a 33 percent chance by age 50, though malignancy before adulthood is rare. [38] [40] In contrast, partial androgen insensitivity syndrome poses a higher cancer risks if undescended testes are present. [40] The risk for germ cell tumors from undescended testes is 15 to 50 percent, but the risk for scrotal testes is unknown. [38] Orchiectomy, removal of the testes, is a preventative treatment option for these cancer risks. [40] For those raised male with partial androgen insensitivity syndrome, a procedure to put the testes into the scrotum called an orchiopexy is done to lower the risk of malignancy. [40]

Some intersex variations are associated with metabolic and cardiovascular conditions. Those with XY DSD are more likely to be born with heart defects. [10] CAH is associated with hypertension, a higher body mass index, and insulin resistance. [41] [10] Intersex variations in sex chromosomes are associated with an increased risk of both type one and type two diabetes. [10]

Turner syndrome, one such chromosomal intersex variation, is also associated with hypertension. [32] 23 to 50 percent of those with Turner syndrome are born with congenital heart abnormalities. [42] According to the Journal of the American Heart Association, fetuses with confirmed or suspected Turner syndrome should receive a fetal echocardiogram. [42] Children born with Turner syndrome and accompanying heart abnormalities should receive care from a pediatric cardiologist. [42]

Those with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) type 2 can also be born with defects related to their hearing, vertebrae, upper urinary tract, and kidneys. [43] Doctors will check for congenital anomalies in patients with suspected MRKH by using MRI and/or transabdominal ultrasonography. [43]

Renal congenital anomalies can coincide with various intersex conditions. Those with androgen insensitivity syndrome may also have atypical kidneys or upper urinary tract. [10] Hypospadias may also be related to urinary tract anomalies, though data is conflicting. [10] [3] People with Herlyn-Werner-Wunderlich syndrome can be born with one kidney. [44] Urinary tract ultrasonography can be used to check for renal abnormalities in those with Herlyn-Werner-Wunderlich syndrome. [44]

Other types of congenital anomalies can occur as well. Most people born with campomelic dysplasia have a micrognathia, a small lower jaw, and laryngomalacia, floppy cartilage in the larynx that obstructs one's airway. [45] [46] Cleft palates are also present in most people born with the condition. [45] Cleft palates, severe laryngomalacia and micrognathia are treatable through surgery. [47] [48] [49]

Sexual health

Fertility varies depending on the intersex variations one has. For instance, people with Turner syndrome can become pregnant with donor eggs or, more rarely, become pregnant unassisted; in contrast, men with 46 XX are always infertile. [50] Fertility counseling is a desired option for intersex people and families. [51] This counseling can be provided by a clinician, though gaps in knowledge about intersex fertility are common. [51]

Procedures such as testicular sperm extraction, uterus transplantation, and in vitro fertilization can help some intersex people have children. [50] People with MRKH can produce children with a surrogate and in vitro fertilization of their own eggs. [52] This is because those with MRKH are lacking or have an underdeveloped uterus and vagina, but typically have fully formed ovaries. [52] Since 2015, uterus transplants have allowed women with MRKH to give birth without a surrogate. [10]

Intracytoplasmic sperm injection, a type of in vitro fertilization in which sperm is directly injected into an egg cell, is another tool for assisted reproduction. [53] It can help people with 5-alpha-reductase type 2 deficiency or Klinefelter syndrome to have children. [50] [54] It can also be used in some cases of ovotesticular DSD if the father is able to produce sperm and has not had his testes removed. [55] In vitro fertilization with donor eggs allows people with a uterus but no ovaries to give birth, such as in some cases of Swyer syndrome. [56] [31]

Dish used for intracytoplasmic sperm injection, a type of in vitro fertilization used in cases of male infertility Intracytoplasmic sperm injection.png
Dish used for intracytoplasmic sperm injection, a type of in vitro fertilization used in cases of male infertility

Cryopreservation is being developed as an option for intersex people whose testes are removed due to cancer risk or gender reassignment. [57] Prepubertal testicular tissue can be cryproserved and may have potential for fertility based on animal and human studies. [57] As of 2023, this approach remains experimental and it will produce biological offspring is still unclear. [58]

Females with Turner syndrome lose their eggs at an accelerated rate compared to endosex females; before they are born, the majority of their egg cells are apoptopic, or in the process of dying. [59] Most people with Turner syndrome experience early menopause by the time they reach adulthood. [59] In some cases, cryopreservation is used to maintain reproductive options. For those with Turner syndrome who experience sponanteous puberty and periods, primarily those with 45X/46XX mosaicism, eggs may be cryopreserved. [60] In 2022, the first successful live birth using this method on a mother with mosaic Turner syndrome was documented. [61] Cryopreservation of the ovarian tissue is still experimental as of 2023. [62]

Some intersex variations may result in increased risks of complications during pregnancy. Classic CAH is associated with higher risk of gestational diabetes. [52] [63] Those with classic CAH are at a higher risk of needing to deliver via cesarean section if they have previously undergone vaginoplasty. [52] [63] Those with CAH caused by 11-beta-hydroxylase deficiency often experience hypertension, and thus should receive care from cardiology specialists during pregnancy. [52] Sixty pecent of women with Turner syndrome who become pregnant via egg donation experience complications such as pre-eclampsia, preterm birth, and intrauterine growth restriction. [64] There is also a risk of death for the mother due to root aortic dilation, or the ballooning of the large artery sending blood from the heart. [64] [65] This can result in aortic dissection, the splitting of the aorta's walls causing blood to leak. [64] [65] Women with Turner syndrome should be informed of this risk, undergo cardiac review prior to pregancy, and receive care from a multidisciplinary team while pregnant. [64]

Some intersex people are more likely to experience sexual dissatisfaction or difficulty in sexual functioning. For example, 39.3 percent of men with Klinefelter syndrome and 37.1 to 44.1 percent of women with XY DSD are unsatisfied to very unsatisfied with their sex life compared to 20.8 percent of the general population. [66] This is not universal across all intersex conditions as those with Turner syndrome and CAH report sex life satisfaction closer to that of the general population. [66]

Some intersex conditions are associated with genital dissatisfaction due to concerns about penile length, vaginal length, size of clitoris, etc. [66] Intersex people who have undergone genital surgery may experience reduced sexual sensation and functioning as a result. [67] Young intersex people often experience sexual anxiety, and a quarter of intersex adults have not been in a romantic or sexual relationship. [68]

According to a research paper in Obstetrics & Gynecology, intersex patients should be offered psychological support or sex therapy if they express anxiety about sexual function or fear of intimacy. [69] A sexologist can be included in a multidisciplinary team to help address sexual health concerns. [66] Hormone replacement therapy is used to maintain sexual functioning for some intersex conditions such as ovotesticular DSD. [70] For those with CAIS who have had a gonadectomy, androgen substitution can prove better for sexual well-being and ability to orgasm than oestrogen. [40]

Mental health

Intersex people are at a high risk of developing mental health disorders. A review of 18 studies found that intersex people were more likely to have depressive and anxiety disorders. [71] A survey of intersex adults in the U.S. found that respondents 61.1 percent reported having depressive disorders compared to 19 percent of the general adult population. [72] PTSD was also reported by 40.9 percent of those surveyed. [72]

Surgeries on intersex people as infants can be a cause of trauma. Scarring, infertility, and other health issues caused by such surgeries can result in shame, gender dysphoria, sexual dysfunction and feeling betrayal or devalued. [73] Stressful diagnosis procedures and medical treatments can feel like a challenge to one's gender identity, contributing to psychological distress and stigmatization. [71] Intersex students are often the target of abuse at school, especially in bathrooms and changing rooms. [74] Students whose appearance do not fit expected gender norms are at even greater risk of mistreatment. [74] Intersex students are often told to keep medical treatments secret by family members or clinicians, leading to further isolation and untreated trauma. [74]

Intersex people are at an increased risk of suicidality; in a European study, 6.8 percent of intersex people age 16 or older reporting attempted suicide compared to 1.8 percent in the control group. [75] Intersex people are more likely to experience suicidal thoughts as well. [71] Intersex people can face issues that worsen their mental health such as stigma and discrimination, bullying, family rejection, tension with partners about fertility, etc. [76] [68]

It is not uncommon for intersex people born with ambiguous sex characteristics to experience gender dysphoria. A 2021 meta analysis found that 15 percent of intersex people born with ambiguous sex characteristics experience gender dysphoria in adolescence or adulthood. [77] Patients with 5-alpha-reductase deficiency and 17-hydroxysteroid dehydrogenase deficiency have the highest prevalence of gender dysphoria, while those with CAH have the lowest prevalence. [77]

Those with intersex variations should have a psychiatrist or psychologist working with a multidisciplinary team. [78] Mental health professionals can aid intersex people when making choices about hormone treatments, gender assignment, gender reassignment, and surgeries. [78] Psychotherapy can also be used to support self-acceptance. [79] Psychological support for parents and family members helps reduce harm to an intersex child. This support helps by educating family against misconceptions about intersex variations, as well as encouraging parents to share age-appropriate information with their child. [80] This aids in preventing secrecy about the child's intersex status. [80]

Findings suggest peer support for intersex people and their parents can positively contribute to their well being, though robust evidence is lacking. [76] [81] Trained facilitators are able to help participants process health information. [81] The added social support mitigates isolation as well. [81] Accessing peer support can prove difficult due to lack of referrals. [81]

Cognitive health

Some intersex variations can impact cognitive and social functioning. Rates of autism symptoms are higher in intersex people. A survey of European intersex adults finding a 9.1 percent prevalence, compared to 1 percent in the general adult population. [82] This percentage differs depending on the particular intersex variation, with those with Klinefelter syndrome having the highest autism symptom prevalence of the variations measured. [82]

Intersex people have no significant difference in intelligence quotient compared to endosex people. [83] Other cognitive differences depend on the particular variation. Females with Turner syndrome are more likely to be diagnosed with attention deficit disorder, can struggle with social competence in both childhood and adulthood, and can have visuospatial deficits that negatively impact math ability. [84] [85] Those with Klinefelter syndrome are likely to experience language issues. 70 to 80 percent of males with Klinefelter syndrome experience language difficulties at an early age; impairments in verbal fluency and confrontation naming have been found in adolescents and adults. Reading difficulties are similarly common in children and adults with Klinefelter syndrome. [86]

A psychologist should be consulted to assess learning difficulties if they are present. [87] [32] Academic accommodations, tutoring, or other forms of support may be equipped to help those with cognitive impairments. [85] [87] Psychiatric interventions and other supports may be needed throughout one's life to help with difficulties in executive and cognitive functioning. [76] Mental health issues may be the main cause of executive function issues, as a comparison of intersex and endosex people found that there was no significant difference in executive function when adjusting for mental health. [83]

History

Intersex conditions have been documented since antiquity, and began to be studied by doctors in the late 1800s. [88] Medical professionals in Great Britain, France, and the U.S. began searching for definitive markers to determine what was thought to be the intersex person's true sex. [88] These determinants were used to inform the patient of their true sex with the expectation that the patient would subsequently change to fit social norms. [88]

The term "intersexuality" was created in 1915 by German biologist Richard Goldschmidt. [89] He came up with the term while studying sphynx moths with sex characteristcs between male and female. [90] [89] The term was adopted for pediatric use until 2005. [89]

How the term intersex was coined.jpg
Richard Goldschmidt's 1915 article using the term "intersexuality"

In the 1930s, surgeries intended to correct the genitals of intersex people were developed and became a standard treatment. [6] [91] At the time, surgeon Lennox Ross Broster described that corrective surgery would cause patients to "lose their acquired male characters, and revert to their normal feminine ones...[and] return to normal sexuality psychologically." [91] In the 1940s, boundaries were created to separate those who had physical intersex variations, and those who desired sex reassignment without physical variations. [91] This served to provide surgical procedures only to intersex people, while directing transgender people towards psychological services. [91]

In the 1950s, John Money theorized that children were gender neutral until the age of two, and gender could be assigned based on how a child was raised. [6] [91] This further pushed surgeries for intersex people, young children in particular. [6] Clinicians often hid that a child was intersex both from patients and their parents. [6]

That same decade, medical advances emerged to evaluate a fetus' sex and birth defects such as ultrasound, amniocentesis, and the discovery of the HLA system and its role in pregnancy. [92] [93] As technologies advanced, clinicians became able to detect intersex conditions such as congenital adrenal hyperplasia and Turner syndrome before the birth of the child. [32] [94]

During the 1990s, intersex activists challenged the use of corrective genital surgery and the stigma around intersex variations. [95] [96] Feminists used the term "intersex" while critizing Johns Hopkins medical policy for using gender norms to make predictions about the gender of intersex infants and medically alter their bodies to fit those norms. [97]

In 2005, the European Society for Paediatric Endocrinology and the Wilkins Pediatric Endocrine Society held a conference with 50 international experts and two intersex participants decide which term should be used to refer to people with intersex variations. [21] The term disorders of sex development, abbreviated as DSD, was chosen. [21] In a 2006 consensus statement, the adoption of the term DSD was purposed. [78] [22] Since then, the term DSD has replaced intersexuality in pediatric use. [89]

Barriers to care

Medical trauma

Many intersex patients have gone through negative medical experiences including childhood genital surgery, having their medical history hidden from them, pathologization of intersex variations, and genital examinations and photography. [98] [99] [100] Some treatments and behaviors have been described as medicalized rape. [101] According to the NNID Foundation, an intersex organization in the Netherlands,

"These actions [of medicalized rape and sexual violence] include: grooming behaviour, provoking sexual arousal without consent sometimes even on small children, construction of vagina's on children and teens that require insertion of penis-shaped objects [vaginal dilation], repeated observing and examining genitals far beyond any level needed to provide care, but rather out of personal interest, and producing photographs and video's of intersex genitals without consent and spreading these images without restrictions." [101]

These experiences negatively impact the well-being of intersex people. Vaginal dilation and surgeries early in life cause physical and psychological trauma. [99] Nonconsensual surgeries can contribute to healthcare avoidance and medical distrust among intersex people, causing them to delay receiving preventative or emergency care. [102]

Lack of quality data

Data is often collected from populations using either sex or gender, but not both. [103] This results in problems when collecting data from intersex people. [103] Uncertainty in how to answer can result in data being miscollected. [103] Assumptions underlying questions about sex, such as expecting a respondent's sex traits not to vary from their answer, can lead to misuse of data. [103] These issues in data collection negatively impacts the healthcare of intersex people as some tests and medical treatments are affected by one's sex. [103] In some cases, data on intersex people may not be collected at all. Data systems supported or led by the Center for Disease Control and Prevention between 2015 and 2018 collected no data on intersex conditions. [104]

There is a lack of research into the general health, mental health, and cancer risks of intersex people. [105] Intersex people often are not studied in the field of toxicology, making risk assessment for intersex patients difficult. [106] Anesthesiology also under-represents intersex patients. A cross sectional analysis in 2016 found that of 709 studies from major anesthesiology journals, none included intersex participants. [107] [108] Additionally, there is lack of research in fertility preservation for intersex patients due to the larger focus on creating a normative sex presentation. [109]

Inaccessibility

Intersex patients have better outcomes when receiving specialized care. [110] When intersex patients reach adulthood, they can experience difficulty finding specialized care for their variations; this is in part due to a lack of adult specialists with significant training about intersex conditions. [10] A small study in the Journal of General Internal Medicine found that 28 percent of adult intersex participants had difficulty accessing specialist care. [111]

Intersex patients and their families frequently experience a lack of psychological support. According to a study in the European Journal of Pediatrics, 40.4 percent of parents of intersex children requested psychological support, half of whom received it. [112] When psychologists are included within multidisciplinary care teams for intersex patients, they often feel their role is marginalized by their peers. [113] Family members of intersex children may feel a being recommended a psychologist implies they are not performing their role in the family well. [114] Intersex patients and caretakers may also have negative perceptions about therapy, finding it taboo or unpleasant. [114]

Intersex people desiring psychological support may not be offered such services. The study from the Journal of General Internal Medicine found that majority of intersex patients had not been offered psychological counseling, and 27 percent reported not being offered counseling while having an unmet need for it. [111] Intersex children can have difficulty finding support at school as well. There are no standards for educational psychologists or counselors supporting intersex children, and peers are not properly educated about intersex people. [113]

Intersex patients experience issues accessing sexual health and affirming doctors. A survey from the United Kingdom's Government Equalities Office found that 11 percent of intersex participants reported that it was difficult to access sexual healthcare compared to 5 percent of endosex LGBT participants. [115] In addition, 6 percent of intersex people reported that their general practitioner was unsupportive compared to 2 percent of endosex LGBT people. [115]

It is difficult for elderly intersex people to find providers capable of meeting their needs. [116] They may fear living in retirement communities due to potential intolerance from other residents. [117] Elderly intersex people can feel concerned about home care as well; they may fear caretaker abuse due to their intersex variation or surgical changes to their body. [117]

Advocacy

Protesters calling for an end to intersex surgery at a pride demonstration Pride demonstration Berlin 2020-06-27 58.jpg
Protesters calling for an end to intersex surgery at a pride demonstration

Intersex and human rights organizations advocate against medically unnecessary genital surgeries on young children. [118] [119] Deferral of procedures is promoted whenever possible so patients are old enough to provide consent. [120] Clinician advocates have worked with professional organizations to write position statements in support of deferring non-essential genital surgery until a child is older. [6] [121]

Advocates promote patient-centered care rather than procedures to ease parents. [6] [121] Intersex organizations and clinician advocates both promote mental health support of intersex people as a key part of intersex healthcare. [121] [6] Other changes supported by intersex advocates include ensuring intersex patients have access to medical records, acquiring government reparations for those who have received medically unnecessary surgery or demeaning treatment, and holding doctors who have given such treatment legally accountable. [120] [122]

Ensuring intersex people are respected in medical settings is another priority for intersex rights. Lambda Legal and InterACT support hospitals adding language to their patients' bill of rights to explicitly state the rights to nondiscrimination, privacy, and respect for intersex people receiving care. [123] Advocates also support educating medical staff about respect and privacy for intersex patients; this is meant to protect their physical integrity and autonomy. [120]

Another initiative in intersex advocacy is high quality and respectful research about intersex people. Common research issues cited by advocates include focusing predominantly on children instead of adults, making assumptions about intersex people having other LGBT identities, framing intersex as a gender, researchers' lack of understanding on intersex issues, and representing data as LGBTI data despite not having a significant number of intersex participants. [124] [125] Organizations such as InterACT and Intersex Human Rights Australia provide guidance and encourage researchers to contact them early in a studies design process. [126] [124]

See also

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Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. DSDs is a clinical term used in some medical settings for what are otherwise referred to as intersex traits. The term was first introduced in 2006 and has not been without controversy.

<span class="mw-page-title-main">Klinefelter syndrome</span> Human chromosomal condition

Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles. These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital.

<span class="mw-page-title-main">Complete androgen insensitivity syndrome</span> Medical condition

Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development in those with the condition.

<span class="mw-page-title-main">Intersex</span> Atypical congenital variations of sex characteristics

Intersex people are individuals born with any of several sex characteristics, including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies".

<span class="mw-page-title-main">Genetic diagnosis of intersex</span>

Intersex people are born with natural variations in physical and sex characteristics including those of the chromosomes, gonads, sex hormones, or 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". Such variations may involve genital ambiguity, and combinations of chromosomal genotype and sexual phenotype other than XY-male and XX-female. Preimplantation genetic diagnosis allows the elimination of embryos and fetuses with intersex traits and thus has an impact on discrimination against intersex people.

<span class="mw-page-title-main">Eric Vilain</span> French-American physician-scientist

Eric Vilain is a physician-scientist and professor in the fields of differences of sex development (DSDs) and precision medicine. He is the Associate Vice Chancellor for Scientific Affairs at the University of California, Irvine Health Affairs and also the director of the UCI Institute for Clinical and Translational Science. He previously was the director of the Center for Genetic Medicine Research at Children's National Medical Center and the chair of the Department of Genomics and Precision Medicine at the George Washington University School of Medicine & Health Sciences in Washington, D.C. Vilain is a fellow of the American College of Medical Genetics, serves on the International Olympic Committee's Medical Commission, and sits on the Board of Scientific Counselors for the National Institute of Child Health and Human Development (NICHD).

Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). Afterwards, if the family or individual wishes, they can partake in different management and treatment options for their conditions. Many intersex people are engaged in activism to stop such treatments, citing the extreme and harmful nature of many of the treatments, further arguing that many of the treatments serve no medical purpose.

<span class="mw-page-title-main">Definitions of intersex</span>

Various criteria have been offered for the definition of intersex, including ambiguous genitalia, atypical genitalia, and differential sexual development. Ambiguous genitalia occurs in roughly 0.05% of all births, usually caused by masculinization or feminization during pregnancy, these conditions range from full androgen insensitivity syndrome to ovotesticular syndrome.

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