Preimplantation genetic diagnosis
Preimplantation genetic diagnosis (PGD or PIGD) refers to genetic evaluation of embryos and oocytes prior to implantation. When used to screen for a specific genetic condition, the method also makes it possible to select embryos with intersex conditions for termination. Some national authorities, such as the UK Human Fertilization and Embryology Authority, maintain lists of conditions for which PGD is permissible, including intersex conditions such as 5 alpha reductase deficiency, androgen insensitivity syndrome, congenital adrenal hyperplasia and others. [5]
Surgical interventions on children with intersex conditions are contentious and may lead to selection for other traits like same sex attraction. [6] Robert Sparrow states that intersex conditions are comparable to sexual orientation in that harms may be associated with a "hostile social environment". He concluded that the acceptability of elimination of intersex conditions has "uncomfortable" implications for "other nonpathological human variations" that do not affect physical health. [6]
Organisation Intersex International Australia has quoted research showing pregnancy termination rates of up to 88% in 47,XXY even while the World Health Organization describes the trait as "compatible with normal life expectancy", and "often undiagnosed". [7] [8] In 2014, it called for the Australian National Health and Medical Research Council to prohibit such interventions, noting a "close entanglement of intersex status, gender identity and sexual orientation in social understandings of sex and gender norms, and in medical and medical sociology literature". [9] In 2016, the organization wrote about the sponsorship of lesbian, gay, bisexual, transgender and intersex (LGBTI) events by IVF clinics in Australia, stating that, in addition to ethical issues raised by the elimination of intersex traits, "sponsorship of "LGBTI" events by such businesses raises more ethical issues still, including the nature of community and comprehension of issues relating to intersex bodily diversity". [10]
In response to Sparrow, Georgiann Davis argues that such discrimination fails to recognize that many people with intersex traits led full and happy lives, and that the "intersex community is only "invisible" to those who choose to ignore it", while "the medical profession, not the intersex trait itself, is a major source of the social and psychological harm that perpetuates intersex stigmatization and the "hostile social environment" that individuals with intersex traits encounter". [11] Jeff Nisker links the elimination of intersex conditions to their pathologization, describing how "[o]nce a difference becomes a medical disorder to which the medical profession is dedicating time and resources to prevent, procedures to this end become endowed with appropriateness". [12]
Jason Behrmann and Vardit Ravitsky state: "Parental choice against intersex may ... conceal biases against same-sex attractedness and gender nonconformity." [13] In 2014, Morgan Carpenter expressed concern about intersex variations appeared in a list by the Human Fertilisation and Embryology Authority of "serious" "genetic conditions" that may be de-selected in the United Kingdom. [14] [5] These include 5-alpha-reductase deficiency and androgen insensitivity syndrome, traits evident in elite Olympic-level women athletes and "the world's first openly intersex mayor". [14] [15]
In 2015, the Council of Europe published an Issue Paper on Human rights and intersex people, remarking on a right to life:
Intersex people's right to life can be violated in discriminatory "sex selection" and "preimplantation genetic diagnosis, other forms of testing, and selection for particular characteristics". Such de-selection or selective abortions are incompatible with ethics and human rights standards due to the discrimination perpetrated against intersex people on the basis of their sex characteristics. [16]
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids, and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. It is one of the most common autosomal recessive disorders in humans.
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens.
Sex assignment is the discernment of an infant's sex, usually at birth. Based on an inspection of the baby's external genitalia by a relative, midwife, nurse, or physician, sex is assigned without ambiguity in 99.95% of births. In the remaining cases, additional diagnostic steps are required and sex assignment is deferred. Sex also may be determined prior to birth through prenatal sex discernment.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia (CAH), and CAH in most contexts refers to 21-hydroxylase deficiency and different mutations related to enzyme impairment have been mapped on protein structure.
Intersex medical interventions, also known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the likelihood of future problems. The history of intersex surgery has been characterized by controversy due to reports that surgery can compromise sexual function and sensation, and create lifelong health issues. Timing, evidence, necessity and indications for surgeries in infancy, adolescence or adult age have been controversial, associated with issues of consent.
The history of intersex surgery is intertwined with the development of the specialities of pediatric surgery, pediatric urology, and pediatric endocrinology, with our increasingly refined understanding of sexual differentiation, with the development of political advocacy groups united by a human qualified analysis, and in the last decade by doubts as to efficacy, and controversy over when and even whether some procedures should be performed.
Clitoromegaly is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though deliberately induced clitoris enlargement as a form of genital body modification is achieved through various uses of anabolic steroids, including testosterone. Clitoromegaly is not the same as normal enlargement of the clitoris seen during sexual arousal.
Hyperandrogenism is a medical condition characterized by high levels of androgens. It is more common in women than men. Symptoms of hyperandrogenism may include acne, seborrhea, hair loss on the scalp, increased body or facial hair, and infrequent or absent menstruation. Complications may include high blood cholesterol and diabetes. It occurs in approximately 5% of women of reproductive age.
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.
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".
Rebecca M. Jordan-Young, is an American feminist scientist and gender studies scholar. Her research focuses on social medical science, sex, gender, sexuality, and epidemiology. She is an Associate Professor of Women’s, Gender, and Sexuality Studies at Barnard College.
Alice Domurat Dreger is an American historian, bioethicist, author, and former professor of clinical medical humanities and bioethics at the Feinberg School of Medicine, Northwestern University, in Chicago, Illinois.
Anne Tamar-Mattis is an American attorney, human rights advocate, and founder of interACT. She currently serves as interACT's Legal Director.
Fixing Sex: Intersex, Medical Authority, and Lived Experience, a book by Stanford anthropologist and bioethicist Katrina Karkazis, was published in 2008. Described as "thoughtful", "meticulous", and an "authoritative treatise on intersex", the book examines the perspectives of intersex people, their families, and clinicians to offer compassionate look at the treatment of people born with atypical sex characteristics.
Georgiann Davis is an associate professor of sociology at the University of New Mexico and author of the book Contesting Intersex: The Dubious Diagnosis. Davis formerly held similar positions at University of Nevada, Las Vegas and Southern Illinois University Edwardsville. Born with Androgen Insensitivity Syndrome, she writes widely on intersex issues and the sociology of diagnosis.
Katrina Alicia Karkazis is an American anthropologist and bioethicist. She is a professor of Sexuality, Women's and Gender Studies at Amherst College. She was previously the Carol Zicklin Endowed Chair in the Honors Academy at Brooklyn College, City University of New York and a senior research fellow with the Global Health Justice Partnership at Yale University. She has written widely on testosterone, intersex issues, sex verification in sports, treatment practices, policy and lived experiences, and the interface between medicine and society. In 2016, she was jointly awarded a Guggenheim Fellowship with Rebecca Jordan-Young.
Intersex people are born with sex characteristics that "do not fit the typical definitions for male or female bodies". They are substantially more likely to identify as lesbian, gay, bisexual, or transgender (LGBT) than the non-intersex population, with an estimated 52% identifying as non-heterosexual and 8.5% to 20% experiencing gender dysphoria. Although many intersex people are heterosexual and cisgender, this overlap and "shared experiences of harm arising from dominant societal sex and gender norms" has led to intersex people often being included under the LGBT umbrella, with the acronym sometimes expanded to LGBTI. Some intersex activists and organisations have criticised this inclusion as distracting from intersex-specific issues such as involuntary medical interventions.
Intersex people in the United States have some of the same rights as other people, but with significant gaps, particularly in protection from non-consensual cosmetic medical interventions and violence, and protection from discrimination. Actions by intersex civil society organizations aim to eliminate harmful practices, promote social acceptance, and equality. In recent years, intersex activists have also secured some forms of legal recognition. Since April 11, 2022 US Passports give the sex/gender options of male, female and X by self determination.
Intersex people in the United Kingdom face significant gaps in legal protections, particularly in protection from non-consensual medical interventions, and protection from discrimination. Actions by intersex civil society organisations aim to eliminate unnecessary medical interventions and harmful practices, promote social acceptance, and equality in line with Council of Europe and United Nations demands. Intersex civil society organisations campaign for greater social acceptance, understanding of issues of bodily autonomy, and recognition of the human rights of intersex people.
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia, is a milder form of congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.
