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]
Prenatal hormone treatment
Currently, prenatal testing and hormone treatment to prevent the physical and behavioral expression of intersex traits is available. [17] [18] [19] In 1990, a paper by Heino Meyer-Bahlburg titled Will Prenatal Hormone Treatment Prevent Homosexuality? was published in the Journal of Child and Adolescent Psychopharmacology. It examined the use of "prenatal hormone screening or treatment for the prevention of homosexuality" using research conducted on foetuses with congenital adrenal hyperplasia and other traits. [20]
Alice Dreger, Ellen Feder, and Anne Tamar-Mattis describe how research published by Saroj Nimkarn and Maria New in 2010 constructs "low interest in babies and men – and even interest in what they consider to be men's occupations and games – as "abnormal", and potentially preventable with prenatal dexamethasone". [17] The authors state that "weak and unsupported conclusions" of investigations into the attempted "prevention of benign behavioral sex variations" indicates gaps in the ethical management of clinical research. [21]
In 2012, Hirvikoski and others described a lack of long-term follow-up studies of individuals exposed to prenatal treatment, and the results of a 10-year Swedish study of 43 mothers and children. The authors found evidence of unacceptable side-effects in their study, including neurological consequences. Treatment with dexamethasone was discontinued in Sweden. [18]
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.
Preimplantation genetic diagnosis is the genetic profiling of embryos prior to implantation, and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty. The cause is a lack or inactivation of an SRY gene which is responsible for sexual differentiation. Pregnancy is sometimes possible in Swyer syndrome with assisted reproductive technology. The phenotype is usually similar to Turner syndrome (45,X0) due to a lack of X inactivation. The typical medical treatment is hormone replacement therapy. The syndrome was named after Gerald Swyer, an endocrinologist based in London.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands.
Intersex medical interventions (IMI), sometimes 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. The medical interventions can be for a variety of reasons, due to the enormous variety of the disorders of sex development. Some disorders, such as salt-wasting disorder, can be life-threatening if left untreated.
New eugenics, also known as liberal eugenics, advocates enhancing human characteristics and capacities through the use of reproductive technology and human genetic engineering. Those who advocate new eugenics generally think selecting or altering embryos should be left to the preferences of parents, rather than forbidden. "New" eugenics purports to distinguish itself from the forms of eugenics practiced and advocated in the 20th century, which fell into disrepute after World War II.
Clitoromegaly is an abnormal enlargement of the clitoris that is mostly congenital; it is otherwise acquired through deliberately induced clitoral enlargement e.g. body modification by use of anabolic steroids, including testosterone. It can happen as part of a gender transition. It is clinically distinguishable from normal enlargement of the clitoris seen during sexual arousal.
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.
Joseph Daniel Schulman is an American physician, medical researcher, and biomedical entrepreneur in the fields of genetic diseases and human reproduction.
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.
Maria Iandolo New(1928-2024) was a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City. She is an expert in congenital adrenal hyperplasia (CAH), a genetic condition affecting the adrenal gland that can affect sexual development.
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.
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 endosex people. According to a study done in Australia of Australian citizens with intersex conditions, participants labeled 'heterosexual' as the most popular single label with the rest being scattered among various other labels. According to another study, an estimated 8.5% to 20% experiencing gender dysphoria. Although many intersex people are heterosexual and cisgender, and not all of them identify as LGBTQ+, 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.
