Genetic diagnosis of intersex

Intersex people are born with 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".[1][2] Such variations may involve genital ambiguity, and combinations of chromosomal genotype and sexual phenotype other than XY-male and XX-female.[3][4] Preimplantation genetic diagnosis allows the elimination of embryos and fetuses with intersex traits and thus has an impact on discrimination against intersex people.

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] Though elimination of those identified prenatally to be intersex may be morally permissible, 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]

See also


  1. UN Committee against Torture; UN Committee on the Rights of the Child; UN Committee on the Rights of People with Disabilities; UN Subcommittee on Prevention of Torture and other Cruel Inhuman or Degrading Treatment or Punishment; Juan Méndez, Special Rapporteur on torture and other cruel inhuman or degrading treatment or punishment; Dainius Pῡras, Special Rapporteur on the right of everyone to the enjoyment of the highest attainable standard of physical and mental health; Dubravka Šimonoviæ, Special Rapporteur on violence against women its causes and consequences; Marta Santos Pais, Special Representative of the UN Secretary-General on Violence against Children; African Commission on Human and Peoples' Rights; Council of Europe Commissioner for Human Rights; Inter-American Commission on Human Rights (October 24, 2016), "Intersex Awareness Day – Wednesday 26 October. End violence and harmful medical practices on intersex children and adults, UN and regional experts urge", Office of the High Commissioner for Human Rights
  2. "Free & Equal Campaign Fact Sheet: Intersex" (PDF). United Nations Office of the High Commissioner for Human Rights. 2015. Retrieved 28 March 2016.
  3. Money, John; Ehrhardt, Anke A. (1972). Man & Woman Boy & Girl. Differentiation and dimorphism of gender identity from conception to maturity. USA: The Johns Hopkins University Press. ISBN 978-0-8018-1405-1.
  4. Domurat Dreger, Alice (2001). Hermaphrodites and the Medical Invention of Sex. USA: Harvard University Press. ISBN 978-0-674-00189-3.
  5. Human Fertilisation & Embryology Authority, PGD conditions licensed by the HFEA, retrieved 2018-02-17
  6. Sparrow, Robert (October 2013). "Gender Eugenics? The Ethics of PGD for Intersex Conditions". The American Journal of Bioethics. 13 (10): 29–38. doi:10.1080/15265161.2013.828115. ISSN 1526-5161. PMID 24024804.
  7. Radicioni, A F; Ferlin, A; Balercia, G; Pasquali, D; Vignozzi, L; Maggi, M; Foresta, C; Lenzi, A (2010). "Consensus statement on diagnosis and clinical management of Klinefelter syndrome". Journal of Endocrinological Investigation. 33 (11): 839–850. doi:10.1007/BF03350351. PMID 21293172.
  8. "Gender and Genetics". World Health Organization Genomic resource centre. Retrieved April 22, 2014.
  9. Carpenter, Morgan; Organisation Intersex International Australia (April 30, 2014). Submission on the Review of Part B of the Ethical Guidelines for the Use of Assisted Reproductive Technology in Clinical Practice and Research, 2007. Organisation Intersex International Australia (Report). Sydney.
  10. Organisation Intersex International Australia (July 10, 2016). "LGBTI sponsorship and the elimination of intersex traits". Retrieved 2017-07-02.
  11. Davis, Georgiann (October 2013). "The Social Costs of Preempting Intersex Traits". The American Journal of Bioethics. 13 (10): 51–53. doi:10.1080/15265161.2013.828119. ISSN 1526-5161. PMID 24024811.
  12. Nisker Jeff (2013). "Informed Choice and PGD to Prevent "Intersex Conditions"". The American Journal of Bioethics. 13 (10): 47–49. doi:10.1080/15265161.2013.828125. PMID 24024809.
  13. Behrmann, Jason; Ravitsky, Vardit (October 2013). "Queer Liberation, Not Elimination: Why Selecting Against Intersex is Not "Straight" Forward". The American Journal of Bioethics. 13 (10): 39–41. doi:10.1080/15265161.2013.828131. ISSN 1526-5161. PMID 24024805.
  14. Carpenter, Morgan (July 18, 2014). "Morgan Carpenter at LGBTI Human Rights in the Commonwealth conference". Glasgow. Cite journal requires |journal= (help)
  15. Rebecca Jordan-Young; Peter Sonksen; Katrina Karkazis (2014). "Sex, health, and athletes". BMJ. 348: g2926. doi:10.1136/bmj.g2926. PMID 24776640.
  16. Council of Europe; Commissioner for Human Rights (April 2015), Human rights and intersex people, Issue Paper
  17. Nimkarn, Saroj; New, Maria I. (April 2010). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Annals of the New York Academy of Sciences. 1192 (1): 5–11. doi:10.1111/j.1749-6632.2009.05225.x. ISSN 1749-6632. PMID 20392211.
  18. Hirvikoski, Tatja; Nordenström, Anna; Wedell, Anna; Ritzén, Martin; Lajic, Svetlana (June 2012). "Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint". The Journal of Clinical Endocrinology & Metabolism. 97 (6): 1881–1883. doi:10.1210/jc.2012-1222. ISSN 0021-972X. PMID 22466333.
  19. Meyer-Bahlburg, H. F. L. (1 June 1999). "What Causes Low Rates of Child-Bearing in Congenital Adrenal Hyperplasia?". The Journal of Clinical Endocrinology & Metabolism. 84 (6): 1844–1847. doi:10.1210/jcem.84.6.5718. PMID 10372672.
  20. Meyer-Bahlburg, Heino F.L. (January 1990). "Will Prenatal Hormone Treatment Prevent Homosexuality?". Journal of Child and Adolescent Psychopharmacology. 1 (4): 279–283. doi:10.1089/cap.1990.1.279. ISSN 1044-5463.
  21. Dreger, Alice; Feder, Ellen K.; Tamar-Mattis, Anne (September 2012). "Prenatal Dexamethasone for Congenital Adrenal Hyperplasia: An Ethics Canary in the Modern Medical Mine". Journal of Bioethical Inquiry. 9 (3): 277–294. doi:10.1007/s11673-012-9384-9. ISSN 1176-7529. PMC 3416978. PMID 22904609.


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