Disorders of sex development

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Disorders of sex development
Classification and external resources
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Disorders of sex development
Classification and external resources

Disorders of sex development (DSD), sometimes referred to as disorders of sex differentiation or differences of sex development,[1] are medical conditions involving the reproductive system. More specifically, these terms refer to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical."[2] Lee et al. in a 2006 Consensus statement on management of intersex disorders proposed a system of nomenclature based on "disorders of sex development" for clinical use, suggesting that "terms such as intersex, pseudohermaphroditism, hermaphroditism, sex reversal, and gender based diagnostic labels are particularly controversial," may be perceived as pejorative, and are confusing to practitioners and parents alike. In "We Used to Call Them Hermaphrodites," Eric Vilain states that "DSD" is not a synonym for intersex; he states that it replaces medical terms based on "hermaphrodite".[3]

Such views are contested - including at Parliamentary level. A committee of the Senate of Australia found that labelling intersex as "pejorative" appeared to be a post-hoc rationalisation in the 2006 Consensus statement. Academics like Georgiann Davis and Morgan Holmes, and clinical psychologists like Tiger Devore argue that the term DSD was designed to "reinstitutionalise" medical authority over intersex bodies, making intersex bodies more treatable and more of a stigma.[4][5][6][7]

The World Health Organization and medical journals still reference DSDs as intersex traits or conditions.[8] In a 2013 paper on Preimplantation genetic diagnosis and "intersex conditions" Professor Jeff Nisker describes how, "Once 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"[9] In the same journal, Georgiann Davis references "intersex traits".[10]


DSDs are medical conditions involving the way the reproductive system develops from infancy (and before birth) through young adulthood. There are several types of DSDs and their effect on the external and internal reproductive organs varies greatly.

The medical adjective for people with DSDs can be "intersex". Intersex literally means that the body is between the two sexes, male and female. Nevertheless, most intersex people think of themselves as completely being either boys/men, or girls/women. For this reason, parents with DSD children and clinicians involved in DSD treatment usually try to make clear distinctions between biological sex, social gender, and sexual orientation. This helps clear up any lingering confusion about the differences between being intersex, being transgender, and being gay/lesbian.

The most common DSD is Congenital Adrenal Hyperplasia (CAH), which results in a person with female (XX) chromosomes having genitals that look somewhat masculine. In mild cases CAH results in a slightly enlarged clitoris, while in more severe cases it can be difficult to decide (just by looking) whether a baby is male or female (this is called having ambiguous genitals). Nevertheless, if they are old enough to know the difference, most children with CAH think of themselves as girls. CAH is caused by a problem with the adrenal glands and is usually treated by taking a daily medication to replace or supplement the missing adrenal hormones. (When this adrenal problem occurs in people with male (XY) chromosomes, the result is over-masculinization and premature puberty).

Another common DSD is Androgen Insensitivity Syndrome (AIS), which means that a person with male (XY) chromosomes does not respond to testosterone in the usual way. This results in a body that to some degree has a feminine appearance. In Complete Androgen Insensitivity Syndrome (CAIS) the result is a totally feminine appearance, including typical female breast development. Consequently, most young women with CAIS are unaware of their condition until the early teen years when they fail to menstruate. In the milder form, called Partial Androgen Insensitivity Syndrome (PAIS), the genitals can vary from mostly female to almost completely male. Some people with PAIS think of themselves as girls/women, while others regard themselves as boys/men. Some people with PAIS take hormones and/or undergo surgery to give the genitals a more ordinary appearance. In the past such surgeries were often performed in infancy, but in recent years the tendency has been to postpone surgery until the child has expressed a clear gender preference and is old enough to participate actively in decisions about his/her medical treatment.

One of the more unusual DSDs is 5-Alpha Reductase Deficiency (5ARD), popularly known as "Penis at 12." It is caused by a shortage early in life of an enzyme that activates testosterone. In this condition, a person with male (XY) chromosomes has a body that appears female before puberty. After puberty begins, other testosterone-activating enzymes become available and the body soon takes on a masculine appearance, with the scrotum and penis usually reaching typical or nearly-typical size. If 5ARD is diagnosed at a young age, the child is generally raised as a boy, since the vast majority of adults with this condition consider themselves men.

In addition to CAH, CAIS, PAIS, and 5ARD there are several rarer types of DSDs, and in some cases it is not possible to make a clear diagnosis of the underlying condition.

The penis and clitoris are essentially the same organ (differing only in size, and generically called the phallus). In typical males, the urethra is located at the tip of the penis, while in typical females the urethra is located below the base of the clitoris. When the phallus is of intermediate size, it is possible also to have a urethral opening located along the shaft; this condition is known as hypospadia.

In the past the term "hermaphrodite" was sometimes erroneously used to describe intersex people. This term is no longer used to describe humans (or any other mammals). The correct technical definition of a hermaphrodite is a single organism that has complete sets of both male and female sexual organs, as is the case with most trees and flowering plants.

Open-minded parenting, appropriate and conservative medical intervention, and age-appropriate child involvement in the treatment plan contribute greatly to successful outcomes for the entire range of DSDs.[11]



Use of the term disorder of sex development (DSD) is controversial among many activists and community organisations.[7][22][23] Many governments and international institutions use the term 'intersex' in preference to 'DSD'.

Academic and community responses to the controversy[edit]

Morgan Holmes argues that the replacement of the word 'intersex' with 'Disorders of sex development' in clinical settings "reinstitutionalises clinical power to delineate and silence those marked by the diagnosis" and "that this silencing is precisely the point of the new terminology."[6] Writing in Advances in Medical Sociology, Georgiann Davis described how:

Medical professionals needed to maintain their authority in the face of intersex activism, and they did so linguistically through a reinvention of the intersex diagnosis. The new DSD terminology constructs "sex" as a scientific phenomenon, and a binary one at that...This places intersexuality neatly into medical turf and safely away from critics of its medicalisation.[4][5]

In a series of articles on Preimplantation genetic diagnosis in The American Journal of Bioethics in 2013, bioethicists and related authors reference "intersex traits" or "intersex conditions". Professor Jeff Nisker describes how:

I began laboratory research on PGD in 1989 to offer an option to Canadian women already undergoing in vitro fertilization (IVF) who carried a gene for a “severe” genetic condition and planned to undergo amniocentesis. However, when our study moved from “the mouse to the human” in 1993 and the press pounced, many couples with no indication for IVF and no inherited risk called my office requesting PGD. The most frequent genetic condition they desired to prevent was XX (they wanted a boy)…

Once 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.[9]

On 28 April 2014, the British Medical Journal published an article by Associate Professor Rebecca Jordan-Young, Emeritus Professor Peter Sönksen, and scholar Katrina Karkazis referencing "women with intersex conditions".[8]

Alternatives have been offered: Milton Diamond has suggested the use of "variation"[24][25] or of "difference",[26] and Elizabeth Reis has suggested "divergence";[27] the latter two suggestions would retain the initial D in DSD.

Governmental and institutional responses to the controversy[edit]

In an October 2013 report of a Parliamentary inquiry into the Involuntary or coerced sterilisation of intersex people in Australia, the Australian Senate's Community Affairs References Committee recommended a review of clinical use of the term.[4] Their recommendations include:

Recommendation 1

2.20 The committee recommends that governments and other organisations use the term 'intersex' and not use the term 'disorders of sexual development'.

Recommendation 2

2.21 The committee recommends that health professionals and health organisations review their use of the term 'disorders of sexual development', seeking to confine it to appropriate clinical contexts, and should use the terms 'intersex' or 'differences of sexual development' where it is intended to encompass genetic or phenotypic variations that do not necessarily require medical intervention in order to prevent harm to physical health.

— Senate of Australia

In a rationale, the Parliamentary report states that "2.4 Not everyone who is intersex has a health problem: whether they experience a 'disorder' is not defined by whether they are biologically 'intersex'" and the "history of the terminology is vexed":

2.5 The history of the terminology is vexed. A 'Consensus Statement' was developed in 2006, based on work that occurred during an International Consensus Conference on Intersex. The meeting was of medical professionals, organised by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology... [the statement reported that alternative terms, including 'intersex', were considered to be 'pejorative']

2.8 It was suggested to the committee by the Australasian Paediatric Endocrine Group (APEG) that some 'patient groups in Australia find this term [intersex] pejorative and offensive, and do not want to be termed or referred to as "intersex"'. The committee received no evidence of the term being found pejorative or offensive...

2.9 APEG's policy position appears to reflect the 2006 Consensus Statement referred to above, but as the committee has noted, there is no evidence base to support the nomenclature used in that statement.

2.16 It concerns the committee that there appears to be no evidence to support the position taken on appropriate terminology by the 2006 'Consensus Statement'.

— Senate of Australia...

A similar rejection of 'Disorders of Sex Development' was adopted elsewhere in Australia in decision-making guidelines, Decision-making principles for the care of infants, children and adolescents with intersex conditions, published in February 2013 by the Department of Health of the State of Victoria.[28]

Australia has also enacted anti-discrimination legislation that includes the attribute "intersex status"[29][30] and published identity recognition guidelines that use the same 'intersex' terminology.[31]

In May 2014, the World Health Organization issued a joint statement on Eliminating forced, coercive and otherwise involuntary sterilization, An interagency statement with the OHCHR, UN Women, UNAIDS, UNDP, UNFPA and UNICEF. The report references the involuntary surgical "sex-normalising or other procedures" on "intersex persons". The report recommends a range of guiding principles for medical treatment, including ensuring patient autonomy in decision-making, ensuring non-discrimination, accountability and access to remedies.[32]

See also[edit]


  1. ^ Diamond, Milton; Hazel G. Beh (January 2008). "Changes in the management of children with intersex conditions". Nat Clin Pract Endocrinol Metab. 4 (1): 4–5. doi:10.1038/ncpendmet0694. PMID 17984980. Retrieved 18 September 2012. 
  2. ^ Lee P. A., Houk C. P., Ahmed S. F., Hughes I. A.; Houk; Ahmed; Hughes (2006). "Consensus statement on management of intersex disorders". Pediatrics 118 (2): e488–500. doi:10.1542/peds.2006-0738. PMID 16882788. 
  3. ^ Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O; Achermann; Eugster; Harley; Morel; Wilson; Hiort (2007). "We used to call them hermaphrodites". Genetics in Medicine 9 (2): 65–66. doi:10.1097/gim.0b013e31802cffcf. PMID 17304046. 
  4. ^ a b c Senate Community Affairs Committee, Involuntary or coerced sterilisation of intersex people in Australia, October 2013
  5. ^ a b Georgiann Davis (2011), "DSD is a Perfectly Fine Term": Reasserting Medical Authority through a Shift in Intersex Terminology, in PJ McGann, David J. Hutson (ed.) Sociology of Diagnosis (Advances in Medical Sociology, Volume 12), Emerald Group Publishing Limited, pp.155-182
  6. ^ a b Holmes, Morgan (2011). "The Intersex Enchiridion: Naming and Knowledge in the Clinic". Somatechnics 1 (2): 87–114. doi:10.3366/soma.2011.0026. 
  7. ^ a b An Interview with Dr. Tiger Howard Devore PhD, We Who Feel Differently, February 7, 2011.
  8. ^ a b Rebecca Jordan-Young, Peter Sönksen, and Katrina Karkazis (28 April 2014) Sex, health, and athletes, British Medical Journal, BMJ 2014;348:g2926, doi: http://dx.doi.org/10.1136/bmj.g2926.
  9. ^ a b Nisker Jeff (2013). "Informed Choice and PGD to Prevent "Intersex Conditions". The American Journal of Bioethics 13 (10): 51–53. doi:10.1080/15265161.2013.828119. PMID 24024811. 
  10. ^ Davis Georgiann (2013). "The Social Costs of Preempting Intersex Traits". The American Journal of Bioethics 13 (10): 51–53. doi:10.1080/15265161.2013.828119. PMID 24024811. 
  11. ^ Pediatric gender assignment : a critical reappraisal ; [proceedings from a conference ... in Dallas in the spring of 1999 which was entitled "pediatric gender assignment - a critical reappraisal"]. New York, NY [u.a.]: Kluwer Acad. / Plenum Publ. 2002. ISBN 0306467593.  |first1= missing |last1= in Authors list (help)
  12. ^ Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. Röttger, S., K. Schiebel, G. Singer, S. Ebner, W. Schempp, and G. Scherer. "An SRY-negative 47,XXY mother and daughter." Cytogenetics and Cell Genetics 91.1-4 (2000): 204-07. National Center for Biotechnology Information. U.S. National Library of Medicine, 2001. Web. 12 Aug. 2013.
  13. ^ Tartaglia N, Davis S, Hench A et al. (June 2008). "A New Look at XXYY Syndrome: Medical and Psychological Features". Am. J. Med. Genet. A 146A (12): 1509–22. doi:10.1002/ajmg.a.32366. PMC 3056496. PMID 18481271. 
  14. ^ What is XXXXY syndrome? Retrieved March 26, 2008.
  15. ^ Visootsak J, Graham JM; Graham Jr (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147. 
  16. ^ Chibber PJ, Shah HN, Jain P, Yadav P; Shah; Jain; Yadav (2005). "Male gender assignment in aphallia: a case report and review of the literature". Int Urol Nephrol 37 (2): 317–9. doi:10.1007/s11255-004-7974-0. PMID 16142564. 
  17. ^ The Focus Foundation. X & Y Variations. thefocusfoundation.org
  18. ^ Fullerton G, Hamilton M, Maheshwari A.; Hamilton; Maheshwari (2010). "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?". Hum Reprod. 25 (3): 588–97. doi:10.1093/humrep/dep431. PMID 20085911. 
  19. ^ Op can boost size of micro-penis, BBC News, Published December 6, 2004
  20. ^ National Library of Medicine (2007). "Genetics Home Reference: Triple X syndrome". Retrieved 2007-03-22. 
  21. ^ Double uterus Mayo Clinic, Published September 11, 2010
  22. ^ Submission to inquiry on involuntary or coerced sterilisation of people with disabilities, Organisation Intersex International Australia, 15 February 2013.
  23. ^ Hello World - I am not a DSD
  24. ^ Beh, Hazel; Diamond, Milton (2006). "Variations of Sex Development Instead of Disorders of Sex Development". Archives of Disease in Childhood (26 July 2006). 
  25. ^ Tamar-Mattis, Anne; Diamond, Milton (2007). "Managing variation in sex development.". Journal of Pediatric Endocrinology & Metabolism 20 (4): 552–553. 
  26. ^ Diamond, Milton; Beh, Hazel. (2008). "Changes In Management Of Children With Intersex Conditions.". Nature Clinical Practice Endocrinology & Metabolism 4 (1): 4–5. doi:10.1038/ncpendmet0694. PMID 17984980. 
  27. ^ Reis, Elizabeth (2007). "Divergence or Disorder?". Perspectives in Biology and Medicine 50 (4): 535–543. doi:10.1353/pbm.2007.0054. PMID 17951887. 
  28. ^ Department of Health, Victoria, Australia, "Decision-making principles for the care of infants, children and adolescents with intersex conditions", 21 February 2013
  29. ^ Organisation Intersex International (OII) Australia, "On the historic passing of the Sex Discrimination Amendment (Sexual Orientation, Gender Identity and Intersex Status) Act 2013", 25 June 2013
  30. ^ ComLaw, "Sex Discrimination Amendment (Sexual Orientation, Gender Identity and Intersex Status) Act 2013, No. 98, 2013. C2013A00098", 2013
  31. ^ Australian Government Guidelines on the Recognition of Sex and Gender, 30 May 2013
  32. ^ Eliminating forced, coercive and otherwise involuntary sterilization, An interagency statement, World Health Organization, May 2014.

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