Disorders of sex development

Disorders of sex development
Classification and external resources
MeSH D012734

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] The term has been controversial; the World Health Organization and many medical journals still reference DSDs as intersex traits or conditions.[3] The Council of Europe,[4] and Inter-American Commission on Human Rights[5] have called for a review of medical classifications that unnecessarily medicalize intersex traits.[4][5][6]


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.

A frequently-used medical adjective for people with DSDs is "intersex". 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 reduce 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, others regard themselves as boys/men, and some consider themselves mixed-gender. 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 Puberty." 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 often raised as a boy (a 1996 Brazilian study suggested that the majority of adults with this condition consider themselves men[7] but this has been questioned in some more recent research).

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 Quigley scale is a method for describing genital development in AIS.

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 hypospadias.

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.[8]



The term DSD (and particularly its association with medical disorders) has been controversial. The argument over terminology reflects a deeper disagreement over the extent to which intersex conditions require medical intervention, the appropriateness of certain interventions, and whether physicians and parents should make irreversible treatment decisions on behalf of young children if the condition is not life-threatening.

The 2006 Consensus statement on management of intersex disorders stated that evidence for early surgery for cosmetic reasons is lacking, outcomes include "decreased sexual sensitivity" and long term outcome data is absent.[2] A 2016 Global Disorders of Sex Development Update since 2006 states that there is "still no consensual attitude regarding indications, timing, procedure and evaluation of outcome of DSD surgery" and "no evidence regarding the impact of surgically treated or non-treated DSDs during childhood for the individual, the parents, society or the risk of stigmatization".[34]

In 2013, Juan E. Méndez, the United Nations Special Rapporteur on torture and other cruel, inhuman or degrading treatment or punishment, condemned "irreversible sex assignment, involuntary sterilization, involuntary genital normalizing surgery, performed without their informed consent, or that of their parents, “in an attempt to fix their sex”" stating that "members of sexual minorities are disproportionately subjected to torture and other forms of ill-treatment because they fail to conform to socially constructed gender expectations".[35]

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. Referencing 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.[36]

During 2015, the Council of Europe,[4] and Inter-American Commission on Human Rights[5] called for a review of medical classifications that unnecessarily medicalize intersex traits[4][5][6] an end to medical interventions without consent, and improved disclosure. The Council of Europe's Human Rights Commissioner recommended:

National and international medical classifications which pathologise variations in sex characteristics should be reviewed with a view to eliminating obstacles to the effective enjoyment, by intersex persons, of human rights, including the right to the highest attainable standard of health.[4]

The European Union Agency for Fundamental Rights[6] and UN Treaty Bodies have called for informed consent by individuals subjected to medical treatment, improved disclosure, and access to redress.[37][38]

See also


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  2. 1 2 3 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. Rebecca Jordan-Young, Peter Sönksen, and Katrina Karkazis (2014). "Sex, health, and athletes". British Medical Journal. 348: g2926. doi:10.1136/bmj.g2926. PMID 24776640.
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  5. 1 2 3 4 5 Comisión Interamericana de Derechos Humanos (November 12, 2015), Violencia contra Personas Lesbianas, Gays, Bisexuales, Trans e Intersex en América (PDF) (in Spanish)
  6. 1 2 3 European Union Agency for Fundamental Rights (April 2015), The fundamental rights situation of intersex people (PDF)
  7. Mendoca et al (1996), "Male Pseudohermaphroditism Due to Steroid 5-alpha Reductase 2 Deficiency", Medicine, Vol 75, No 2.
  8. Zderic, Stephen (2002). 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. ISBN 0306467593.
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  24. "Involuntary or coerced sterilisation of intersex people in Australia". Senate Community Affairs Committee. October 2013.
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  30. Tamar-Mattis, Anne; Diamond, Milton (2007). "Managing variation in sex development.". Journal of Pediatric Endocrinology & Metabolism. 20 (4): 552–553.
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  32. Reis, Elizabeth (2007). "Divergence or Disorder?". Perspectives in Biology and Medicine. 50 (4): 535–543. doi:10.1353/pbm.2007.0054. PMID 17951887.
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  34. Lee, Peter A.; Nordenström, Anna; Houk, Christopher P.; Ahmed, S. Faisal; Auchus, Richard; Baratz, Arlene; Baratz Dalke, Katharine; Liao, Lih-Mei; Lin-Su, Karen; Looijenga, Leendert H.J.; Mazur, Tom; Meyer-Bahlburg, Heino F.L.; Mouriquand, Pierre; Quigley, Charmian A.; Sandberg, David E.; Vilain, Eric; Witchel, Selma; and the Global DSD Update Consortium (January 28, 2016). "Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care". Hormone Research in Paediatrics. 85 (3). doi:10.1159/000442975. ISSN 1663-2818.
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  37. United Nations; Committee on the Rights of Persons with Diabilities (April 17, 2015), Concluding observations on the initial report of Germany (advance unedited version), Geneva: United Nations
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