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Disorders of sex development
Other namesDisorders of sex differentiation, differences of sex development[1]
SpecialtyMedical genetics

Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC),[2] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.[3]

DSDs are subdivided into groups in which the labels generally emphasize the karyotype's role in diagnosis: 46,XX; 46,XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal.

Overview

DSDs are medical conditions encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads.[4] There are several types of DSDs and their effect on the external and internal reproductive organs varies greatly.

A frequently-used social and medical adjective for people with DSDs is "intersex".[5] Urologists were concerned that terms like intersex, hermaphrodite, and pseudohermaphrodite were confusing and pejorative. This led to the Chicago Consensus, recommending a new terminology based on the umbrella term disorders of sex differentiation.[6]

DSDs are divided into following categories, emphasizing the karyotype's role in diagnosis:[7][8]

Genital anatomy

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

The penis (males) and clitoris (females) have a common origin, both arising from an embryonic structure called the primordial 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. It is also possible to have a urethral opening located along the shaft; this condition is known as hypospadias.

Management of DSDs

Due to the significant and life-long impacts that DSDs can have on patients and their families,[9] it is widely accepted that children with DSDs should be managed by an experienced multidisciplinary team.[10] Health care providers generally agree that children with DSDs should be notified early.[11]

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.[12][pages needed]

Conditions

Organizations

Clinical networks and organizations

DSD-TRN

The Differences of Sex Development-Translational Research Network (DSD-TRN) is based in the United States and aims to improve DSD care across the United States.[22]

I-DSD

The International-Differences of Sex Development (I-DSD) is a research organization in Europe. This organization connects medical and research centers internationally in an effort to improve clinical practice, research, and general understanding of differences of sex development.[23] I-DSD regularly hosts a symposium to provide updates on current care in DSD internationally, facilitate networking for those in DSD Care, and promote high quality DSD research.[24]

Patient support and advocacy organizations

Main article: Intersex civil society organizations

This section is transcluded from Intersex civil society organizations. (edit | history)

Notable patient support and advocacy organizations include:

Africa

Asia

Europe

• Caminar intersex (España -islas Canarias)

Latin America

North America

Oceania

International


Controversy

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Terminology

The term disorders of sex development has generally been accepted by the medical community, as well as being a popular term in literature.[25] However, the term is not universal among patients or support groups.[26] One study stated that it can affect individuals covered by the description in a negative way, and that the terminology might impact choice and utilization of health care providers.[27] Another study found that most affected individuals didn’t find the term offensive.[28] The ICD-11, which is the World Health Organization's international guide to medical coding (effective as of January 1, 2022), references DSDs as intersex traits or conditions, as do some medical journals.[29] The Council of Europe[30] and Inter-American Commission on Human Rights[31] have called for a review of medical classifications that unnecessarily medicalize intersex traits.[30][31][32]

Sociological research in Australia on 272 "people born with atypical sex characteristics," published in 2016, found that 3% of respondents used the term "disorders of sex development" or "DSD" to define their sex characteristics, while 21% use the term when accessing medical services. In contrast, 60% used the term "intersex" in some form to self-describe their sex characteristics.[33] U.S. research by the Lurie Children's Hospital, Chicago, and the AIS-DSD Support Group (now InterConnect Support Group) published in 2017 found that "disorders of sex development" terminology may negatively affect care, give offense, and result in lower attendance at medical clinics.[34][35]

A "dsd-LIFE" study in 2020 found that around 69% of 1,040 participants didn’t think the term disorders of sex development was offensive.[28]

Human rights and community concerns

Further information: Intersex human rights and Intersex medical interventions

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.

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.[30]

Clinical disagreements about the term

While the 2006 clinical consensus statement that introduced the term,[3] its 2016 update,[18] included some sex chromosome anomalies within the term DSD, the inclusion of those conditions is opposed by some clinicians.[citation needed] Medical historian David Griffiths has identified continued controversy about the relationship between sex chromosome variations and intersex/DSD classifications.[54]

Similarly, some clinicians have proposed that congenital adrenal hyperplasia be excluded.[55] Human rights advocate Morgan Carpenter has remarked that this proposal appears motivated by support for contentious medical interventions.[56]

A member of the legal committee for the World Professional Association for Transgender Health and co-founder of the Australian and New Zealand Professional Association for Transgender Health has described "transsexualism" as "an intersex condition and a disorder of sexual development therapeutically medically treated by hormonal therapy and Genital Reassignment Surgery".[57] Such views are contested.[58]

People with DSDs competing in sporting events

There is particular contention around female presenting athletes with DSDs (which can cause an elevated level of testosterone) competing in female-only sports events.[59]

See also

References

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  2. ^ "Differences in sex development". U.K. National Health Service (NHS). 2017-10-18. Retrieved 2020-04-10.
  3. ^ a b c d e Lee PA, Houk CP, Ahmed SF, Hughes IA (August 2006). "Consensus statement on management of intersex disorders. International Consensus Conference on Intersex". Pediatrics. 118 (2): e488-500. doi:10.1542/peds.2006-0738. PMC 2082839. PMID 16882788.
  4. ^ Hughes, Ieuan A. (February 2008). "Disorders of sex development: a new definition and classification". Best Practice & Research Clinical Endocrinology & Metabolism. 22 (1): 119–134. doi:10.1016/j.beem.2007.11.001. PMID 18279784. In its place, a consensus statement recommends the term ‘disorder of sex development’ (DSD), a generic definition encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads.
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Further reading