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Medical conditions involving the development of the reproductive system From Wikipedia, the free encyclopedia
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC),[2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.[4]
Disorders of sex development | |
---|---|
Other names | Disorders of sex differentiation, variations of sex characteristics[1] |
Specialty | Medical genetics |
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.[5]
DSDs are defined as "any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads".[6] There are several types of DSDs, and their effect on the external and internal reproductive organs varies greatly.
A frequently used, casual social adjective for people with DSDs is "intersex".[citation needed] Urologists were concerned that terms like intersex, hermaphrodite, and pseudohermaphrodite were confusing and pejorative with respect to humans. This led to the Chicago Consensus, recommending a new terminology based on the umbrella term disorders of sex development.[7] [8] Other than disorders of sex development, another term is congenital conditions of sex development (CCSD). Since 2006, people who were previously incorrectly categorized as hermaphrodites are now labelled as having ovotesticular syndrome.
DSDs are divided into the following categories, emphasizing the karyotype's role in diagnosis:[9][10]
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.[11] It is also possible to have a urethral opening located along the shaft; this condition is known as hypospadias.[12]
Due to the significant and life-long impacts that DSDs can have on patients and their families,[13] it is widely accepted that children with DSDs should be managed by an experienced multidisciplinary team.[14] Health care providers generally agree that children with DSDs should be notified early.[15]
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.[16][17]
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.[67]
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.[68] 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.[69]
Notable patient support and advocacy organizations include:
The term disorders of sex development has generally been accepted by the medical community, as well as being a popular term in academic literature.[71] However, the term is not universal among patients or support groups.[72] 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.[73] Another study found that most affected individuals did not find the term offensive.[74] 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.[75] The Council of Europe[76] and Inter-American Commission on Human Rights[77] have called for a review of medical classifications that unnecessarily medicalize intersex traits.[76][77][78]
The DSD as a model was advocated for by intersex advocates to include all variation of atypical sexual development. Specifically the DSD exists as replacement for the "optimum gender rearing model," which was the standard model for individuals with atypical sexual development. This model stated goal was to assign a gender binary, usually female via non-consensual medicalization, often via the falsification of medical records. After the publication of individuals who had undergone the OGR model and had gone through serious physiological distress, (such as David Reimer), the model was discredited. The term "disorders of sexual development" was chosen to reflect the variation of sexual development over differences which effects all individuals, this however has been controversial, with many instead opting for "differentiation" or "variation."[79]
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.[80] 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.[81][82]
A "dsd-LIFE" study in 2020 found that around 69% of 1,040 participants reported that DSD applied to their condition or that they felt neutral about the term, with most participants preferring terms that were specific to their somatic condition.[74]
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.[76]
While the 2006 clinical consensus statement that introduced the term,[4] its 2016 update,[47] 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.[101]
Similarly, some clinicians have proposed that congenital adrenal hyperplasia be excluded.[102] Human rights advocate Morgan Carpenter has remarked that this proposal appears motivated by support for contentious medical interventions.[103]
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".[104] Such views are contested.[105]
There is particular contention around female-presenting athletes with DSDs (which can cause an elevated level of testosterone) competing in female-only sports events.[106]
World Athletics highlighted that while 46 XY DSD occurs in roughly 1 in 20,000 people in the general population, it is found in about 7 in 1,000 elite female athletes (with a prevalence 140 times higher) suggesting a significant performance advantage.[107]
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