7
Measuring Intersex/DSD Populations
The measurement of intersex status—also known as differences in sex development (DSD)—is complicated by the unique experiences of intersex populations and a limited research base. As discussed in Part I, intersex variations are highly heterogeneous and can involve any sex trait. Most people with intersex traits are born with genitals that appear to be male or female and are therefore assigned either male or female at birth. Often, they are not identified as having an intersex variation until later in life, at times in adolescence or adulthood, if at all.
EVALUATION OF MEASURES
Background: History and Care
Unlike sexual identity and gender identity, which have been studied extensively for more than a decade and for which measures have been used, research on intersex people and people with differences in sex development is in its infancy. The clinical identification and treatment of intersex/DSD people have changed substantially over the past century (Reis, 2012), often in ways that have repercussions for data collection practices. In the early 20th century, intersex variations that were not associated with genital difference were not readily identified by clinicians. Infants who were born with genital difference were often perceived as a shameful aberration. These factors led to the invisibility of intersex bodies—a result of both ignorance and concealment (Reis, 2012). By the 1950s, medicine’s advances enabled clinicians to diagnose and surgically alter intersex bodies.
Stigma, however, persisted in the application of psychological theories of gender development, which held that a binary gender could be assigned and enforced through social learning. Standard practice for intersex management was surgical alteration in infancy and binary gender assignment (Karkazis, 2008). Concealment was prioritized under the assumption that any perceived uncertainty about sex could introduce gender uncertainty and expose a child to social stigma (Reis, 2012). This model was also applied to intersex children without genital difference. Because the focus of these interventions was on early childhood development, parents were at the center of protecting information and decision making (Lee et al., 2006).
This model of care persisted for several decades. By the 1990s, however, intersex advocacy organizations had begun to underscore the internalized stigma that this systematic concealment caused in intersex/DSD persons1 (Davis, 2015). In 2006, the standard of care shifted toward recommending increased engagement of children in decision making and routine disclosure of medical information to children, although parents continued to play important roles in receiving and understanding medical information, and medical practice continues to be informed by parents’ needs and concerns (Mulkey, Streed, and Chubak, 2021). At the same time that standards of care began to shift, a new system of nomenclature was proposed, using an umbrella term of “disorders of sex development” rather than specific intersex variations and replacing a more confusing system referring to different forms of hermaphroditism (Lee et al., 2006). Diagnostic technology and research continue to evolve, and some people do not know their specific intersex variation or learn in adolescent or adulthood that their diagnosis was incorrect.
Most people with intersex variations born before the early 2000s are likely to have learned about their intersex status as adults, and may have incomplete knowledge of their anatomy, medical treatment, and surgical history (Grimstad et al., 2021). Some adults may be aware of their intersex status but have never received a formal medical diagnosis. The history of silence and erasure of intersex status means that many intersex adults may be reluctant to disclose their intersex status because they were taught that it is confidential or because they fear stigma or discrimination. However, in one study based on a convenience sample of those who self-identified as intersex or had a DSD diagnosis, all of the participants endorsed the inclusion of a measure of intersex status in survey research (Tamar-Mattis et al., 2018).
The evolution in the identification and treatment of intersex people has meant that language preferences vary considerably in this population: some people prefer medicalized language, such as having a difference or disorder
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1 For example, the Intersex Society of North America founded in the mid-1990s: see https://isna.org/faq/history/.
of sex development, an intersex condition, or a specific diagnosis, while others prefer to describe themselves as being intersex and avoid terms that appear to be medicalizing (Rosenwohl-Mack et al., 2020; Tamar-Mattis et al., 2018). Although research has been limited, it appears that these preferences can be specific to either clinical or social contexts and that multiple terms may be acceptable to respondents (Johnson et al., 2017). For example, disorder of sex development is actively eschewed by many advocacy groups, and the support group for congenital adrenal hyperplasia does not use any DSD or intersex language.2 Even among physicians and researchers there remains disagreement as to which variations “count” as intersex or DSD (Jenkins and Short, 2017).
The Use of Sex Assigned at Birth to Measure Intersex Status
As noted above, when a child is born with genital difference, the process of assigning gender at birth is highly complex. Current medical standards of care recommend identifying a binary gender with which the child is most likely to identify, with the understanding that this may shift over time. Though families are encouraged to maintain openness to their children’s gender exploration and diversity, very few choose to raise a child as nonbinary.
Also, as noted in Chapter 3, it is only recently that some states have legally permitted a nonbinary designation to be included on birth certificates. Although some intersex adults have amended their birth certificates to the nonbinary category (Reuters, 2019; O’Hara, 2016), it is not known how many people have chosen to do so or how many families of intersex infants have chosen this designation at birth. Additionally, some people have cautioned against reflexively identifying intersex infants as an indeterminate or third gender, arguing that this reinforces the “otherness” of intersex children as well as the gender binary (Asia Pacific Forum of National Human Rights Institutions, 2016; Council of Europe Commissioner of Human Rights, 2015). However, because intersex status is viewed as a “medical condition,” it has traditionally been easier for people with intersex traits to amend their birth certificates to another binary sex designation than it has been for transgender people to do so.
CONCLUSION 2: Intersex status is an important component of demographic status, private medical information, and an aspect of identity. Although there are barriers to disclosure, people appear to want to disclose their status. Because of historical, legal, and medical factors, almost no person in the United States is assigned intersex at birth.
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Therefore, it is inappropriate to assess intersex status primarily with an “intersex” response option for sex assigned at birth; however, when sex assigned at birth is asked, it may be appropriate to include “prefer not to answer” or “do not know” options.
RECOMMENDATION 6: When the National Institutes of Health seeks to identify people with intersex traits or differences of sex development in clinical, survey, research, and administrative settings, they should do so by using a standalone measure that asks respondents to report their intersex status. They should not do so by adding “intersex” as a third response category to a binary measure of sex.
Measures That Have Been Used
Each of the unique aspects of intersex populations, particularly when layered with evolving societal understandings of sex and gender, can affect the context and questions used to identify people with intersex traits. Unfortunately, very few data are available to guide recommendations on best practices for the specific language to use to measure intersex status. A number of recommendations for questions have been either offered by or developed in collaboration with members of intersex communities: see Table 7A-1 in the annex to this chapter.
A 2018 online, anonymous survey of a convenience sample of 111 adults who self-identified as being intersex or having a diagnosis of a DSD involved cognitive testing of the first single-item measure recommended by the Gender Identity in the U.S. Surveillance Group (GenIUSS) (Tamar-Mattis et al., 2018, p. 321):
Have you ever been diagnosed by a medical doctor with an intersex condition or a “Difference of Sex Development (DSD)” or were you born with (or developed naturally in puberty) genitals, reproductive organs, and/or chromosomal patterns that do not fit standard definitions of male or female?
Nearly all of the respondents, 96.4 percent, reported having been diagnosed with a DSD, 18.0 percent identified as intersex, and 72 percent endorsed the measure as important and straightforward. All of the respondents agreed with including an intersex measure in survey research. Qualitative analysis found that some participants found the question to be overly medicalizing, which may exclude respondents who have not had access to care or a diagnosis, and others expressed concern with the use of DSD language.
Importantly, survey recruitment was through Facebook advertisements and posts to community support and advocacy forums. Respondents were predominantly White (83.8%), educated (63.9% with a bachelor’s degree or graduate education), and assigned female at birth (72.1%). Only 36.9 percent identified with their sex assigned at birth. Additionally, the study provided a list of intersex variations from which to choose, and there was an uneven distribution of specific variations. Consequently, these results may not generalize to other diagnostic groups or clinical settings, and they indicate a need for further research. Moreover, because the study population was comprised of only those who identified as intersex or had been diagnosed with a DSD, it could not assess the degree to which this measure generates “false positives”—people who are not intersex but respond that they are.
A 2020 community-based participatory survey of 179 respondents that was also conducted online and recruited from intersex support and advocacy groups used a similar question to confirm that participants had intersex variations, as well as another question regarding specific intersex variation (Rosenwohl-Mack et al., 2020, S2 p. 1):
Some people are assigned male or female at birth but are born with traits including sexual anatomy, reproductive organs, and/or chromosome patterns that may not fit the typical definition of male or female. These traits may be known as variations or differences of sex development (DSD) or intersex.
Have you ever been diagnosed by a medical doctor or other health professional with an intersex condition or a “Difference of Sex Development (DSD)” or were you born with (or developed naturally in puberty) genitals, reproductive organs, and/or chromosomal patterns that do not fit standard definitions of male or female?
Among this sample, over 10 percent of the respondents had no confirmed intersex diagnosis, and nearly 50 percent reported two or more intersex diagnoses. These respondents were also asked to report their sex assigned at birth and gender identity: 3.7 percent responded “not sure” to their sex assigned at birth, 63.4 percent reported intersex as their gender identity, and 15.8 percent identified as transgender. Again, the sample was predominantly White (72.8%), educated (60.9% with a bachelor’s or higher degree), and assigned female at birth (66.3%). For those who reported their specific intersex variation, complete androgen insensitivity syndrome was relatively overrepresented as the most common variation (19.1%),
and classic congenital adrenal hyperplasia was relatively underrepresented (5.7%).3
A 2020 survey conducted by the Center for American Progress (2021) included an intersex status question that simplified the first GenIUSS question listed above: “Have you ever been diagnosed by a medical doctor with an intersex condition?” The initial sample of self-identified LGBT adults was selected from a national, probability panel of U.S. households held by AmeriSpeak and was supplemented with respondents from a nonprobability opt-in online panel of respondents. Of 1,528 participants, 4.9 percent answered that they had been diagnosed with an intersex condition. The nonresponse rate was 0.9 percent. This sample was somewhat more diverse than the previous studies with respect to both race and ethnicity (59% White, 12% Black, 18% Hispanic, and 4% Asian) and education (34% with a bachelor’s or higher degree). The result of the 4.9 percent figure is far higher than usual estimates of intersex prevalence, but it was not possible to determine whether this was due to the overrepresentation of LGBT respondents or misreporting because there was no follow-up question to assess specific intersex variations or the rate of false positives.
The 2020 Pennsylvania LGBT Health Needs Assessment,4 a biannual community-based survey using convenience sampling that was conducted in a partnership between the Pennsylvania Department of Health and the Bradbury-Sullivan LGBT Community Center, included an intersex status question. This question was also based on a simplified version of the first GenIUSS question: “Were you born intersex, or with a variation of sex characteristics or sex development?” This question does not rely on medical verification of intersex status, and this study was novel in its use in a larger sample (N = 6,582) and broader LGBT community setting. The “yes” rate was 1.7 percent, which is the highest estimate of intersex prevalence in the academic literature. However, as with the Center for American Progress study, there was no follow-up question to assess specific intersex variation or the rate of false positives. The question had a 0.29 percent nonresponse rate. Respondents were predominantly White (83.8%) and educated (56.6% held a bachelor’s or higher degrees). Of note, 27 percent of respondents identified as transgender, nonbinary, genderqueer, or gender fluid.
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3 In the general population, complete androgen insensitivity syndrome is less common (1 in 20,000) than classical congenital adrenal hyperplasia (1 in 15,000) (Therrell et al., 1998). If infants with intersex traits occur in 1 in 2,000 births, this suggests that roughly 10 percent of those with intersex traits should have complete androgen insensitivity syndrome and roughly 13 percent should have classical congenital adrenal hyperplasia.
4 See https://www.pacancercoalition.org/images/pdf/LGBTQ_resources/2020_pa_lgbtq_full_report_final_public_distribution.pdf.
RECOMMENDATION: INTERSEX STATUS MEASURES
Available research on specific language is too limited for the panel to offer definitive recommendations on the exact terminology to use in the measurement of intersex status. Only one known study has involved cognitive interviewing; its sample included only intersex-identified adults, and it did not include adults without intersex variations or parents of children with or without intersex variations. While nonresponse rates are reported in the small number of existing studies, these studies lack assessments of sensitivity and specificity. Because most standard measures of validity were unavailable, we therefore evaluated potential questions by considering the following elements (when present): any available scientific evidence of construct validity and item response metrics; application in population-based samples; ease of administration and clarity of understanding; recommendations of U.S. intersex-led policy and advocacy organizations; and consistency with the panel’s principles for data collection.
The panel also valued an intersex status question as one that accurately assesses a person’s naturally developed sex variation rather than gender identity, while acknowledging that people with sex variations may also assert intersex as a gender identity (Rosenwohl-Mack et al., 2020). The panel acknowledges the problems associated with grounding an intersex status question in medical diagnosis and experience, especially for a population known to have experienced traumatic medical treatment.
In summary, there is very little evidence regarding the language or impact of measurement of intersex status in research, clinical, and administrative settings. Thus, our recommendation is a limited one. However, based on the available research, historical context, and community recommendations, there are three questions that appear to have the strongest grounding in evidence, which we offer as options.
Option 1:
Have you ever been diagnosed by a medical doctor or other health professional with an intersex condition or a difference of sex development (DSD) or were you born with (or developed naturally in puberty) genitals, reproductive organs, or chromosomal patterns that do not fit standard definitions of male or female?
Option 2:
Were you born with a variation in your physical sex characteristics? (This is sometimes called being intersex or having a difference in sex development, or DSD.)
Option 3:
Have you ever been diagnosed by a medical doctor with an intersex condition or a difference of sex development?
All three questions offer the same response options:
- Yes
- No
(Don’t know)
(Prefer not to answer)
Of these three options, the panel prefers option 1 because it is the only measure that has been tested among intersex populations, although it is long and potentially cumbersome to administer. Both options 2 and 3 are modified versions of GenIUSS group recommendations and effectively divide into two parts the questions that were tested in intersex communities. A version of each bifurcation was tested in population-based surveys of the Center for American Progress and Pennsylvania LGBT Health Needs Assessment: while positive responses rates varied substantially in ways that were difficult to assess given differences among the survey populations, nonresponse rates for both questions were low. We note that there is no research that examines proxy reporting of intersex status, such as by parents or caregivers of young children, nor has any testing of questions on intersex status been conducted using minors as respondents.
In some situations, it might be necessary to identify the respondent’s specific intersex variation. InterACT Advocates for Intersex Youth has provided a list of variations that are often considered by medical providers and community members to be intersex: see the list in Annex 7-2 to this chapter.
CONCLUSION 3: Based on the best available evidence, community guidance, and expert opinion, intersex status can be measured using the following question:
Have you ever been diagnosed by a medical doctor or other health professional with an intersex condition or a difference of sex development (DSD) or were you born with (or developed naturally in puberty) genitals, reproductive organs, or chromosomal patterns that do not fit standard definitions of male or female?
- Yes
- No
(Don’t know)
(Prefer not to answer)
If identification of specific intersex variations is needed, as in a clinical care or research, a list of intersex variations can be provided.
RECOMMENDED RESEARCH AREAS
In light of the many unresolved issues and questions regarding the measurement of people with intersex characteristics, the panel offers recommendations for research.
RECOMMENDATION 7: To improve the quality and inclusivity of current measures of intersex status, the National Institutes of Health should fund and conduct research on the following topics:
- The use of a single-item intersex/DSD status question.
- The quality of the three measures of intersex/DSD status that were identified by the panel as having the strongest grounding in evidence to determine which measure most effectively identifies the intersex/DSD population in a range of settings.
- The effects of including definitions and examples of terms used in intersex status questions, such as “intersex,” “DSD,” and specific intersex variations.
- The prevalence of “intersex” as a gender identity both among people with known intersex variations and people without intersex variations.
- The effects of proxy reporting of intersex/DSD status, particularly of parents reporting their children’s status.
ANNEX 7-1:
MEASURES OF INTERSEX STATUS
Table 7A-1 shows measures for intersex status that have been recommended by bodies in the United States and other English-speaking countries.
TABLE 7A-1 Measures of Intersex Status in the United States and Other English-Speaking Nations
Question | Response Options | Source (Notes) |
---|---|---|
Were you born with a variation of sex characteristics (sometimes called “intersex” or ‘DSD’)? |
|
Australian Bureau of Statistics (2021) (Only recommended for self-report) |
Some people are assigned male or female at birth, but are born with sexual anatomy, reproductive organs, and/or chromosome patterns that do not fit the typical definition of male or female. This physical condition is known as intersex. Are you intersex? |
|
The GenIUSS Group (2014) |
Have you ever been diagnosed by a medical doctor with an intersex condition or a “Difference of Sex Development,” or were you born with (or developed naturally in puberty) genitals, reproductive organs, and/or chromosomal patterns that do not fit standard definitions of male or female? |
|
The GenIUSS Group (2014) |
Were you born with a variation in your physical sex characteristics? (This is sometimes called being intersex or having a difference in sex development, or DSD)? |
|
The Fenway Institute/InterACT (2020) |
Question | Response Options | Source (Notes) |
---|---|---|
Some people are born with bodies that are a little different from what we think of as standard “male” or “female” bodies. For example, some people have genitals that don’t look exactly like most other penises or vaginas, or they might have reproductive organs that aren’t what we’d expect based on how their body looks. This is called being intersex. Are you intersex? |
|
The Fenway Institute/InterACT (2020) (Modification for youth respondents) |
Some people are labeled male or female at birth, but are born with physical differences in sex anatomy, reproductive organs, chromosomes, and/or hormone function that do not fit typical expectations. These differences are known as variations in sex characteristics, differences in sex development, intersex traits, or sometimes by specific medical terms (like Congenital Adrenal Hyperplasia or Androgen Insensitivity Syndrome). Were you born with any of these physical differences? |
|
The Fenway Institute/InterACT (2020) |
Were you born with a variation of sex characteristics (otherwise known as an intersex variation)? |
|
Statistics New Zealand (2021) (Recommends including a definition of what variations of sex characteristics means and including a list of common conditions [where possible].) |
ANNEX 7-2:
CONDITIONS CLASSIFIED AS INTERSEX OR DIFFERENCES IN SEX DEVELOPMENT
This annex lists the varieties of intersex conditions that are often specified by medical providers and groups that represent affected people (The Fenway Institute/InterACT, 2020).
5-Alpha reductase deficiency (5-ARD)
17-Beta-hydroxysteroid dehydrogenase deficiency
Aphallia
Bladder exstrophy
Classic Congenital Adrenal Hyperplasia (Classic CAH)
Clitoromegaly (large clitoris)
Complete Androgen Insensitivity Syndrome (CAIS)
Cryptorchidism (undescended testicle/s)
de la Chapelle (XX Male) syndrome
Epispadias
Fraser Syndrome
Gonadal dysgenesis (partial or complete)
Hypospadias
Jacobs/XYY Syndrome
Kallmann Syndrome
Klinefelter Syndrome
Late Onset Congenital Adrenal Hyperplasia (late onset CAH)
Leydig Cell Hypoplasia
Micropenis
Mosaicism involving ‘sex’ chromosomes
MRKH (Mullerian agenesis; vaginal agenesis; congenital absence of
vagina)
Mullerian (Duct) aplasia
Ovo-testes (formerly ‘true hermaphroditism’)
Partial Androgen Insensitivity Syndrome (PAIS)
Persistent Mullerian Duct Syndrome
Polycystic Ovary Syndrome (PCOS)/Hyperandrogenism
Progestin Induced Virilization
Swyer Syndrome
Triple-X Syndrome (XXX)
Turner Syndrome (TS, one X chromosome)
XXY/47
XY/XO Mosaicism
XY-Turner Syndrome
Another variation [free text]
Unknown