F1000 Commentary: Attitudes towards “disorders of sex development” nomenclature among affected individuals.

Johnson EK, Rosoklija I, Finlayson C, Chen D, Yerkes EB, Madonna MB, Holl JL,Baratz AB, Davis G, Cheng EY. J Pediatr Urol 2017 May 08

DOI: 10.1016/j.jpurol.2017.03.035

Abstract

Introduction

Although now commonly used in medicine, the updated “disorders of sex development” (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions.

Objective

Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms.

Study design

A web-based survey was developed in collaboration with the AIS-DSDSG (Androgen Insensitivity Syndrome–DSD Support Group) leadership. AIS-DSDSG members (caregivers and affected individuals) were surveyed about attitudes towards DSD, potential impact on healthcare utilization, and alternate terms. A qualitative analysis of reasons for using/avoiding specific terms was performed.

Results

Surveys were completed by 202 out of 580 (35%) AIS-DSDSG members (61% affected, 39% caregivers; 16% non-gender binary; age range of affected individuals 0–86 years). Only 24% use disorder of sex development to describe themselves/their child. A majority (69%) had a negative emotional experience because of clinical use of nomenclature; 81% changed their care because of it. Preferred and non-preferred terms for clinical care and research are illustrated in the figure. Preferred diagnostic terms were intersex, variation in sex development, and difference of sex development (55%, 52%, and 50% liked/strongly liked, respectively). Disorder of sex development was not preferred (17% liked/strongly liked). About one-third reported that they would not attend a clinic named the Disorder of Sex Development Clinic. Overall, 81% provided qualitative comments; flexible terminology use was a key theme.

Discussion

These study findings are consistent with previous studies that demonstrated negative perceptions of DSD nomenclature. This study adds to previous findings by surveying a large group of affected individuals with a range of diagnoses, and by exploring emotional impact and healthcare utilization. Several possible alternative terms were also defined. The study was limited by inclusion of only members of AIS-DSDSG, a convenience sample where complete AIS is over-represented, and whose views may not represent the opinion of all individuals with DSD conditions.

Conclusions

A group of affected individuals and parents have negative views about the DSD terminology commonly used by medical professionals. Use of certain terms may affect the choice of healthcare provider/institution. Evaluation of DSD terminology in other affected individuals, and re-evaluation of current nomenclature, in collaboration with advocates, is needed.


Summary

If you are confused about the appropriate umbrella term to use for “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical,” you shouldn’t be too hard on yourself. The term adopted at a 2005 consensus conference was “disorders of sex development” (DSD) {1} and the hope was that this new term, and associated nomenclature would increase clarity and reduce stigma believed to accompany labels such as “intersex” or “pseudohermaphroditism.” Adoption of the DSD nomenclature by clinical and research communities has, indeed, been rapid and pervasive. Degree of acceptance by various patient stakeholder communities has been a very different story, although the reasons for the discontent likely vary by constituency.

This study, conducted as a survey of members (DSD-affected persons and their caregivers) of one U.S.-based patient support and advocacy organization, set out to learn about favored terminology, including clinic name preferences. Participation rate was only 35%; this is considered to be low for what is believed to be such a contentious topic. Affected participants were born with a range of conditions, although the largest subgroups were those with complete androgen insensitivity syndrome (CAIS) (46%) and partial AIS (14%). The median age of affected respondents (61% of sample) was 43 years and 12.5 years for affected children of parents and other caregivers completing the survey (39% of sample). Sixteen percent of the sample identified with a nonbinary gender; a substantially higher percentage than typically reported in studies of individuals with DSD identified by medical chart review.

The most common term used by survey participants (self and caregiver) was their specific diagnosis (e.g., androgen insensitivity syndrome, partial or complete), followed by “intersex” (61%). Only 24% adopted “differences of sex development” to describe themselves or their child. Two important points here: DSD (like intersex) is an umbrella term and survey respondents preferred their personal diagnosis to the general category. The second point is that there will always be a need for an umbrella term when a diagnosis cannot be ascertained. Under those circumstances, a majority in this sample chose “intersex.” Perhaps this is unsurprising given the median age of this sample (43 years) and the fact that prior to the 2005 consensus conference, intersex was the term most commonly used by healthcare professionals.

The highest proportion of respondents (85%) reported that the most common term heard from support groups or the media was intersex. This finding matches my personal observation that media reports on the medical conditions categorized as DSD are generally referred to as intersex and, not infrequently, also combined with the acronym LGBT, i.e. “LGBTI.” In open-ended survey responses, a reason provided for preferring intersex was that the term reflected a gender spectrum. In contrast, individuals who viewed intersex negatively (a smaller proportion) noted that it is frequently confused with transgender and viewed intersex as sensationalized. The distinction between a medical condition (DSD) and an identity (intersex) was identified as a key subtheme in responses.

In a separate study of people connected to the largest patient support and advocacy organization representing those with congenital adrenal hyperplasia in the U.S. (CARES Foundation), respondents similarly rejected “DSD” as a superordinate term {2}. The clear majority (84%) did not identify with this terminology.

Clinicians and clinical researchers of all stripes are encouraged to adopt “first person” language: avoid the implication that the person as a whole is disabled. For example, rather than referring to a person as a “diabetic,” the preferred expression is “a person with diabetes.” In the voice of one person describing her condition, “It’s part of me, not all of me” {3}.

It appears that one source of the tension over the use of specific terms stems from peoples’ willingness/unwillingness to personally identify with a particular term. Adults are free to identify as they wish; identity is a personal matter and, in general, should not be foisted on others, and most certainly not on children. “Disorders of sex development,” as introduced in the consensus conference, was never meant to be applied as a description of the affected person’s identity. The dilemma of what to call a clinic that delivers multidisciplinary services to this heterogeneous patient population remains. In my experience, taking the time to provide an explanation for the choice of terms can go a long way to diffusing misunderstanding and conflict. Bottom line: inquire with patients and their caregivers about preferred terminology.

References

1.Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.Lee PA, Houk CP, Ahmed SF, Hughes IA, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Pediatrics. 2006 08 01; 118(2):e488-500
PMID: 16882788 DOI: 10.1542/peds.2006-0738

2.Congenital adrenal hyperplasia patient perception of ‘disorders of sex development’ nomenclature.Lin-Su K, Lekarev O, Poppas DP, Vogiatzi MG. Int J Pediatr Endocrinol. 2015; 2015(1):9
PMID: 25780368 DOI: 10.1186/s13633-015-0004-4

3.“It’s part of me, not all of me”: Young women’s experiences of receiving a diagnosis related to diverse sex development.Lundberg T, Roen K, Hirschberg AL, Frisén L. J Pediatr Adolesc Gynecol. 2015 Nov 27;
PMID: 26639995 DOI: 10.1016/j.jpag.2015.11.009

Disclosures

None declared

Recommendation Citation:
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Sandberg D: F1000Prime Recommendation of [Johnson EK et al., J Pediatr Urol 2017]. In F1000Prime, 10 Jul 2017; DOI: 10.3410/f.727655647.793533819. F1000Prime.com/727655647#eval793533819
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