Community perspectives on difference of sex development (DSD) diagnoses: A crowdsourced survey

Differences of sex development (DSD) engender ethical, social and psychosexual complexities that can complicate medical decision-making. We performed a web-based pilot study to estimate the utility value of a DSD diagnosis and to identify community concerns regarding DSD management.

A cross-sectional survey was posted on Amazon's Mechanical Turk, an online crowdsourcing platform. Respondents were ≥18y and were randomized to receive information on one of three common DSD conditions: Congenital Adrenal Hyperplasia (CAH), Mixed Gonadal Dysgenesis (MGD), and Partial Androgen Insensitivity Syndrome (PAIS). Time trade-off methodology was used to estimate utility values. Likert scale and statement-ranking questions were used to assess respondent perceptions.

Of 1,628 respondents, median age was 34y; most respondents were parents (59.1%), white (77.1%), and previously unfamiliar with DSD (60.4%). The median overall utility value was 0.70 (IQR 0.50-0.90), similar to moderately severe chronic health conditions. Utility estimates varied based on the DSD scenario presented (0.80 CAH vs. 0.70 MGD vs. 0.80 PAIS, p = 0.0006), respondent gender (p < 0.0001), race (p = 0.002), religion (p = 0.005), and prior knowledge of DSD (p < 0.0001). Reported concerns included gender identity (23.4%), urinary function (20.5%) and surgical complications (17.4%). Most (67.5%) supported early surgical intervention at 6-18 mo; 10.4% thought surgery should occur ≥18 y.

Limitations of this study include that survey participants were aware of the nature of the study, thus some respondents may have participated to skew the results. Given the nature of this pilot study, the representation of families with children with DSD within the study is severely limited given the rarity of DSDs. This means that their opinions may be diluted by the large sample size. However, because utility values are classically estimated according to community opinions, the utility data presented should be taken to reflect that of the specific sample studied and is not reflective of that of families with a vested interest in such cases.

Community-based respondents perceived that DSD conditions were associated with a reduction in utility values (0.70-0.80), on par with moderately severe chronic health conditions. Estimates varied based on respondents' gender, race, religion and prior knowledge of DSD. Gender identity was the most concerning aspect for respondents.