(60) Genital exam findings and Gender Dysphoria: Review of a DSD clinic

Background: The observed incidence of gender dysphoria (GD) in individuals with differences in sexual development (DSD) ranges from 8.5% to 20%. Notably, those with simple virilizing congenital adrenal hyperplasia (CAH), 46 XX, exhibit the lowest rates. Current knowledge regarding predictors of gender dysphoria onset remains limited. This study aims to assess the prevalence of gender dysphoria in pediatric DSD patients using objective genitalia measurements as recommended by the DSD Translational Research Network (TRN).

Methods: A retrospective chart review was performed on patients aged 5-18 years in a multidisciplinary DSD clinic at a large tertiary pediatric hospital from January 2021 to April 2023. We reported patient demographics, karyotype, clinical diagnosis, physical exam findings, gender identity and assessment of gender dysphoria. Study approval was obtained from the IRB.

Results: In this study, thirty-three patients met inclusion criteria. The racial distribution was 60.6% Black (20) and 30.3% White (10). The most common diagnoses were CAH (24.2%, n=8) and complete androgen insensitivity syndrome (21.2%, n=7) (Figure 1). 24 (72.7%) subjects underwent a physical exam that included at least one genital measurement. The most frequently recorded objective findings were clitoral measurements (60.6%, n=20) followed by palpable gonads (27.2%, n=10), and the presence or absence of a urogenital sinus (21.2%, n=7) (Figure 2). Gender identity was assessed in 21 patients (63.6%), with 17 (81.0%) identifying as female. GD was noted in two patients (6.1%), both of whom had CAH, reared as female and had extended intervals of either loss to follow-up or poor compliance with medication. One patient displayed an enlarged clitoris and a UG sinus measuring 2.5cm. The second patient has not yet agreed to a genital exam.

Conclusions: Our study revealed a 6.1% rate of GD, which is at the lower end of that reported in previous literature. Both affected patients had poorly controlled CAH. While literature indicates a lower GD risk in CAH patients reared as female, virilized individuals might differ. We also noted lack of measurements in our genital exams and have now implemented a template utilizing the DSD TRN recommendations. We cannot draw any conclusions regarding our hypothesis due to the small sample size, but we hope that the expansion of data in our medical records will help elaborate on the understanding of this unique population and complex association with gender identity and dysphoria.