ESPE Abstracts

Background: Atypical genitalia represents an important medical and social emergency. Lack of training in Pediatric Endocrinology and restricted access to Pediatric Endocrinologists makes developing tools for point-of-care guidance for children with atypical genitalia desirable.

Objective: To develop and validate a point-of-care mobile application to guide the assessment of children with atypical genitalia.

Study Design: We developed the DSD interpreter, a mobile application-based tool to provide algorithmic guidance for the evaluation and classification of children with atypical genitalia based on critical clinical (the presence of gonads, Mullerian structures, and maternal virilization) and targeted investigations. The interpreter guidance was validated against two pediatric endocrinologists, a neonatologist, a pediatrician, and a pediatric trainee management in children with atypical genitalia presenting to the Pediatric Endocrine Clinic of our hospital from January 2020-December 2023 (n = 55, 6 with normal genital aberrations not warranting work-up for DSD, 21 XX DSD, 27 XY DSD, 1 ovotesticular DSD).

Results: The concordance score for experts (77.1% and 87.5%) was significantly greater than that for neonatologists (69.2%), pediatricians (64.1%), and trainees (38.5%). The DSD interpreter’s guidance corroborated with initial classification in all cases. The diagnosis of CAH variants requiring urgent management (n = 20) was erroneous in 13 (65%) subjects in the neonatologist’s group, 15 (75%) subjects in the pediatrician group, and 14 (70%) in the trainee group. Major discordance with therapeutic implications was observed in 84 instances for nonexperts (18.3%). The interpreter's guidance would have helped rule out children who did not require work-up for DSD. It would have established the correct clinical diagnosis in all 21 cases with XX DSD (100%) and 23 XY DSD (85.2%) at the initial point. The interpreter's guidance on further evaluation would have established the diagnosis in all four children with XY DSD (XX male, Smith-Lemli-Optiz syndrome, DHX37 mutation and one case with XY classified as 5 alpha reductase deficiency based on the biochemical profile, where genetics confirmed partial androgen insensitivity syndrome).

Conclusion: The findings of our study confirm the accuracy of DSD interpreter in guiding the evaluation of children with atypical genitalia. The widespread availability of a simple tool accessible on an offline mode is expected to allow the early and correct diagnosis of children with atypical genitalia. There is a need for multicentric validation before widespread use.