Validation of DSD Interpreter, a Mobile Application for Point-of-Care Evaluation of Infants with Atypical Genitalia.

OBJECTIVES

To develop and validate Disorders of Sexual Development (DSD) Interpreter, a point-of-care mobile application, to guide the management of infants with atypical genitalia.

METHODS

The DSD interpreter offers clinical guidance based on key clinical and diagnostic inputs. The retrospective validation involved comparing its guidance with that of two pediatric endocrinologists, a neonatologist, a pediatrician, and a pediatric trainee, against the final clinical diagnosis in 55 children with atypical genitalia (XX DSD in 21, XY DSD in 27, ovotesticular DSD in one, and DSD mimics in six).

RESULTS

The concordance score (maximum score 153) for DSD interpreter (145; 94.8%) and pediatric endocrinologists (141; 92.2% and 135; 88.2%) were higher than that for the neonatologist (106; 69.3%), the pediatrician (98; 64.1%), and the trainee (59; 38.6%). Agreement analysis showed highest agreement for DSD interpreter (Cohen's κ 0.913, 95% confidence interval 0.825-0.978) and lowest for the trainee (Cohen's κ 0.131, 95% confidence interval 0.048-0.220). Discordance in the final diagnosis was noted in four cases for the DSD interpreter (7.3%). The diagnosis of CAH variants requiring urgent management was erroneous in four subjects for the neonatologist and the pediatrician and nine for the trainee. The DSD interpreter guidance could have prevented 92.7% of the discordance observed in the non-experts.

CONCLUSIONS

These findings suggest the role of the DSD interpreter in the point-of-care evaluation of children with atypical genitalia across resource settings.