IMPE Abstracts

Background: Atypical genitalia represents an important medical and social emergency. Timely evaluation of children with atypical genitalia is central to reducing morbidity, mortality, and familial anxiety. 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.

Method: We developed a 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 the endocrinologist management in children with atypical genitalia presenting to the Pediatric Endocrine Clinic of our hospital from January 2020-November 2022 (n=37).

Results: The underlying cause of atypical genitalia included XX DSD (20; 21 hydroxylase deficiency in 16, aromatase deficiency in 2, 11 beta-hydroxylase deficiency, and XX male in 1), and XY DSD (17; gonadal dysgenesis in 3, one each with partial androgen insensitivity, 3 beta-hydroxysteroid dehydrogenase deficiency, 5 alpha reductase deficiency, 17BHSD deficiency, and Smith-Lemli-Opitz syndrome, and unclassified steroidogenic defect in 9). The interpreter's guidance was concordant with clinical management in all the cases. The interpreter established the correct clinical diagnosis in 19 subjects with XX DSD (95%) and 14 with XY DSD (87.5%) at the initial assessment. The interpreter's guidance would have established the diagnosis of the three children where initial classification was impossible (one each with XX male, Smith-Lemli-Optiz syndrome, and DHX7 mutation).

Conclusion: DSD interpreter provides validated point-of-care guidance for assessing atypical genitalia. There is a need for multicentric validation before widespread use.