ESPE Abstracts

Background: The lack of systematic evaluation of growth disorders results in unnecessary workup for physiological causes while missing pathological causes. We have developed Bone-age assisted interpretation of growth (BIG), a web-based tool that provides guidance for diagnosis and management for children and adolescents with growth concerns.

Aim: To develop and validate BIG in growth disorders.

Design: Validated algorithms for growth disorders were loaded on the web portal and used to provide diagnostic guidance based on clinical inputs (height, weight, age, birth weight, pubertal status, sitting height, and parental height) and bone age (self-reported or assessed). The validation study was done on 200 children and adolescents with growth concerns (128 girls and 75 boys) presenting to our Pediatric Endocrinology Clinic from February 2023 to March 2024. The guidance provided by BIG was compared to the final clinical diagnosis. The level of discordance between BIG compared to the final diagnosis was assessed.

Results: The concordance score for BIG with clinical diagnosis was 95%, with discordance occurring in only 10 cases (5%). Discordance with management implications was observed in 15 subjects (7.5%). Among the subjects were 65 with normal growth, 29 with an endocrine pattern, 29 with a nutritional pattern, 31 with familial short stature (FSS), and 8 with constitutional delay of growth and puberty (CDGP). Additionally, underweight, overweight, and obesity were present in 16, 17, and 5 cases, respectively. BIG correctly predicted that 104 subjects did not require any workup. However, BIG missed diagnoses in 10 cases: 2 normal subjects were diagnosed as underweight and FSS, 3 with an endocrine pattern were diagnosed as CDGP and FSS, 2 with a nutritional pattern were diagnosed as FSS, and 2 with CDGP were diagnosed as having an endocrine pattern.

Conclusion: The diagnosis and guidance provided by BIG were highly concordant with clinical diagnosis, demonstrating its potential to prevent clinician discordances. The use of BIG would have averted missed diagnoses on the one hand and over-investigation on the other, providing a reassuring tool for the evaluation of children and adolescents with growth disorders.