ESPE Abstracts

Introduction: Lack of systematic evaluation for pubertal disorders leads to unnecessary work-up and treatment in physiological cases while missing out pathological cases. Developing a point-of-care tool to allow systematic evaluation of such cases is desirable as it allows early identification and referral.

Aim: To develop a web-based tool to guide evaluation in children presenting with pubertal disorders.

Method: A validated algorithm was developed to allow stepwise evaluation in children with pubertal disorders using key clinical inputs (age, height, weight, parental heights, and pubertal assessment by Tanner method) and bone age (self-reported or assessed). The guidance provided by the tool was validated against the clinical diagnosis in 184 children presenting with pubertal complaints to our Pediatric endocrinology clinic from January 2021 to May 2024. Upon entering the required input, the tool provides the interpretation of puberty as: normal, precocious puberty, central precocious puberty, peripheral precocious puberty, peripheral precocious puberty with central trigger, rapidly progressive precocious puberty, slowly precocious puberty, isolated thelarche, precocious pubarche, isolated vaginal bleeding, delayed puberty, self-limited delay in puberty, delayed puberty due to underlying systemic illness, primary amenorrhoea; and the tool guides about further investigations for evaluation of the condition.

Results: The diagnosis given by the tool was concordant with the clinical diagnosis in 175 cases (95.1%). In the remaining 9 cases, investigations suggested by the tool would have allowed in reaching the final diagnosis. Discordance affecting clinical management was seen in none of the cases. Among the cases were 54 children with normal pubertal development, 78 girls with precocious puberty, 21 girls with delayed puberty, 19 boys with delayed puberty and 12 boys with precocious puberty.

Conclusion: The diagnosis and guidance provided by the tool were highly concordant with clinical diagnosis. Its widespread availability is expected to allow early and correct diagnosis of pubertal disorders while limiting the cost of investigations in those where unnecessary.