Communicating a new congenital hyperinsulinism diagnosis — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new congenital hyperinsulinism diagnosis means for their neonate who presented with hypoglycaemic seizures, why the hypoglycaemia was so dangerous, what the diazoxide and surgical options involve, the difference between focal and diffuse disease, and the recurrence risk for future pregnancies — while addressing guilt, the fear of surgery, and the search for a cure.

osce communication and shared decision-making3 min readVerification in progress

Prompt

The parents of a nine-day-old girl sit with you on the postnatal ward. She was born large for gestational age and developed severe persistent hypoglycaemia from 24 hours of age, presenting with a seizure and a glucose of 0.8 mmol/L. The critical sample confirmed congenital hyperinsulinism with a measurable insulin, suppressed ketones, and a positive glucagon response, and genetic testing is pending to distinguish focal from diffuse disease. She currently needs 14 mg/kg/min of glucose and has not yet responded to diazoxide. The parents are frightened, feel they did something wrong, have read about experimental gene cures online, and are terrified of surgery. Counsel them.

Task

Counsel the parents. You have five minutes. Demonstrate an organised, empathic, and accurate explanation that addresses the four questions a fellowship communication station rewards: why the hypoglycaemia was so dangerous and what happened to their daughter, what the immediate and longer-term plan is, what the diffuse-versus-focal distinction means for treatment, and what the recurrence risk and family implications are. The management and counselling framework follows the Pediatric Endocrine Society guidelines. [1]

Paediatrics Fellowship Pro

You have read the opening of this case. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References3Show ledger

[1]Thornton PS, Stanley CA, De Leon DD, et al. Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children. J Pediatr, 2015.PMID 25957977
[2]Kapoor RR, Flanagan SE, Arya VB, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol, 2013.PMID 23345197
[12]Garg M, Devaskar SU. Exploring the long-term impacts of neonatal hypoglycemia to determine a safe threshold for glucose concentrations. Eur J Pediatr, 2025.PMID 40119223