ESPE Abstracts (2014) 82 P-D-2-3-479

The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis: What Can we do to Improve Diagnosis in the New-Born Period?

Lisa Troung & Paul Thornton


Department of Endocrinology and Diabetes, Congenital Hyperinsulinism Center, Cook Children’s Medical Center, Fort Worth, Texas, USA


Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.

Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting potential congenital hypoglycaemia conditions to see if there was evidence of the disease in the NBP and whether they could have been identified during that time.

Methods: We reviewed the new-born records of children identified outside of the NBP with hypoglycaemic disorders that would usually present during the NBP to determine if they had evidence of significant hypoglycaemia requiring i.v. glucose treatment at that time.

Results: Thirteen patients (four males) had either HI (7) or hypopituitarism (6) with pituitary malformation. Five (71%) of the seven HI patients had hypoglycaemia requiring treatment with i.v. glucose during the NBP. One had no risk factors to enable a diagnosis to be made and one had a strong family history of autosomal dominant diazoxide treated HI. Thus 6 or 86% of late presenting HI patients were simply missed congenital patients. Of the six hypopituitarism children all 6 (100%) had hypoglycaemia requiring treatment with i.v. glucose in the NBP. Thus 92% patients either had evidence of hypoglycaemia requiring i.v. glucose treatment in the NBP or a history that should have triggered glucose screening.

Conclusion: New-born infants requiring i.v. glucose to treat hypoglycaemia should have an investigation performed to determine the aetiology of hypoglycaemia prior to discharge from the neonatal unit. This could simply be done with a 6 h fasting study. Early identification of patients with serious hypoglycaemia disorders may lower the incidence of poor neurological outcome.

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