Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome

Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent hypoglycaemic brain injury. Design: Four RSTS patients with HH were retrospectively analysed. Methods: Genetic investigations included next generation sequencing-based gene panels and exome sequencing.

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