Syndromic forms of hyperinsulinaemic hypoglycaemia—A 15‐year follow‐up study
Clinical Endocrinology Feb 04, 2021
Kostopoulou E, Dastamani A, Güemes M, et al. - In this systematic review of children with hyperinsulinaemic hypoglycaemia (HH) referred to in the tertiary centre, researchers sought to estimate the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. The sample consisted of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. This research highlights the correlation of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH‐associated syndromes should be observed for hypoglycaemia. If hypoglycaemia is known, potential HH screening should also be performed. The data suggest that most syndromic forms of HH are diazoxide-responsive and that HH resolves over time, but years after the onset of the disease, a large percentage continues to require medications. For the prevention of hypoglycaemic brain injury and intellectual disability, early detection of hyperinsulinism and treatment initiation is critical.
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