Transition from intrauterine to extrauterine life is a vulnarable time and needs special attention by health professionals. Although only a small group of infants are at-risk for transitory, recurrent or permanent hypoglycemia prompt diagnosis and effective treatment had to avoid permanent brain injury. Neonatologists are aware of hypoglycemia in premature as well as in small for gestational age infants, however lower limits of blood glucose are often debated with endocrinologists and metabolic experts. Persistent hypoglycemia are mainly due to rare genetic disorders, resulting from a defect of insulin secretion of insulin, adrenal or pituitary insufficiency or defects in the metabolism of carbohydrates, proteins or lipids. Hypoglycaemia due to Congenital Hyperinsulinism (CHI) is of particular importance due to missing alternative energy sources. Insulin suppresses glucose production degradation of lipids and ketone bodies. CHI is a heterogeneous condition with variability in presentation, investigation and treatment. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation analysis of both components of sufonylurea channel gene is considered standard of care (soc). Localization diagnosis is recommended in all cases with mutation-positive results. In 2003 Otonkoski et al. described [18F]F-DOPA-PET as an accurate method to detect pancreatic hyperfunctioning focal area. Further modifications using hybrid technology of [18F]F-DOPA-PET-CT were developed and a high sensitivity had been described by expert centers. In these infants curative lesionectomy have improved clinical management significantly. In contrast, in diffuse and atypical CHI many uncertainties remain. Remarkable progress has been made in the management of CHI led to a considerable reduction of the frequency of subtotal pancreatectomy. The understanding of the pathogenesis of CHI led to a personalized management. Up to now, soc consists of frequent feeding, dietary management, diazoxide and somatostatin analogues. In addition, the development and authorisation of orphan medicines for rare diseases had been facilitated and industry-driven clinical studies with a variety of substances had been initiated.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology