ESPE Abstracts

Background: Hypoglycaemia is a common metabolic condition affecting up to 15% of all neonates and 50% of neonates with risk factors including diabetic mothers, large or small for gestational age, perinatal stress, or prematurity. It is well known that severe and prolonged hypoglycaemia, as commonly seen in congenital hyperinsulinism, can lead to brain injury. However, data on the effect of mild neonatal hypoglycaemia on neurodevelopment are limited. There is s...

Background: Transient hyperinsulinism (THI) is a hypoglycemia disorder manifesting during the first days of life and usually resolving within the first weeks or months of life. Neonates exposed to pre- or perinatal stress have a higher risk to develop THI. However, the exact pathomechanism has not been elucidated yet. The objective of this study was to analyze the clinical and biochemical data of neonates with THI and a birth weight <1500 g.<p class="ab...

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

Background: Kabuki syndrome (KS) is a rare multiple congenital malformation and intellectual disability syndrome. KS is caused by pathogenic variants in the genes KMT2D or KDM6A. In 0.3-4% of patients, KS is reported to be associated with hyperinsulinemic hypoglycemia. The objective of this study was to characterize the clinical, biochemical and molecular data of children with KS and hyperinsulinemic hypoglycemia.<s...