ESPE Abstracts

Background: Obesity is a major feature in several syndromes. In patients with early-onset severe obesity, 7% harbour a single locus mutation.Objective and hypotheses: We report a 3.11 year old male patient with early onset obesity (BMI 29.9 kg/m2 >>P97), ongoing excessive weight gain, autoaggressive behaviour, and delayed speech development. No growth retardation or further dysmorphic signs. Early postnatal feeding difficulties require...

Background: Long-acting somatostatin analogues have been reported to be an effective treatment option to prevent severe hypoglycaemia in children with severe diffuse congenital hyperinsulinism (CHI). Possible side effects include gallstones, growth retardation and necrotizing enterocolitis (NEC), the latter occurring in particular cases of newborns treated with octreotide. So far only short-acting octreotide is being used in early infancy, requiring multiple injections daily o...

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

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...

Background: Aim of this study was to identify possible explanations why despite improved treatment options brain damage still occurs in neonates with transient or persistent hyperinsulinism. This study might serve as a basis for future research to improve the management of neonatal hypoglycemia reducing brain injury in these children.Material and Methods: A retrospective medical chart review was conducted at the Universi...

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

Background: In premature and small-for-date infants, immature adrenal enzyme activity, adrenal stress responses and impaired hepatic clearance may lead to mild to moderate false-positive increases of steroid hormone precursors. This complicates screening programs for congenital adrenal hyperplasia (CAH) in these patients.Objective and hypotheses: We present a preterm female infant (born at 33 weeks of gestation) who’s newborn screening 55 h after bi...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

Background: The liver is one of the most important organs in glucose metabolism and closely related to diabetes pathophysiology. Non-alcoholic fatty liver disease (NAFLD) is well known in type 2 diabetes mellitus (DM), but also adult patients with type 1 DM are at increased risk for NAFLD.Objective and hypotheses: Here, we studied the prevalence of liver disease in a representative number of children and adolescents with type 1 DM in Germany.<p class...