ESPE Abstracts

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

Objectives: Current safety data do not indicate an association of GH therapy with increased risk for development/progression of tumours, or worsening of congenital cardiac conditions in individuals with Noonan syndrome (NS); however, data are limited. This report describes real-world safety data on GH therapy in paediatric patients with NS.Methods: Two complementary non-interventional, multicentre studies, NordiNet IOS (NCT00960128) and ANSWER Program (N...

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...

Background: In contrast to monogenic diseases, contiguous gene syndrome (CGS) describes a clinical phenotype caused by a deletion or duplication of several neighbouring genes. Angelman or Williams-Beuren syndrome are examples demonstrating that deletion of several adjacent genes causes a complex clinical syndrome. However, CGS are very rare events in pediatric endocrinology, and require knowledge of clinical associations pointing towards specific potentially affected genes in ...

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Background: Mutations in the PPARG gene, encoding peroxisome proliferator-activated receptor-gamma (PPARG) are associated with Familial lipodystrophy type 3. PPARG regulates fatty acid storage and glucose metabolism. The genes activated by PPARG stimulate lipid uptake and adipogenese by fat cells. In cases of lipodystrophy and defects of adipogenesis lipoid accumulates ectopically in the liver, skeletal muscle, pancreas and cardiovascular tissues and impairs the function of th...

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: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...