ESPE Abstracts

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

Introduction: Standard dose for GH deficient children is 0.025 mg/kg per day given subcutaneously once daily. Inborn panhypopituitarism is a special subset of GH deficiency. Its management is difficult because several hormones need to be replaced. We present three patients with perinatal onset panhypopituitarism.Case reports: Case 1 is a 7-year-old boy who had hypoglycaemic seizure with reanimation due to circulatory arrest shortly after birth. Panhypopi...

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...