ESPE Abstracts

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children caused by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Dasiglucagon is a glucagon analog (stable liquid formulation) suitable for continuous subcutaneous infusion shown to raise blood glucose in a dose-dependent manner. Result...

We present two cases in which we would like to point out the similarity of the clinical manifestation of the rare syndromes and the need for rigorous genetic analysis in detecting the origin of the disease. First patient is 2 years old boy examined due to severe muscle hypotonia, psychomotor delay and severe growth retardation (SDS of height -2,6). He was born as small for gestational age. Hypopituitarism was excluded. His phenotype strongly resembled Silver Russell syndrome, ...

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children. CHI is characterized by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Current treatment options are limited and inadequate. Dasiglucagon (DASI) is a glucagon analog suitable for continuous subcutaneous infusion which has been shown to raise...

Aim: Insulin resistance is known to be closely related to the development of obesity and type 2 diabetes, whereas transient insulin resistance is part of the physiological developmental processes during pubertal years. However, insulin resistance might have detrimental effect on growing bone and bone mineral accrual. The aim of the present study was to identify whether increase in insulin resistance during pubertal years contribute to bone mineral characterist...

Introduction: Carbohydrate restriction (CH-R) in adolescents with obesity results in faster BMI reduction and glucose metabolism improvement than diets with normal carbohydrate proportion, without a higher weight regain in the short term. However, data on weight and metabolic trajectories of these patients after a more prolonged follow-up are sparse.Objectives: To evaluate metabolic and body composition evolution during ...

Background: Many cross-sectional studies have demonstrated that serum testosterone concentration is an important biochemical predictor of bone mineral density in young males, but to our knowledge, no longitudinal studies have been carried out to support these cross-sectional data.Aims: to examine the associations between serum testosterone concentration at the age of 12 and the following gain in bone mineral density unti...

Background: Individuals born with a 45,X/46,XY karyotype can present with diverging phenotypes from normal male, Turner-like to ambiguous genitalia, the latter classically being called mixed gonadal dysgenesis. No correlation between phenotype and degree of mosaicisms in the karyotype could be ascertained so far, making clinical management of these patients difficult.Objective: To understand, if androgen action through the androgen receptor (AR) is compr...

Background: Nutrient deprivation during early development has been associated with the predisposition to metabolic disorders in numerous epidemiological studies. Experiments with rodents also indicate a developmental plasticity of neuropsychological characteristics following alterations of early postnatal nutrition.Objective: Considering its interaction with metabolism and regulation of appetite and behavior, the endocannabinoid system (ECS) may represen...

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...