ESPE Abstracts

Although craniopharyngiomas are of low-grade histological dignity and have good prognosis in terms of overall survival, survivors may suffer from devastating consequences caused by hypothalamic damage. Disease and/or treatment-related hypothalamic damage leads to disturbed hunger-satiety and thirst feelings, decreased energy expenditure, behavioral problems, disturbances of circadian rhythm, temperature dysregulation, and pituitary dysfunction. These patients are at great risk...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a...

Objectives: Despite high prevalence rates of childhood obesity, youth-onset T2DM occurs in a comparably lower incidence in Europe than in other world regions. Available data from cohorts of obese children and adolescents living in the US suggest a parallel decline of insulin sensitivity and β-cell function as key factors in the pathophysiology of early-onset T2DM. If these results can be applied to European children and adolescents is currently unknown.</...

Objectives: Impaired fasting glucose (IFG) is a risk factor for the development of type 2 diabetes in adults. In obese children and adolescents, IFG and impaired glucose tolerance constitute distinct prediabetic stages, which do not necessarily coexist. Pathophysiological mechanisms leading to IFG in children have not been fully elucidated. Available data from cohorts of obese adolescents living in the US suggest a concurrent worsening of insulin sensitivity a...

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...