ESPE Abstracts

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...

Glial cells are the most abundant cell type in the CNS. Although they were originally thought to only play a supportive role for neurons, it is now clear that glial cells are involved in all aspects of brain function. Understanding how glia, and in particular astrocytes, tanycytes and microglia, participate in the neuroendocrine control of metabolic homeostasis has come to the forefront in recent years. This is largely due to the observation that high fat diet-induced hypothal...

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Neonatal over-nutrition (NON) can have a long-term effects on energy homeostasis and some of these effects may be sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and cytokine levels throughout development and if these changes are sexually dimorphic. We hypothesised that the effects would be both age and sex dependant.Methods: At birth, Wistar rats wer...