ESPE Abstracts

Introduction: McCune - Albright syndrome is rare genetic disorder characterized by periphereal precocious puberty, fibrous bone dysplasia and cafe au lait skin spots.Case: Almost 5 years old girl was sent to Endocrinological department due to precocious thelarche and menarche. At the time of first examination, patient had breast M 3 and large cafe au lait macule on the right tight, no pubic and axilar hair was present, n...

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

Context: Children with Prader-Willi syndrome (PWS) generally have mild to moderate cognitive impairment with an IQ between 60 and 70. Growth hormone (GH) treatment is a registered treatment for children with PWS and has been associated with cognitive benefits, attributed to the effects of GH and insulin-like growth factor on brain growth and development. Short-term data suggest positive effects of GH treatment on cognitive functioning in children with PWS. The...

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

Context: Infants and toddlers with Prader-Willi Syndrome (PWS) have a mental and motor developmental delay. Short-term data suggest a positive effect of growth hormone (GH) on mental and motor development in infants and children with PWS. There are, however, no longer-term results about the effects of GH treatment on mental and motor development.Objective: To investigate the longer-term effects of GH on psychomotor development in infants and toddlers wit...

Background: The disturbance of the GH-IGF-axis in type 1 diabetes (T1DM) with low circulating IGF-I, GH hypersecretion, and hyperinsulinemia, which may be associated with high tissue IGF-I, have implications on long-term vascular complications.Objective and hypotheses: To establish disease, sex and age related serum IGF-I reference values for children with T1DM and test the hypothesis that IGF-I SDS is lower in T1DM than in healthy controls and negativel...

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....

Background: Childhood obesity is still increasing worldwide. Early recognition of overweight or obesity in children by healthcare professionals is of utmost importance, allowing interventions to start at a young age.Objective and hypotheses: We studied whether healthcare professionals adequately perceive preschool children’s overweight and whether this is influenced by their own BMI.Method: Healthcare professionals received a ...

Background: Since 1975 the prevalence of obesity has tripled. As one of the habits of a healthy lifestyle is to reduce the fast sugars in our meals, the supply of non-nutritive sweeteners in the food supply has increased by offering sweeter meals without extra calorie intake.Objectives: To explore the characteristics of students and young adults’ lifestyle habits and consumption of non-nutritive sweeteners and their...