ESPE Abstracts

Background: Atherosclerosis begins in childhood and progresses silently. Triglycerides/HDL ratio(TG/HDL) is a risk factor for cardiovascular diseases.Objective and hypotheses: To investigate TG/HDL as possible predictive factor for metabolic disorders in children.Method: Descriptive correlation, with 110 children (6–12 years old) in Sparta, Greece. Anthropometric and biochemical analyzes were performed.R...

Background: Recent studies have suggested a role of IGF1 as a candidate prognostic marker for cardiometabolic complications of obesity.Objective: To investigate the relationship between IGF1 serum levels and both biochemical and metabolic parameters as well as body composition in a cohort of obese children.Methods: obese subjects (130F/157M), aged 11.2±2.7 years, were studied. Anthropometry, biochemical and metabolic parameter...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

Background: Infants born small (SGA) and large (LGA) for gestational age have been identified at increased risk of perinatal morbidity and later cardio-metabolic alterations. Nevertheless, the progression over time in incidence of SGA and LGA births is yet to be determined.Objective and hypotheses: To investigate temporal trends in SGA and LGA infants compared to those born appropriate (AGA), and to identify factors potentially associated over a 20-year ...

Background: GH transduction defect (GHTD) is characterised by severe short stature and impaired STAT3 phosphorylation, which is overcome by simultaneous induction of GHTD fibroblasts with 200 ng/ml GH and short interference mRNA CIS (GH200/siRNA) or with 1 000 ng/ml GH (GH1000) and is clinically expressed with ‘catch-up’ growth after rhGH treatment.Objective and hypotheses: The involvement of epidermal growth factor receptor (EGFR) in the succe...

Background: epidermal growth factor (EGF) stimulates cell growth and differentiation through its receptor EGFR. Cross-talking between the GH and EGF signaling pathways is important for normal cellular development. GH transduction defect (GHTD), a clinical disorder characterized by impaired STAT3 phosphorylation due to excessive GHR degradation, is caused by over-expression of the E3 ubiquitin ligase, CIS.Induction of GHTD fibroblasts with 200 ng/ml hGH (GH200) and silencing mR...

Background: Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) is characterized by neonatal salt loss, failure to thrive, dehydration and circulatory shock. It includes two forms: renal (autosomal dominant), due to mutations in mineralocorticoid receptor coding gene NR3C2, and systemic (autosomal recessive), due to mutations in subunit genes of the epithelial sodium channel (ENaC). ENaC is constituted of three subu...

Background: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively),...