ESPE Abstracts

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

Background: Data regarding the prevalence of metabolic syndrome (MS) in Greek adolescents and the effect of school interventions are scarce.Objective and hypotheses: To study the prevalence of MS in a representative sample of Greek adolescents and evaluate the impact of a 6-month educational-behavioral intervention.Method: Cross-sectional anthropometric data ((height, weight, waist circumference (WC)), blood pressure (BP), fasting ...

Background: Optimising adherence to treatment in paediatric patients is important, since non-adherence may lead to incorrect interpretation of growth results and in the treatment course. It has been found that injection frequency is correlated with growth response and final height among children treated with rhGH.Objective and hypotheses: The main aim of this study was to evaluate IGF1 levels and growth velocity before and after a medical intervention in...

Background: Obesity in childhood and adolescence has reached epidemic proportions. Endothelial dysfunction, as a consequence of dyslipidemia, hypertension, insulin resistance and inflammation, imposes a substantial risk for the development of metabolic syndrome (MS) in childhood and compromises the health of the pediatric population by promoting premature development of atherosclerotic cardiovascular disease.Aim: To inve...

Objective: Compare HOMA-IR between obese and normal weight children.Methods: 292 children (156 females), BMI (≥0SD), Tanner stage 1/>2: 163/129, divided in four groups (Group 1: 0SD<BMI<2SD, Group 2: 2SD≤BMI<2.25SD, Group 3: 2.25SD≤BMI<2.5SD, Group 4: BMI≥2.5SD) were analyzed retrospectively from the medical records. Age, sex, fasting blood glucose and insulin as well as the ho...

Objective: Compare triglycerides, total cholesterol, HDL and LDL levels between obese and normal weight children.Methods: 547 children (286 females) with BMI (≥0SD) were divided in four groups (Group 1: 0SD<BMI<2SD, Group 2: 2SD≤BMI<2.25SD, Group 3: 2.25SD≤BMI<2.5SD, Group 4: BMI≥2.5SD) and analyzed retrospectively from the medical records. Age, sex, BMI z-score, triglycerides, tot...

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...