ESPE Abstracts

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

Background: Endogenous Cushing’s Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Introduction and Aim of the Study: girls with previous pediatric medulloblastoma (MB) are at risk of short stature and impairment of the hypothalamic pituitary gonadal function due to multiple risk factors;our aim was to assess the impact of hypergonadotropic hypogonadism (HH) on growth up to final height (FH) in females with or without growth hormone deficiency (GHD).Methods: anthropometrics (height-Ht-SDS, BMI-SDS, Tan...

Objective: Type 2 Diabetes Mellitus(T2DM)and obesity represent two major health hazards in children and adolescents, with rising prevalence. Several markers have been developed in order to diagnose T2DM and detect potential metabolic abnormalities.The objective of the study was to examine glucose tolerance in Greek children and adolescents and the differences in the glucose, insulin and c-peptide response curves between male and female children and adolescents...

Introduction: A positive correlation between the onset of T1DM and winter has been suggested by studies conducted in different countries.Objective: To investigate the seasonal variation of T1DM diagnosis and additional epidemiological parameters in children from Western Greece diagnosed with T1DM.Methods: 105 patients, 44 males and 61 females, aged 1 to 16 years (mean: 8.2±4 y...

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

Background: McCune-Albright syndrome (MAS; OMIM#174800) is a rare disorder hallmarked by the triad fibrous osseous dysplasia, cafè-au-lait skin spots and endocrine hyperfunctions, usually peripheral precocious puberty. It is caused by post-zygotic activating mutations at R201 codon of the GNAS gene, which lead to a somatic mosaic state; the clinical manifestations of MAS are highly heterogeneous due to variability of mutation abundance among affected tissues.<p class=...

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

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...