ESPE Abstracts

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

Aim: Childhood obesity has become extremely important issue worldwide. The aim of this study was to determine associations between data from bioimpedance analysis with the antrophometric measurements and biochemical results obtained from children and adolescents with severe obesity.Study population and Methods: Study group consisted of 128 children recruited in four regional reference centers including 70 girls (54.7%) a...

It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity (corresponding to an adult BMI > 40 kg/m2). However, in risk stratification, the occurrence of metabolic complications is more important than BMI itself. The study aimed to assess the occurrence of cardiovascular risk factors in a cohort of children and adolescents with severe obesity.Patients and Methods: The analysis included 140 patients (75 ...

Background: Fatty liver disease in children and adolescents is the most common cause of chronic liver disease in many countries. Criteria for a diagnosis of pediatric metabolic associated fatty liver disease (MAFLD) are based on hepatic steatosis in ultrasound, blood biomarkers or liver biopsy in association with one of the three criteria: excess adiposity (overweight, obesity or abdominal obesity), prediabetes or type 2 diabetes, or evidence of metabolic dysr...

Background: Hyponatremia is one of the most common electrolyte disorders in hospitalized children and early diagnosis and management are crucial to prevent morbidity and mortality. Because of the physiological resistance to aldosterone under 3 months of age, the mechanisms leading to hyponatremia are often misunderstood.Objective and hypotheses: To assess the prevalence of hyponatremia in hospitalized infants younger than 100 days and evaluate the mechan...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...