ESPE Abstracts

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...

Background: The children had normal 21-hydroxylase screening. An atypical form of congenital adrenal hyperplasia was initially suspected. The first child (female) had hyponatremia, hyperkalemia, elevated ACTH, and elevated androgens at birth. The second child (male) presented at 16 days with hyponatremia, hyperkalemia, normal cortisol, very elevated renin, low aldosterone, and elevated deoxycortisol. The third (female) and fourth (male) siblings had similar electrolyte abnorma...

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...

Introduction: Impaired glucose tolerance and type 2 diabetes mellitus are known complications associated with childhood obesity. At present, an oral glucose tolerance test (OGTT) is the gold standard investigation. Continuous glucose monitors (CGM) are used in children and young people (CYP) with type 1 diabetes mellitus. The aim of our study is to investigate whether the use of a CGM is more effective in identifying glycaemic dysregulation, compared to an OGT...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

Background: Obese children with and without Type 2 diabetes have periodontal disease that relates to systemic inflammation. There is limited data on periodontal disease in children with Type 1 diabetes (T1D).Aim: We aimed to assess periodontal disease markers and its determinants in children and adolescents with T1D.Materials and Methods: Cross-sectional study including 73 children...

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

Introduction: GLP-1 receptor agonists (GLP1A) have been shown to be effective in achieving weight loss in adolescents with obesity and improve glycaemic control in type 2 diabetes mellitus (T2DM). We aimed to investigate the glycaemic alterations and satiety levels in patients treated with the GLP1A, liraglutide. To the best of our knowledge, this is the first study of its kind.Methods: In total, 22 patients managed in a...