ESPE Abstracts

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

Emerging in childhood and becoming increasingly prevalent to affect 40-50% of adults with cystic fibrosis (CF), CF-related diabetes (CFRD) is a common co-morbidity with the potential to negatively impact nutritional status, pulmonary function, and survival. Stymying interventions to preserve beta-cell function, the mechanisms underlying the progressive insulin secretion defects responsible for CFRD are poorly delineated. This meet-the-professor session will use case-based pres...

*Both authors contributed equally to this workBackground: Continuous Subcutaneous Insulin Infusions (CSII) or insulin pumps improve overall glycaemic control in paediatric populations. Children’s access to CSII may partly depend on socioeconomic status (SES), healthcare systems, and funding structures.Aim: The aim of our systematic review was to evaluate whether SES affects children’s a...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Background: A twin pregnancy with a coexisting complete hydatiform mole and a healthy fetus is rare, with an incidence of 1 in 22.000-100.000 pregnancies. Associated with this condition are potencially serious maternal and fetal complications.Case Report: A 32 year old pregnant woman presented with clinical features of hyperthyroidism, confirmed by laboratory. An ultrasound scan revealed a complete hydatiform mole (CHM) ...

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...

Background: Although metabolically obese normal weight (MONW) adults are at increased risk of type 2 diabetes and cardiovascular disease (CVD), little is known regarding MONW children.Objective and hypotheses: To characterize lifestyle habits and insulin dynamics of MONW children.Method: Caucasian youth (n=630) aged 8–10 years, with at least one obese biological parent, were studied (QUALITY cohort). We defined MONW c...

Background: Lifestyle interventions show a long lasting weight reduction in only 10–20% of obese children and adolescents. Leptin as one major player within the central regulation of food intake and energy expenditure is most likely to mediate the endogenous drive for weight regain.Objective and hypotheses: To estimate weight regain after weight loss and the role of leptin in regain.Method: We included 153 obese children/adole...

Background: Impaired glucose tolerance ((IGT), glucose ≥140mg/dl at 120’ in the oral-glucose-tolerance-test (OGTT)) is prevalent in childhood obesity. It is frequently reversed after weight loss, although an eventual role for metformin treatment has been postulated.Objective: To evaluate the benefits of metformin addition to conservative treatment on weight loss and IGT in obese children.Patients and methods: We studied ...