ESPE Abstracts

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

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...

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

Background: Liraglutide is a glucagon-like peptide analogue which was approved for use in children and young people as an option for managing obesity in December 20201. It is to be used in tier 3 services alongside a reduced-calorie diet and increased physical activity in children more than 12 years if they have a BMI SDS age-equivalent more than 30kg/m2 for adults. We describe our initial experiences of using liraglutide in a tier 3 paed...

Background: Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare syndrome with a high risk of morbidity and mortality. Blood glucose dysregulation is not widely recognised as a feature of ROHHAD and the mechanism is not well understood. We describe glucose dysregulation in two children with ROHHAD syndrome.Case 1: The patient presented at 6 years with rapid w...

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk. The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children with DS (41 boys), average age...

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...