ESPE Abstracts

Introduction: The ongoing LIFE-MILCH project (www.lifemilch.eu), focuses on detecting EDCs in mothers, in breast milk (BM) and in urine, and in infants from birth up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distances, life-style sources (questionnaires) of exposure to establish a risk assessment model to prepare safety guide...

Introduction: Gestational diabetes mellitus (GDM) is a common problem in pregnancy with metabolic consequences for the fetus and the postnatal period. The aim of this study was to investigate the effects of GDM on mitochondrial structure and function in cord blood mononuclear cells and placental tissue, and the relationship between clinical data and mitochondrial dynamics.Method: In this prospective cohort study, singlet...

Objective: Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21, which also be called Xp21 contiguous gene deletion syndrome. Patients with CGKD present with features characteristic for adrenal hypoplasia congenita (AHC), glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD) and sometimes intellectual disability or hyper...

Introduction: Congenital hyperinsulinism (CHI) is a rare condition often caused by variants in genes that regulate insulin production. Among the 30 genes identified, CACNA1D, which encodes L-type calcium channels in various cells, is a rare cause. Variants in CACNA1D lead to a multisystem disorder characterized by developmental delay, intellectual disability, autism, hypotonia, seizures, primary aldosteronism, CHI, hearing loss, visual issues...

Background: Congenital hyperinsulinism (HI) results in hyperinsulinemic hypoglycaemia in infants; a significant risk factor for brain injury due to neuroglycopenia and the suppression of alternative neuroprotective mechanisms such as ketogenesis. Neuronal damage can occur in both transient and persistent HI, with worse neurodevelopmental outcomes reported in those who receive a delayed diagnosis. There is currently no method for screening for HI and neuronal d...

Introduction: Patients with hyperinsulinism suffer recurrent and severe hypoglycaemia. Inpatient glucose monitoring is currently via intermittent, infrequent fingerprick self-monitoring blood glucose (SMBG), and risks missing hypoglycaemia between tests. Continuous glucose monitoring (CGM) offers a supplementary therapy which may identify unexpected hypoglycaemia and ultimately reduce total exposure. However, CGM has never been evaluated for its efficacy in th...