ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality presenting with rapid onset of obesity in early childhood. An immune-inflammatory aetiology has been postulated; however, the immune profile is not well described.Case report: We report the case of a five-year-old female who presented in respirato...

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

Background: Pathologic mutations in RAI1 gene (typically microdeletions) cause SMS. Patients have characteristic physical appearance, developmental delay, sleep disturbances, and obesity; without hypothalamic dysfunction. Thaker et al published a case of a child with clinical diagnosis of ROHHAD with a mutation in the RAI1 gene (c.3265C>T: p.R1089X) found by whole exome sequencing. He had a physical appearance consistent with SMS and sleep cycle di...

A new condition, unique to Irish Travellers, was first described clinically as autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD) ORPHA:75391 in 2008 and was attributed to recessive founder variant in MCM4/PRKDC gene in 2012. Irish Travellers are an indigenous endogamous population numbering ~40,000 in the Republic of Ireland. AR-NKGCD is characterised by short stature, glucocorticoid and natural killer cell deficiency and is a disorder of DNA repair. ...

Introduction and aims: MEST (Mesoderm-specific transcript), a candidate gene for Silver-Russell syndrome, is a paternally expressed imprinted gene that positively regulates foetal growth. MEST has also been shown to promote adipose tissue expansion in conditions of positive energy balance. In this context, our objective was to study the possible relationship between placental MEST gene expression and postnatal growth and obesity para...