ESPE Abstracts

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received ...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

Background: Non-classic congenital adrenal hyperplasia (NC-CAH) is caused by pathogenic variants of the CYP21A2 gene, and in most cases is not associated with cortisol deficiency as is the classic (severe) form. The majority of children with NC-CAH are asymptomatic and do not require cortisol replacement therapy with hydrocortisone unless they develop symptoms of hyperandrogenemia such as early pubarche, growth acceleration, advanced bone age, and ultimately s...

Background: Glypican-4 is a heparan sulphate proteoglycan. In addition to a membrane-bound glypican-4, a soluble form exists. Human and rodent adipose tissue were identified as source of circulating glypican-4. Glypican-4 serum levels are associated with obesity and insulin resistance, as in type 2 diabetes (T2D). Because of its positive effect on insulin sensitivity, glypican-4 might play a role in the development of obesity, insulin resistance, and T2D. We a...

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

22-month girl presented with 3 days of cough and fevers, 2 weeks of rhinorrhoea and frequent “clearing of throat” and 6 months of diaphoresis and growth spurt. On examination, she was flushed and diaphoretic with a large goitre. She had a low grade fever (T=37.9) with signs of cardiac compromise (bounding pulse sinus tachycardia [HR=200bpm]. She was hypertensive [BP=145/90mmHg] and tachypnoeic [RR=36/min] with respiratory distress and right-sided crepitations. She ha...

Background: Pediatric patients with germline pathogenic variants in the tumor suppressor gene PTEN frequently develop cancer and adipose tissue overgrowth in the form of lipomas. While the canonical function of the phosphatase PTEN is to antagonize the growth promoting PI3K pathway, non-canonical PTEN functions e.g. in the nucleus are less well described. To uncover the mechanisms leading to lipoma formation related to PTEN mutations, we previously performed R...

Background: There are international guidelines on screening for Microalbuminuria (MA) in children with Type1 Diabetes Mellitus (T1DM). But the National Paediatric Diabetic Audit, UK suggests that screening is missed in over 50% of cases. Further, there is little data on the management and natural course of MA in children by frontline units.Objective and hypotheses: To describe the prevalence, management and natural course of MA in children and adolescent...

Background: Cancer cells have a high NAD turnover rate due to their increased cell proliferation and DNA repair. Nicotinamide phosphoribosyltransferase (NAMPT) is the key enzyme of the NAD salvage pathway, a regulator of the intracellular NAD pool and of the activity of Sirtuins (SIRTs), a class of NAD-dependent deacetylases.Objective and hypotheses: Cancer cells are highly dependent on NAD and are expected to be more susceptible to an inhibition of NAD ...