ESPE Abstracts

Background: The hypothalamic leptin–melanocortin signalling pathway is a critical regulator of human appetite and weight regulation. Monogenetic defects in the POMC gene, the MSH ligand generating PC1 gene and the MSH receptor gene MC4R lead to severe early onset and leptin-resistant obesity. In PWS, where the function of genes such as MAGEL2 are impaired, the Magel2-/- mouse model revealed decreased POMC neuronal functioning as one c...

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

Introduction: The prevalence of childhood obesity is continuing to increase worldwide and has become a major health concern. There are a number of serious complications to childhood obesity with significant long-term health implications if not managed in a timely matter. These complications include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). At presen...

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...

Background: Hypoglycaemia in patients with a high concentration of insulin and low concentration of C-peptide can be secondary to administration of exogenous insulin. This often results in safeguarding measures, with significant consequences for the patient and family. We report a novel case of a patient with symptomatic hypoglycaemia. Initial results suggested high insulin and low C-peptide levels, but subsequent testing revealed a pro-insulin processing diso...

We recently assessed systolic heart function in children from IUGR and normal control pregnancies and reported early developmental impairment of left ventricular longitudinal strain – a sensitive echocardiographic measure – during the first 3 months of life in IUGR children. In accordance with previous studies, this suggest that the increased cardiovascular risk later in life imposed by IUGR/SGA may, at least to some extent, be primary and not entirely secondary to...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...