ESPE Abstracts

Background: The gene expression microarray and morphoproteomics in diffuse congenital hyperinsulinism (CHI) revealed activation of the mammalian target of rapamycin (mTOR) pathway and the subsequent treatment of four diffuse CHI patients with sirolimus (mTOR inhibitor) avoided pancreatectomy.Objective and hypotheses: To further evaluate the mechanism of action of sirolimus by studying the expression of mTORC1/RagGTPase and IGF1R/mTORC2/Akt pathways in pa...

Background: Dominant mutations in ABCC8 can cause congenital hyperinsulinism (CHI), which is characterised by unregulated insulin secretion.Objective and hypotheses: To understand the molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations.Method: We investigated ten patients with diazoxide unresponsive CHI who required a near total pancreatectomy. DNA sequencing revealed seven dominant heter...

Background: Hyperinsulinaemic hypoglycaemia (HH) can be transient or permanent. Transient HH (spontaneous resolution of HH within few weeks) is associated with intrauterine growth restriction, maternal diabetes, erythroblastosis fetalis etc. Transient HH has not been reported with ABCC8/KCNJ11 mutations, which are the commonest cause of HH.Aim: Molecular characterisation of a novel ABCC8 mutation associated with a transient HH phenotype seen in a family ...

Background: Congenital Hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in the neonatal and infant period. It is most commonly caused by mutations in one of the KATP channel subunits, either SUR1 encoded by the gene ABCC8 or Kir6.2 encoded by the gene KCNJ11. Patients carrying mutations in the ABCC8 and KCNJ11 genes simultaneously have not been reported yet.Objective and hypotheses: Our aim was to describe the clinical pheno...

Background: Congenital Hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. To assess the pathogenic effect of novel ABCC8 mutations we performed in-vitro functional studies.Objective and hy...

Background: Achondroplasia, the most prevalent skeletal dysplasia in children, is a multisystemic disease resulting from a common mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation disrupts endochondral ossification, leading to disproportionate short stature. Historically, management has been primarily supportive due to the absence of targeted therapies. However, recent advancements have led to clinical trials for potential treatme...

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

Although widely prescribed for their anti-inflammatory and immunosuppressive properties, glucocorticoids have various common metabolic side effects including hypertension, dysglycemia, and diabetes. Proposed risk factors for steroid-induced dysglycemia and metabolic syndrome include cumulative dose, longer duration of steroid course, and high body mass index.Aim: This study was carried out to investigate the prevalence of different metab...

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...