ESPE Abstracts

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth and spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells...

Background: Hyperuricaemia has been associated with increased risk of metabolic syndrome in adults and children. Elevation in serum uric acid (SUA) is hypothesized to be a critical initiator of the development of essential hypertension. The exact relationship between SUA and blood pressure (BP) has not been established in the pediatric population. We conducted a systematic review to evaluate the association between SUA and BP in well, obese/overweight and hype...

Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 pati...

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

Background: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

Background: Adequate sick day management at home may reduce the risk of progression to diabetic ketoacidosis (DKA) and admission to hospital. The UK does not have a consensus guideline for sick day management advice to children and young people with type 1 diabetes mellitus (T1DM). Children’s diabetes services vary in their practice of education and advice in the use of urine or blood ketone monitoring during illness.Objective and hypotheses: The ai...