ESPE Abstracts

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

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: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Background: Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic manifestation of metabolic syndrome. Accelerated catch-up in weight during infancy in subjects born term has been associated with increased risk for NAFLD in adulthood, but this association has not been studied in subjects born preterm.Objective and hypotheses: To investigate the associations of birth weight, gain in weight for length and accelerated catch-up in weight in the...

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

Background: In type 1 diabetes (T1D) adolescents it is necessary to design effective interventions to take care of their health and psychological problems. This leads to effective transition to an adult unit.Objectives: Evaluate the relationship of lifestyle with metabolic control in diabetic adolescents.Methods: Retrospective study of 42 T1D adolescents managed in a Pediatric Diabetes Unit. Patients completed a questionnaire on li...

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

Background: Over the last years a role for gastrointestinal hormones, such as glucagon-like peptide (GLP-1), in the pathogenesis of obesity and its complications, has been hypothesized. However, there are few data for the paediatric population.Objective and hypotheses: To assess whether there is a difference in post-load GLP-1 response in obese children compared to normal-weight peers and to assess the relationship with insulin responses.<p class="ab...