ESPE Abstracts

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

Background: Fear of hypoglycemia is a major constraint on achieving a good metabolic control in T1D. Sensor augmented insulin pump therapy with threshold-suspended features (MiniMed 640G-SG) might alleviate burden of hypoglucemia and improve outcomes.Objective and hypotheses: Evaluate the effectiveness of this system to prevent day and night hypoglycemia and its impact on HbA1c in a pediatric population with T1D.Method: Descriptive...

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Background: Exercise programs are related to the anabolic function of GH/IGF-I axis.Objective and hypotheses: To analyse IGF-I, IGFBP-3 and ALS serum concentrations in adolescent swimmers at different stages of training season, and compare them with physical performance and body composition.Method: Nine male athletes, aged 16–19 years, who trained regularly throughout the season, were studied. IGF-I, IGFBP-3 and ALS were recor...

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. Those models were based on data collected during the ‘PKPD period’ (the second steady state dose of MOD-4023) and monthly values during...

Background: Survivors of childhood brain tumors (SCBT) are an emerging group that have premature mortality and morbidities that can negatively impact their quality of life and lifespan. Cardiovascular disease, obesity and diabetes are important causes of premature mortality in survivors, yet one of the major determinants of cardiometabolic risk i.e. visceral adiposity has not been determined in this group.Objective and hypotheses: This study is comparing...