ESPE Abstracts

Background: Recently, patients with severe obesity have been described due to functional leptin deficiency. This new entity is characterized by high immunoreactive levels of circulating leptin (Lep), but a reduced bioactivity of the hormone due to defective receptor binding (N Engl J Med 2015;372:48–54). Since these patients can be successfully treated with human recombinant leptin (metreleptin), a diagnostic tool to detect functional leptin deficiency is needed.<p cl...

Background: Daily injections are currently required for growth hormone (GH) replacement therapy, which may cause poor compliance, inconvenience and distress for patients. MOD-4023 is a CTP-modified human GH (hGH) developed for once-weekly administration in growth hormone deficient (GHD) adults and children.Objective and hypotheses: In the present Phase 2 study, the safety and tolerability of once-weekly subcutaneous (SC) administration of MOD-4023 were a...

Background: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed by OPKO Biologics for once-weekly administration in growth hormone-deficient (GHD) adults and children.Objective and hypotheses: The 24-month efficacy of once-weekly subcutaneous (SC) administration of MOD-4023 was evaluated in a Phase 2 study in G...

Background: Renal tubular acidosis (RTA) is an uncommon cause of growth failure and rickets. In Haiti, diagnostic evaluation and management is challenged by limited access to comprehensive diagnostic tools.Case presentation: An 8-year-old Haitian girl was evaluated at an academic referral center for bony deformations and bone pain, progressive over the previous six years. Her 2.5 year-old sister presented similar symptoms, associated with dental caries a...

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

Background: DKA in children and adolescents with established type 1 diabetes (T1D) is a major problem with considerable cost to patients, families and health care systems. Many consider it as a quality of care indicator and a failure of relationship between the care provider and the family/patient. Considerable variability in rates are recognized. We analyzed multicenter registry and audit data from five countries with similarly advanced, yet differing, health care systems.</p...

Background: The aim of this study was to examine plasma visfatin levels in pediatric patients with type 1 diabetes (T1D). Visfatin, a novel adipokine, is predominantly secreted by visceral adipose tissue and seems to have insulin-mimetic effects. It has not been studied in children and adolescents with type 1 diabetes (T1D) yet.Objectives: We studied 124 subjects; 62 patients with T1D: 31 girls, mean age 13.7±3.7 years; mean duration of diabetes 5.9...

Background: GH replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) is being developed for once-weekly administration in GH deficient (GHD) children. In the present study the longer term pharmacokinetics (PK) and pharmacodynamics (PD) profile of MOD-4023 in GHD naïve children was assessed.Objective and hypotheses: To assess the long acting prope...

Background: Life expectancy of children with human immunodeficiency virus (HIV) has increased due to highly active antiretroviral therapy. Metabolic disorders and changes in bone mineral density (BMD) are common in adult patients with HIV. There are few studies evaluating metabolic and bone involvement in children.Objective and hypotheses: To evaluate metabolic disorders and BMD in vertically HIV-infected children in four Chilean hospitals.<p class="...

Background: In the last decade, an increase in the incidence of type 1 diabetes mellitus (T1D) has been observed worldwide, as well as an increase in the incidence of allergies in childhood. Both diseases are characterized by an imbalance between Th1- and Th2 cells. Autoimmune disorders are considered to be associated with a Th1 immune response while allergic diseases with a Th2 response. However, studies conducted to find a correlation between T1D and atopic diseases are hete...