ESPE Abstracts

Background: Congenital sodium diarrhea (CSD) is a monogenic disorder caused by specific genetic defects that increase sodium content in the stool, resulting in intractable diarrhea. There are two categories of CSD depending on whether it involves other congenital malformations: non-syndromic congenital sodium loss diarrhea (non-sCSD) and syndromic congenital sodium loss diarrhea (sCSD). For non- sCSD, the identified causative genes include SLC9A3 and GUCY2C, w...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterized by diazoxide-responsive hyperinsulinemic hypoglycemia in the neonatal or infancy periods. These patients have severe protein (especially leucine) sensitivity. HADH mutations are recessively inherited with less than 50 patients reported so far. The mechanism behind unregulated insulin secretion in SCHAD deficiency is not understood but may involve changes in protein-protein interactions with glutamate deh...

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...

Background: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic Congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p23.1, the CYP21A2 gene is partially overlapped by the TNXB gene and reside in tandem with their highly homologous corresponding pseudogenes (CYP21A1P and TNXA), which leads to recurrent homologous recombination.Methods and Results: The genetic s...

Background: The Best Practice Tariff (BPT) was introduced in England in 2011–2012 to improve paediatric diabetes care. An enhanced amount is paid based on the attainment of 14 standards.Objective and hypotheses: We describe the experience of a District General Hospital working with the new Tariff, including the structural changes and the effect on diabetic control.Method: We observed the changes to the local service since the ...

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. These models confirm that IGF-1 (and IGF-1 SDS) varies during the dosing interval. One critical clinical and research issue is when to optimally ...

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...

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...