ESPE Abstracts

Growth failure is the gateway to a myriad of childhood and adolescent diseases. In the majority of cases, growth retardation is said to be constitutional after a detailed diagnostic evaluation. In the literature, there is a high degree of heritability of height (> 80%), underlining the predominant role of genetic factors.Objective: To identify new causes of growth retardation in 61 patients with constitutional familial short stature b...

There is a variety of unilateral adrenocortical tumors (ACT) and bilateral nodular adrenal hyperplasias that can be responsible for Cushing’ syndrome. Before puberty the most frequent are adrenocortical cancer (ACC) or micronodular adrenocortical hyperplasia (MiAH). The most classic form of MiAH is primary pigmented nodular adrenocortical dysplasia (PPNAD), diagnosed in more than two-third of Carney Complex patients. In adults adrenocortical adenomas (ACA) and primary bil...

Background: There are currently no specific growth charts for use in Nigerian children over the age of 5 years. Health workers rely on charts developed by the Center for Disease Control for children in USA (2000CDC US) or the UK 1990 growth charts for British children. It is unknown whether Nigerian children grow to the same height or at the same tempo as American or British children.Objective and hypotheses: To compare the growth of the Nigerian child t...

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

Background: While non-autoimmune T1D is rare in late childhood, few monogenic causes have yet been identified.Objective: 1) to identify the genetic basis of the yet unreported disease phenotype associating late childhood antibody-negative T1D, short stature, optic atrophy (OA), Pelger-Huët anomaly (PHA) of leukocytes and recurrent liver cytolysis: the “DISOPHAL” syndrome; 2) to attract comparable cases for further genetic investigation.</p...

Introduction: Genetic markers associated with the response to recombinant human GH (r-hGH) have been identified in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) children in the PREDICT long-term follow-up (LTFU) prospective study (NCT00699855).1 A validation (VAL) study (NCT01419249) was conducted to confirm association.Methods/design: Inclusion criteria for GHD and TS children were identical in the LTFU and VAL studies (GHD defined...

Background: Single nucleotide polymorphisms (SNPs) associated with the response to GH therapy have previously been identified in growth hormone deficient (GHD) children in the PREDICT long-term follow-up (LTFU) study (NCT00699855).Objective and hypotheses: To assess the effect of GHD severity on the predictive value of genetic markers of growth response.Method: We used pre-pubertal GHD children (peak GH <10 μg/l) from the ...

Background: Prediction of response to recombinant GH (r-GH) is currently based on regression modelling. This approach generates a prediction equation which can be applied to data from an individual child. However this method can underestimate the effect of inter-dependent variables. Random forest classification (RFC) is an alternative prediction method based on decision trees that is not sensitive to the relationships between variables.Objective and hypo...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Tissue sensitivity to glucocorticoids is characterized by significant inter-individual variation in terms of therapeutic response and susceptibility to several stress-related disorders. Proteomics approaches, combined with appropriate bioinformatics analysis, offer a comprehensive description of molecular phenotypes with clear links to human disease pathophysiology.Objective and Hypotheses: To investigate the usefulness of pl...