ESPE Abstracts

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

Introduction: Milk allergy is an adverse immune reaction to proteins in cow's milk. Treatment consists of eliminating milk from the diet. Controversy exists about the effect of CMA and the use of hypoallergenic formula on linear growth in these children.Objectives: To evaluate the growth status of children with CMA at their first presentation and after 6 months of hypoallergenic formula.<strong...

Background: Atypical forms of congenital hyperinsulinism in infancy (CHI-A) represent a novel subgroup of patients who present later in the neonatal period; have poor responses to medical intervention; an unremarkable histopathology and no known genetic cause of disease.Objective and hypotheses: To compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.<p clas...

Background: Congenital hyperinsulinism in infancy (CHI) is a neonatal disorder of uncontrolled insulin release leading to profound hypoglycaemia. In addition to defects in pancreatic β-cell function, we have recently demonstrated that the CHI pancreas is highly proliferative, with rates of proliferation up to 14-fold higher than in age-matched controls.Objective and hypotheses: As patients require pancreatectomy to alleviate hypoglycaemia, our aim w...

Background: Diffuse congenital hyperinsulinism in infancy (CHI-D) mainly arises from mutations in KATP channel genes. In addition, there are also several reports of increased cell proliferation in CHI-D. We hypothesised that the higher rates of proliferation in CHI-D are as a consequence of failure to terminate proliferation in the neonatal period.Objective and hypotheses: To test this we examined the proliferative index (PI) of CHI-D tissue a...

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

Introduction: Growth hormone deficiency (GHD) is a non-exceptional cause of short stature. Hormonal evaluation and hypothalamic-pituitary MRI are essential to establish the etiological diagnosis. The objective of our study is to assess the different pituitary lesions found in imaging in a group of children with GHD.Patients and Methods: This is a retrospective longitudinal study of 23 cases of GHD who underwent pituitary...

Introduction: The relationship between the level of vitamin D and the IGF1 is complex. A normal level of vitamin D is necessary for good bone growth. On the other hand, the normal growth process is affected by the excess or the deficit of growth hormone. Thus, the main purpose of our work is to demonstrate the particularity of the vitamin D status of patients with growth hormone deficiency compared to other causes of short stature.<stron...

Introduction: Statural delay is a common reason for consultation in Endocrinology. It is defined as a length less than 2 DS or a slowdown in growth rate. Etiological research involves anamnestic and clinical data. The biological and radiological explorations permitted to select a primary or secondary etiology taking into account the frequency of idiopathic stature delay. The aim of our work is to analyze the clinical, etiological and evolutionary profile of st...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders of various enzymes participating in the adrenal steroidogenesi. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH (90–95%). Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR defici...