ESPE Abstracts

Background: Precocious puberty is defined as pubertal development that begins at an earlier age than expected; most paediatric endocrinology subspecialists use cutoff ages of 8 years for girls and 9 years for boys.Objective and hypotheses: We reported in this case, rare association between type 1 diabetes mellitus and precocious puberty.Method: We present a girl with type 1 diabetes developed at the age of 3 years, with good glycae...

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...

Objectives and Study: To compare the bone mineral density (BMD) between children with cow milk protein allergy (CMPA) and those who are healthy as control subjectsMethods: This study was carried out on forty children with cow milk protein allergy attending the Alexandria University Children's Hospital nutrition clinic and compared to forty apparently healthy children of matched age and sex as a control group. Anthro...

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...