ESPE Abstracts

Background: Mounting evidence points to an association between increased glucocorticoid (GC) action and weight gain. However, the response to GCs is not only determined by GC serum concentrations, but also by individual differences in tissue-specific sensitivity, influenced by genetic and acquired (e.g. disease-related) factors. The extent to which differences in GC sensitivity may influence development of (abdominal) obesity, or vice versa, is poorly understo...

Introduction: Pituitary adenoma (PA) in childhood is a rare disease, accounting for 3 % of all intracranial paediatric neoplasm, and between 3 to 6% of all PA. There are only few large studies describing paediatric pituitary adenoma and even fewer studies with long-term outcome.Methods: In this retrospective study, clinical, biochemical and radiological parameters and outcome of paediatric patients (<16 years...

Background: Hypothalamic-Pituitary–Adrenal (HPA) axis suppression is common during inhaled corticosteroid (ICS) treatment of asthma, and deaths due to adrenal crisis are described. Little is known about the optimal treatment or recovery of ICS induced HPA axis suppression.Aims: To describe the treatment and outcomes of children with ICS induced HPA suppression diagnosed on the low dose short Synacthen test (LDSST).Method: The ...

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...

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,...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...

Background: Lanreotide is a long acting somatostatin analogue that has been used successfully in the treatment of congenital hyperinsulinism (CHI) in patients who are unresponsive or intolerant to diazoxide. Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent CHI on Lanreotide therapy, who developed recurrent hypoglycaemia following Fluoxetine therapy.Ca...

Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Poland’s syndrome and ...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

Introduction: Type 1 diabetes is frequently accompanied by other autoimmune diseases that can sometimes be integrated into autoimmune polyendocrinopathies. Through this work, we sought to describe the association of autoimmune diseases with type 1 diabetes in children.Patients and Methods: This is a retrospective and descriptive study, including 354 type 1 diabetic patients hospitalized in the Department of Endocrinology...