IMPE Abstracts

Introduction: CPP is the onset of secondary sexual characteristics before the age of 8 years for girls, due to early activation of the hypothalamic-pituitary-gonadal axis. Near 90% of girls have idiopathic CPP, in rare cases, CPP may occur due to intracranial pathology causing organic CPP. Brain Magnetic Resonance Imaging (B-MRI) with gadolinium is the tool to exclude organic CPP. There is controversy regarding the need for MRI testing in CPP girls whose puber...

Background: There are limited studies of growth and growth velocity (GV) after discontinuation of GnRHa in ICPP girls. Controversy exits about the growth after GnRHa especially regarding age of onset/end of treatment and onset of menses.Objective: To evaluate growth after GnRHa discontinuation up to final height (FH) by growth velocity analysis (GV), time of menarche (TM) and change of standard deviation of height for bo...

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...