IMPE Abstracts

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: 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...

Introduction: Haematological malignancies represent the most frequent childhood cancer. Little is known about small ovarian follicle function at diagnosis in girls with acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML) or non-Hodgkin lymphoma (NHL). AMH is a useful marker of small follicles.Aim: To determine small ovarian follicle status at diagnosis and after 3 months of chemotherapy in girls and adoles...

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...