IMPE Abstracts

Introduction: Phaeochromocytomas and paragangliomas (PPGLs)are rare neuroendocrine tumors. The number of genetically determined PPGLs with specific variants rises to approximately 70%. The genetic status of patients with PPGLs is key for precision diagnosis, treatment and surveillance of affected patients and their families. Pathogenic gain-of-function variants in EPAS1gene, mainly as germline mosaicism or somatic mutations, cause its activation and l...

Background: Catecholamines and its O-methylated metabolites in urine are useful biomarkers for diagnosis of Pheochromocytoma and Paraganglioma (PPGL). Recently, liquid chromatography coupled to tandem mass spectrometry (UHPLC-MSMS) has become the technique that allows the development of analytical methodologies for the specific, precise, and simultaneous determination of different analytes.Objective: To develop and valid...

Recalled newborns in the screening for Congenital Adrenal Hyperplasia (CAH) could be due to analytical steroid interferences. Ultra-high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC-MS/MS) constitutes the gold standard for serum steroid quantification.Objective: To describe the serum profile of a panel of 8 adrenal steroids by UHPLC-MS/MS in recalled infants for CAH.Methods:</st...

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...