IMPE Abstracts

To describe the BMD at FH of well-controlled PKU patients we retrieved retrospectively, data from 18 compliant moderate/severe patients (7 female), under conventional treatment since diagnosis. Eleven had received sapropterin dihydrochloride (BH4) since puberty, increasing their phenylalanine intake. FH, mid-parental height (MPH), genotype, fractures, and tolerance to phenylalanine intake (tol) before and after BH4 were considered. Total Body (TB) and Lum...

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...