ESPE Abstracts

Background: Turner syndrome (TS) is a common aneuploidy diagnosed by peripheral-blood-cell (PBC) karyotyping. Karyotyping is costly, time-staking and subject to manual errors. Quantitative real-time PCR (qPCR) is a cheap molecular diagnostic test which can detect several samples of TS within hours.Objective: To assess the performance of qPCR in detecting TS and variants.Methods: Ge...

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...