hrp0098p1-163 | Growth and Syndromes 2 | ESPE2024

Real-world utility of diagnostic gene panels for severe childhood growth failure and multiple pituitary hormone deficiency in the UK

BN Lim David , McCelland Louise , Page Suzanne , Connolly Melissa , Owens Martina , Bowles Chris , Palau Helena , V Maharaj Avinaash , Ishida Miho , L Storr Helen , H Davies Justin

Background: In selected cohorts, a genetic cause is found in up to 40% of children presenting with severe short stature (height <-3 SDS) and 30% with multiple pituitary hormone deficiency (MPHD). Since 2020, to inform diagnosis and tailor management, three NHS England genomic laboratory hubs (GLHs) have offered clinicians access to gene panels as part of routine care for short stature: R147 ‘Growth failure in early childhood’ (e...