hrp0095p1-423 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A case report investigating hereditary hypophosphataemic rickets with hypercalcuria (HHRH), a suspected novel mutation and the FGF23 ‘red herring’

Hester Holly , Mushtaq Talat

Objective: To explore the clinical manifestation of a case of hereditary hypophosphataemic rickets with hypercalcuria (HHRH), describe a potentially novel mutation and identify key learning points in the diagnosis and management.Background: Inherited forms of hypophosphoatameic rickets such as XLH have phosphaturia, often mediated by elevated FGF-23 levels and low or inappropriately normal 1,25 OHD levels. Conversely, in...

hrp0095p1-253 | Diabetes and Insulin | ESPE2022

Incidence and risk factors for paediatric diabetic retinopathy: case control for a tertiary hospital in Leeds, United Kingdom

Hester Holly , Adams Elizabeth , Kelleher Aoife , Yong James , Campbell Fiona

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...

hrp0095p2-2 | Adrenals and HPA Axis | ESPE2022

Retrospective cross-sectional study reviewing local practice in assessment of adrenal axis at a tertiary children’s hospital

Hester Holly , Hachemi Soraya , Amin Nadia , Alvi Sabah

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...