ESPE Abstracts

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...

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...

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 ...

Background: In mammals, maternal glucocorticoids are transmitted through breast milk, particularly under stressful circumstances. In humans, it is unclear whether milk cortisol levels are dependent on stressful perinatal circumstances, such as preterm birth.Objective and hypotheses: Our aim was to compare cortisol concentrations in breast milk of mothers of very preterm infants (GA <32 weeks) to breast milk cortisol concentrations of mothers of full-...

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

The ‘Developmental Origins of Health and Disease’ (DOHaD) hypothesis encapsulates the relationship between pre- and perinatal exposures causing altered growth and the development of later life disease. Mediators of this relationship have not been fully defined. We have used zebrafish [ZF] (Danio rerio) as a potential model for DOHaD, modifying expression of grb10a, an adapter protein that interacts with the insulin and IGF receptors, to act as a negative r...

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...

Introduction: The optimal level of 25-OH-Vitamin D in children is not clear since most studies have been performed on adults. Creating normal levels is problematic since the recommended level of vitamin D is based on the effect of vitamin D on other parameters and not upon its level in the population.Methods: This is a "big-data" study in which we analyzed Vitamin D tests from 49,935 children sampled in Clalit He...