ESPE Abstracts

Synacthen tests are used widely in paediatric practice for diagnosis of AI. The standard dose test may be more specific and low dose test (LDSST), more sensitive. The LDSST requires dilution of commercially available Synacthen, which may result in unreliable dosing and over diagnosis of AI.Aim: To determine the prevalence of AI requiring treatment with hydrocortisone (a) daily (peak cortisol <350nmol/l) (b) on sick days only (peak co...

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

Background: Gonadal dysfunction and fertility impairment are some of the many clinical manifestations described among patients with Fanconi anemia (FA). Many who receive hematopoietic stem cell transplantation (HSCT) suffer additionally from infertility due to gonadal damage from their preparative regimen. The effect of HSCT on gonadal insufficiency and fertility potential among children with FA is largely unknown.Methods:</stron...

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...