ESPE Abstracts

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition characterised by adrenal insufficiency and a life-long risk of adrenal crises. There is a paucity of information on the epidemiology of acute adverse events in this population.Objective: To investigate the frequency, aetiology and consequences of acute adverse events attributed to adrenal insufficiency in CAH.Methods</stro...

Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.Objective and hypotheses: To confirm not all seizures are epileptiform.Method: Case reports.Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy med...

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...

Background: Klinefelter syndrome (KS) is a male genetic disorder defined by the karyo type 47,XXY. Adult males with KS are at increased risk for osteoporosis, based on androgen deficiency. Androgen replacement is standard in adolescent and adults with KS, but has not been used earlier in childhood. We performed a clinical trial to study the effects of childhood, low-dose androgen replacement on bone density in boys with KS.Objective and hypotheses: To me...

Background: The assessment of bone age increments is important when monitoring treatment in many conditions in pediatric endocrinology. However, manual rating suffers from significant rater variability. Automated bone age assessment could provide increased precision, and also assess increments of bone health index (BHI) from the same X-rays.Objective and hypotheses: To assess the precision of automated assessment of increments of bone age and BHI.<p ...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

Background: The Short Synacthen Test (SST) is the most popular test of adrenal insufficiency (AI) worldwide. The current SST protocol at Sheffield Children’s Hospital (SCH), UK, recommends measurement of serum cortisol at baseline, then 30- and 60-minutes post stimulation, with a peak cortisol of >429nmol/l constituting a pass. Our practice has evolved to consider near-pass results as “borderline” and patients may be treated with stress do...