ESPE Abstracts

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: Alterations of pre- and early postnatal growth can have long lasting impact on adult height, body composition and metabolic health throughout life. In monozygotic twins discordant for prenatal growth due to twin-to-twin transfusion syndrome (TTTS), we previously demonstrated lower cord blood IGF-I concentrations and earlier pubertal maturation, indicative of prenatal programming of endocrine systems, to be linked to reduced final height of the form...

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

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...

Background: There is limited data supporting concerns that systemic corticosteroids, prescribed in pregnancy for maternal health reasons, can suppress the neonatal Hypothalamic-Pituitary-Adrenal (HPA) axis. Our study aimed to determine if neonates born to mothers on long-term or high dose steroids are at risk of adrenal suppression.Methodology: Neonates who underwent assessment of adrenal function over a seven-year perio...

Objectives: PATRO Children is a non-interventional, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). In particular, the study will assess the diabetogenic potential of rhGH and the risk of malignancies. The long-term efficacy is a secondary objective of the study.Methods: The study population includes infants, children and adolescents receiving Omnitrope®...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) amongst adult and paediatric endocrinologists. AI can present insidiously and symptoms may be non-specific. The number of medical indications for glucocorticoids is growing and SST usage is correspondingly increasing. There is evidence that an early morning plasma cortisol (EMC) of below ~100–150 nmol/l is highly predictive of failing the SST and the cor...