Endocrine Abstracts

Background: Up to 50% of children treated with inhaled corticosteroids (ICS) have biochemical evidence of adrenal insufficiency (AI). Episodes of adrenal crisis (AC) are extremely rare.To address the discordance between the prevalence of biochemical AI and AC, we re-examined the biochemical definition of AI during ICS therapy. We then investigated the utility of early morning salivary cortisol (EMSC) and cortisone (EMSCn) for the identification of patien...

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

Background: Congenital hypopituitarism (CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a syndrome. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown.Patient and Methods: A female baby bor...

Background: Delivery of clinical trials to time and target is critical for studies to be financially viable and relevant. Feasibility studies are informative. However, protocol acceptability and recruitment rates can only be accurately ascertained once a study is open.The SCIPI study (SubCutaneous Insulin: Pumps or Injections?), randomises patients to treatment with multiple daily injections (MDI) or pumps at diagnosis of type I diabetes (TID). A consent...

Background: The activity of the hypothalamic–pituitary–adrenal axis (HPA) during inhaled corticosteroid (ICS) treatment of asthma has been studied extensively. To date patient populations have been too small or homogeneous to identify relationships between steroid exposure, patient characteristics and HPA activity. In this abstract we report data from a large, heterogeneous cohort of patients recruited to observational and pharmacogenomic studies.<p class="abstex...