ESPE Abstracts

Background: Diagnosis of adrenal insufficiency in the neonatal period is most accurately diagnosed with a short Synacthen test. Some tertiary endocrinology centres advocate random serial cortisol measurements over a 3-h period; a normal cortisol reading during such a test would negate the need for a Synacthen test.Objective and hypotheses: Our aim is to assess whether serial cortisol level readings accurately identifies neonates with normal adrenal funct...

Background: Hyperinsulinaemic hypoglycaemia (HH) is one of the common causes of hypoglycaemia in infants and children. It can cause severe brain injury in children if not treated promptly. Diazoxide is first-line treatment for HH. Glucagon infusion is used in the management of children with HH. However it is unclear what dose of glucagon should be used in children.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of intraven...

Background: Hyperinsulinaemic hypoglycaemia (HH) is a common cause of hypoglycaemia in children. Glucagon is an important counter-regulatory hormone and the role of somatostatin is not known in children with HH.Objective and hypotheses: To understand the roles of glucagon and somatostatin in children with HH.Method: Children admitted for management of HH in our hospital were included in the study. Plasma insulin, glucagon and somat...

Objective: Children are usually mildly affected by Severe Acute Respiratory Syndrome Coronavirus 2 infection (SARS-CoV-2, COVID-19). However, the pandemic has impacted negatively on children with non-COVID-19 diseases. We aimed to determine the impact of the COVID-19 pandemic on the presentation of newly diagnosed childhood-onset type 1 diabetes.Methods: This was a cross-sectional study conducted over a one-year period. ...

Background: Oral glucose tolerance test (OGTT) is the screening test of choice for Cystic Fibrosis Related Diabetes (CFRD). HbA1C is considered unreliable in diagnosing CFRD because of increased cell turn over in children and adolescents with Cystic Fibrosis (CF).Objective: To determine the validity of HbA1C as a predictive tool for future abnormal OGTT in CF.Material & Methods: Data were colle...

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...