ESPE Abstracts

Background: Recent guidelines recommend levothyroxine (LT4) monotherapy for all infants with congenital hypothyroidism (CH). However, up to one-third of patients have pituitary resistance to thyroid hormone and, to normalize their TSH, require supranormal circulating levels of T4. Liothyronine (T3) has been proposed as a supplemental therapy for such patients, but data demonstrating its use and efficacy are limited.Object...

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

Background: Women with Turner syndrome (TS) are known to be at risk of osteoporosis and fracture. While childhood GH treatment is common in TS, the impact of this therapy on bone health has been poorly understood.Objective: The purpose of this study was to determine the effect of childhood GH-treatment on adult bone quality in TS women using dual X-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT).<p c...

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...

Background: Adult survivors of childhood leukaemia treated Bone marrow transplantation with total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend the...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in the neonatal period, characterized by unregulated insulin secretion by pancreatic β-cells. In addition to medical therapy, frequent feeding to prevent hypoglycaemia is one of the most important aspects in the management of CHI.Objective and hypotheses: To identify the number of patients with CHI who have associated feeding difficulties and determine ...

Background: Cystic fibrosis related diabetes (CFRD) affects 40-50% of adults with Cystic Fibrosis (CF) and significantly decreases pulmonary function and affects life expectancy. Previous data highlighted that CFRD may be preventable or curable with the use of CFTR modulators, namely Ivakaftor. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. To our knowledge, its effect on glucose regulation in children and young peopl...

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

Background: A positive relationship between an individual surgeon’s operative volume and clinical outcomes after paediatric and adult thyroidectomy is well-established. The impact of a hospital’s paediatric operative volume on surgical outcomes and healthcare utilisation, however, are infrequently reported. We investigated associations between hospital volume and healthcare utilisation outcomes following paediatric thyroidectomy in Canada’s larg...

Background: The gene expression microarray and morphoproteomics in diffuse congenital hyperinsulinism (CHI) revealed activation of the mammalian target of rapamycin (mTOR) pathway and the subsequent treatment of four diffuse CHI patients with sirolimus (mTOR inhibitor) avoided pancreatectomy.Objective and hypotheses: To further evaluate the mechanism of action of sirolimus by studying the expression of mTORC1/RagGTPase and IGF1R/mTORC2/Akt pathways in pa...