ESPE Abstracts

Background: The short synacthen test (SST) is a popular diagnostic investigation for adrenal insufficiency (AI). Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. Salivary cortisol is a well-established alternative to serum sampling.Objective and Hypotheses: To develop a non-invasive alternative to the 1 μg SST, using a novel formulation of Synacthen (with a nasal drug enhancer, chitosan) given na...

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Background: Steroid therapy has been used as a therapeutic strategy in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS) with good effect. However, as always, exogenous steroid administration carries with it a risk of iatrogenic adrenal insufficiency.Aim: We characterise steroid therapy use in PIMS-TS and consider implications for hypothalamic-pituitary-adrenal...

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHADNET) is a rare disorder which presents in early childhood.Case presentation: Four years old girl was referred to endocrinology unit with a history of excessive weight gain. Parents noticed a rapid weight gain from 3 years of age with increase food seeking behaviour and daytime somnolence. Her weight was >95th centile and her height was o...

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

The association of thyroid carcinoma with Graves' disease is considered rare and remains exceptional because it accounts for only 1-2% of childhood cancers.We report an observation of a 10-year-old girl from a goitrous endemic area (CHLEF) with exophthalmia. It shows signs of obvious thyrotoxicosis with with a very firm, homogeneous and asymmetrical goiter on the right.. A hormonal assessment, an echography and a thyroid scintigraphy confirm the ...

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder in the world and also the commonest most preventable cause of mental retardation. Screening is mandatory in developed countries, but none exists in sub-Saharan country. We present a preliminary report of the first Nigerian screening for CH.Objective and hypotheses: To screen normal newborn babies in different regions in Nigeria and to determine the normal range of T...