ESPE Abstracts

Background: Those affected by adrenal insufficiency (AI) (including congenital adrenal hyperplasia (CAH)) are at risk of serious illness and growth problems, and as a result they require life-long daily hormone replacement therapy. Little is known about the psychosocial impact that living with and treating AI on a daily basis can have on both children and their parents.Objective and hypotheses: The aim of the study was to explore the psychosocial impact ...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

Objectives: Hearing loss and ENT problems are frequently seen in children with Achondroplasia. Current international consensus guidance recommends audiological assessment before the age of one year and thereafter in childhood in presence of speech delay, hearing difficulties or features of middle ear effusion. In January 2019, we began a programme of annual hearing screening for children with Achondroplasia residing in Glasgow who attend the Complex Bone Clini...

Background: Paediatric thyrotoxicosis is both rarer and more severe than in adulthood, rendering management difficult, and often unsatisfactory.Objective: To review outcome in a geographically defined area between 1989 and 2013; hence to develop an algorithm for improved clinical care.Method: Retrospective case note review plus questionnaire to family doctor requesting update. Graves’ disease (GD) was defined as positive TSH-R...

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). However, the FDA has raised serious concerns regarding diazoxide-induced pulmonary hypertension (PH) in 2015. Although sporadic cases of PH have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH,...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Background: Virtual environments have proved to be successful for educational purposes in different fields. Multimedia applications might be used to consolidate and internalize informations and behavioral strategies in type 1 diabetic children.Aim: In the last years our Diabetology Division and the Department of Informatics co-created many multimedia applications (edutainments, virtual environments, role serious games, electronic diary smartphone apps, a...