ESPE Abstracts

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, clinically and genetically heterogeneous, pleiotropic disease characterized by the immotile primary cilia, leading to an MC4R pathway impairment. In addition to syndromic features, patients present with hyperphagia, early-onset obesity, metabolic syndrome (MetS) and increased risk of type 2 diabetes. Here, we aimto describe metabolic features and MetS z-score in a group of rare BBS cases.<...

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

Background: Celiac disease (CD) is an important association with type 1 diabetes (T1DM) with a significant impact on growth and glycaemic control. The frequency of coexistence of T1DM and CD is widely described, ranging from 2.5 to 16.4% in 23 studies worldwide, much greater than the general population risk of 1%. The risk of CD is higher among younger children (less than 4 years), females and during the first few years of T1DM diagnosis. Objectives: We aimed ...

Introduction: Primary adrenal insufficiency in paediatrics is uncommon but lethal condition, it results most commonly from congenital adrenal hyperplasia1. Short Synacthen Test (SST) is widely used to assess the glucocorticoid synthesis in the adrenal glands. Synacthen doses are age-based; 62.5mcg for babies younger than 6months, 125mcg for infants between 6-24months and 250mcg for children older than 2years. There is a controversy amongst endocrino...

Introduction: Health literacy has been linked to poorer diabetes control and outcomes. Caregivers with poor health literacy may fail to comprehend various elements of diabetes education leading to poor glycaemic control of their children. No studies to date had investigated the link between caregivers’ health literacy and their children’s glycaemic control in an Arabic-speaking population.Objectives and hypothesis: Our aim is to study the link ...

Background: Ramadan is the holy month of fasting for Muslims. New evolving technology in the treatment of type 1 diabetes (T1DM) had encouraged Muslim diabetics to pursuit the practice of fasting. There are limited data on fasting of children and adolescence with T1DM during the holy month.Objective and hypotheses: Our aim is to investigate the ability, effect and safety of children and adolescence with T1DM to fast the Holy Month of Ramadan 2014.<p ...

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

Background: Monogenic obesity (MO) is a rare form of obesity caused by mutations in a single gene, and characterized by being severe and with early onset. The leptin-melanocortin pathway is the main pathway controlling satiety and food intake. Genetic variants in this pathway have been implicated in MO with many being identified in consanguineous populations. Another group of neuronal proteins important in the development of neuronal circuits linked to energy ...