ESPE Abstracts

Objectives: The SARS-CoV-2 pandemic has resulted in major cutbacks in service provision to patients. This could be detrimental to children with diabetes mellitus (DM), whose condition could deteriorate from poor access to healthcare. The lockdown has also potentially caused changes in diet, sedentary behavior and psychological burden due to the stress associated with the pandemic, which can have negative effects on glycemic control. Thus, this study compares c...

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth and spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells...

Background: Hyperuricaemia has been associated with increased risk of metabolic syndrome in adults and children. Elevation in serum uric acid (SUA) is hypothesized to be a critical initiator of the development of essential hypertension. The exact relationship between SUA and blood pressure (BP) has not been established in the pediatric population. We conducted a systematic review to evaluate the association between SUA and BP in well, obese/overweight and hype...

Background: Glucocorticoid (GC) therapy is standard of care of management of Duchenne Muscular Dystrophy (DMD) but its use is associated with a range of side-effects. Weight gain leading to significant obesity is common in GC treated boys. There are limited studies evaluating body composition in DMD following initiation of GC, and the timing of increase in fat mass is not known.Aim(s): To evaluate changes in growth param...

Introduction: Paediatric growth hormone deficiency (pGHD) is a rare disorder characterised by inadequate secretion of growth hormone (GH). Daily injections of somatropin, a recombinant human GH, is the standard of care. Once-weekly GH treatments have been recently developed, but no direct comparisons have been published. This study examined the clinical efficacy of the available once-weekly treatments vs. daily treatment for pGHD via a systematic literature re...

Background: Over the last thirty years, the incidence of adolescent obesity has quadrupled. While the physical risks of adolescent obesity have been well researched, there has been little research on its impact on mental health status and cognitive abilities. In the present study, we intend to examine whether nutritional intervention and weight loss affect executive functions and levels of depression of adolescent girls with overweight/obesity (OW/OB).<p c...

Background: Though the genes and signalling pathways involved in sexual development have only been partially elucidated, it is known that their disruption can result in disorders of sexual development (DSD). XX ovarian dysgenesis (XX-OD) is a rare, genetically heterogeneous disorder characterized by underdeveloped and dysfunctional ovaries. We previously identified a novel missense mutation in Nucleoporin107 (Nup107, c.1339G>A, p.D447N), an essential compo...

Background: BRAF is a component of the RAS/MAPK signalling pathway; germline mutations in components of this pathway are associated with congenital abnormalities such as Cardio-Facio-Cutaneous (CFC), Noonan and Costello Syndromes. These syndromes, known as RASopathies, are characterised by variably penetrant central nervous system, cardiac and facial abnormalities. Importantly, short stature and delayed puberty have been associated with these syndromes, as have featur...

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

Background: The integration of technology in health care has led to improved medical care and better compliance, especially in chronic diseases such as diabetes. Despite these advances, compliance has always been an issue in caring for adolescents with diabetes. Text messaging has become a popular way to communicate with peers especially for teens. Multiple studies support the theory that texting is an easy and affordable resource that health care providers can utilise to educ...