ESPE Abstracts

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

Effective management of Type 1 diabetes can be challenging. We would like to discuss the management of a 7 year old boy with Type 1 Diabetes, Lissencephaly and global severe developmental delay with medically refractory epilepsy who was introduced to and managed on a Ketogenic diet to try and improve his seizure control. He is non mobile and non-verbal and purely gastrostomy fed. He has diagnoses including. Lissencephaly and band heterotopia, absent corpus callosum, microcepha...

Background: Premature adrenarche is associated with overweight and insulin resistance, but the associations of serum dehydroepiandrosterone sulphate (DHEAS) concentration with other cardiometabolic risk factors are uncertain.Objective and hypotheses: We studied whether cardiometabolic risk factors and their clustering differ between children with higher and lower serum DHEAS concentration.Method: We studied 432 healthy children (20...

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 and Aims: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme involved in the metabolism of fatty acids. As a result of the enzyme deficiency, individuals with CMAMMA experience an accumulation of malonic and methylmalonic acids in their blood and urine...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...

Background: It is well known that GH deficiency (GHD) in adulthood is associated with detrimental cardiovascular (CV) effects. Although data are controversial, adolescents with childhood-onset GHD (COGHD) and reconfirmed GHD may have increased metabolic risk after GH treatment withdrawal at final height (FH).Aim: Aim of our study is to compare growth response and metabolic profile in idiopathic COGHD adolescents with rec...

Background: Nutrition plays a pivotal role in long-term survival in cystic fibrosis (CF). Early insulin treatment for glucose intolerance promotes anabolism and stabilises lung function. However there is a variation in cystic fibrosis related diabetes (CFRD) screening across centres (recommended age for start of CFRD screening varies between 10 and 12 years as per CF trust, CFF & ISPAD guidelines).Aims: To assess if early screening of glycaemic statu...

Background: Transgender adolescents may be treated with gender affirming hormone therapy (GAHT) consisting of gonadotropin-releasing hormone agonists (GnRHa) and cross-sex hormones. Limited data are available regarding the metabolic effects of GAHT in adolescence.Objective: To evaluate the lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment.Patients...