ESPE Abstracts

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

Background: The abnormalities of the Internal Carotid Artery (ICA) are very rare phenomenona and the agenesis, in particular, has an estimated incidence of 0,01% among the general population. It could also be associated with another rare condition: the congenital hypopituitarism.Objective and hypotheses: To describe a very rare case characterized by the association between congenital hypopituitarism and abnormalities of the internal carotid artery.<p...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

Background: Paediatric Osteoporosis can be a devastating complication of Duchenne muscular dystrophy (DMD). Treatment with intravenous bisphosphonates such as pamidronate is currently the first treatment choice for paediatric osteoporosis of different etiologies.Objective and hypotheses: The aims of our study were i) to identify the proportion of boys with DMD with osteoporosis in our service and ii) to evaluate the side-effect profile of those treated w...

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

Childhood cancer survivors (CCS), particularly brain cancer survivors, are at risk of developing growth hormone deficiency (GHD) due to hypothalamic-pituitary damage from direct tumor mass effects or treatment. Optimization of testing, long-term treatment, and monitoring during care transition from pediatric to adult endocrinology providers remain challenging. A group of endocrinology experts convened to discuss these challenges, the risks and benefits of GH therapy in CCS wit...

Background: Diagnosis of congenital adrenal hyperplasia (CAH) is delayed in developing countries and children are long exposed to high levels of androgens. These androgens have deleterious effect on heart.Objective and hypotheses: Evaluate cardiac function of children followed for CAH and compared it to a group of healthy children.Method: We carried out a case-control study, 1 case for 2 controls matched for age and genotypic sex, ...