ESPE Abstracts

Glucocorticoids are widely used to treat autoimmune and inflammatory diseases. The side-effects of glucocorticoids are well known, but not routinely monitored in the pediatric population. Recommendations regarding the timing of blood glucose screening are lacking and understanding about the correlation between different glucocorticoid treatment regimens and glucose variability is insufficient. Our objective was to test the usability of continuous glucose monitooring (CGM) to d...

Liraglutide 3.0 mg has been shown to improve body mass index (BMI) and weight in obese adolescents. And it has done so in a randomized, double-blind, phase 3 clinical trial that has investigated the effect of liraglutide 3mg. compared with placebo for weight control in 251 obese minors, and as a complement to a healthy lifestyle. Adverse events associated with the use of liraglutide 3.0 in pediatric patients are not very different from those observed in adults. There may be ca...

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

Introduction: Thyroid hormones (THs) play a crucial role in growth, brain development and function and metabolic homeostasis. The sensitivity to TH indices seems to be associated with metabolic syndrome (MS), prediabetes and diabetes in adults. We evaluated the sensitivity to TH indices in a pediatric population with neuromotor disability in relationship with the MS presence, using a multivariate analysis (MVA).Patients and Metho...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.Case presentation: A 4-year-old girl had normal development until March 2022 whe...

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...

The coronavirus disease (COVID-19) pandemic brought with it a state of alarm as of March 14, 2020, which implied a restriction on the mobility of the general population and home confinement. One of the main concerns raised by isolation was the substantial reduction in energy expenditure due to children spending more time sitting or participating in activities that involve very low rates of energy expenditure, such as watching television, managing the different networks social ...

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...

Background: The annual incidence rate (IR) of childhood-onset type 1 diabetes mellitus (T1D) among Estonian children under the age of 15 between 1983 and 2006 was 12.6 per 100 000 per year, with the highest incidence rate in the age-group 10-14.9 years. During this time period the most rapid increase in incidence was seen in age-group 0-4.9 years, with a 9.3% increase annually.Objective: To calculate the incidence of T1D...