ESPE Abstracts

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

Background: Constitutional delay of growth and puberty (CDGP) is one of the most frequent norm variants in children presenting with short stature. Knowing the height, growth, and weight pattern of CDGP in the first years of life is important to distinguish CDGP from growth hormone deficiency (GHD) or other diseases.Methods: We studied height and weight in the first 5 years of life in 54 boys with CDGP including measureme...

Background: For children with retarded bone ages such as in constitutional delay of growth and puberty (CDGP) there are no specific methods to predict adult height based on bone age. Widely used methods such as Bayley-Pinneau (BP) tend to overestimate adult height in CDGP. Therefore, we aimed to develop a specific adult height prediction model for boys in pubertal age with retarded bone age >1 year.Methods</...

Background: Routine screening for Coeliac disease (CD) beyond the first year of diagnosis with Type 1 Diabetes Mellitus (T1DM) is controversial due to a paucity of high-quality evidence. The UK guidelines (NICE) only recommend screening at diagnosis with T1DM or if subsequently symptomatic; whereas the International Society for Paediatric and Adolescent Diabetes (ISPAD) recommends routine screening every 1 to 2 years.Objective and hypotheses: We hypothes...

Background: More than 20 gene loci are known to cause monogenic neonatal diabetes today. A definite mutation can be found in 65–70% of all cases. Mutations in the ATP sensitive potassium channel can frequently be treated by sulfonylurea. Glibenclamide is on of the drugs known to inhibit the bile salt export pump (BSEP). However most drug induced cholestasis cases are reported in adults.Objective and hypotheses: Glibenclamide is used frequently to tr...

Background: Obesity is a major feature in several syndromes. In patients with early-onset severe obesity, 7% harbour a single locus mutation.Objective and hypotheses: We report a 3.11 year old male patient with early onset obesity (BMI 29.9 kg/m2 >>P97), ongoing excessive weight gain, autoaggressive behaviour, and delayed speech development. No growth retardation or further dysmorphic signs. Early postnatal feeding difficulties require...