ESPE Abstracts

Background: The genetic causes of primary hyperaldosteronism are still being discovered.Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle h...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

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 ...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...