hrp0084p3-659 | Bone | ESPE2015

Vitamin D Status in Romanian Children 0–18 Years – Should we be More Careful Regarding Supplementation?

Chirita-Emandi Adela , Puiu Maria

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...

hrp0094p2-330 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report.

Pankratova Maria , Kareva Maria ,

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 ...

hrp0089s9.2 | Novel advances in endocrine imaging | ESPE2018

Novel CNS Imaging Techniques

Argyropoulou Maria

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...

hrp0089na1.1 | The clinical relevance of metabolomics; genomic engineering - CRISP-R/Cas9 and its many implications | ESPE2018

The Clinical Relevance of Metabolomics

Klapa Maria

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...

hrp0089p2-p216 | GH & IGFs P2 | ESPE2018

Incidence and Prevalence of GH Deficiency in the Russian Federation – An Analysis of Two Registries

Vorontsova Maria

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 ...

hrp0092p2-201 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Papillary Thyroid Cancer in a 17-Years Old Girl with a Late-Diagnosed Turner Syndrome

Pankratova Maria , Brovin Dmitriy , Kareva Maria

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...

hrp0089rfc5.3 | Thyroid | ESPE2018

Incidence and Treatment Outcome of Childhood Thyrotoxicosis

Rodanaki Maria , Lodefalk Maria , AEman Jan

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...

hrp0089p2-p311 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Incidence of Delayed Puberty in Adolescents. A Population-Based Study in a County in Central Sweden

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.<p class...

hrp0094p1-86 | Pituitary A | ESPE2021

Adding a protease inhibitor to sampling tubes increases the acylated ghrelin and decreases the desacylated ghrelin levels in girls.

Rodanaki Maria , Rask Eva , Lodefalk Maria ,

Introduction: Ghrelin is a growth hormone-releasing acylated peptide stimulating the appetite, mainly produced in the stomach, and with an important role in pubertal development (1). Two ghrelin forms have been described, acylated (AG) and desacylated (DAG), but it is debated whether DAG is an active hormone or a degradation product of AG (2). Our aim was to evaluate the effects of adding the protease inhibitor 4-(2-aminoethyl) benzenesufonyl fluoride hydrochl...

hrp0092p2-124 | Fat, Metabolism and Obesity | ESPE2019

Markers of Bone Metabolism in Obese Children and Adolescents

Kovalenko Tatiana , Larionova Maria

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...