hrp0092p1-36 | Diabetes and Insulin | ESPE2019

Expression of Receptor for Advanced Glycation End-products and its Ligands HMGB1 and s100A12 in Children and Adolescents with New-onset Type 1 Diabetes and in Patients with Longer Disease Duration

Uroic Anita Spehar , Krnic Nevena , Svigir Alen , Putarek Natasa Rojnic

Background: Receptor for advanced glycation end-products (RAGE) is a multiligand receptor up-regulated at sites of inflammation, especially in tissues with accelerated advanced glycation end-products formation. It is additionally stimulated by RAGE ligands S100A12 and HMGB1 released from recruited immune cells thus perpetuating the inflammatory process with a potential role in the development of type 1 diabetes as well as in development in diabetes complicatio...

hrp0095p1-262 | Fat, Metabolism and Obesity | ESPE2022

Altered inflammatory parameters and chemokine network in obese children

Spehar Uroic Anita , Filipovic Masa , Sucur Alan , Krnic Nevena , Grcevic Danka

Background: Childhood obesity has increased in epidemic proportions worldwide. Growing evidence confirms persistent low-grade systemic inflammation in obese individuals. It eventually leads to insulin resistance and endothelial damage, thus setting the ground for the development of metabolic and vascular complications.Aim: To investigate metabolic and inflammatory parameters and their relationship in obese children, by a...

hrp0095p2-61 | Diabetes and Insulin | ESPE2022

Ketoacidosis and Age Distribution in New-Onset Type 1 Diabetes During Covid-19 Pandemic

Vinkovic Maja , Krnic Nevena , Bogdanic Ana , Dumic Kubat Katja , Braovac Duje , Spehar Uroic Anita

Background:There are numerous reports indicating increased risk of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes (T1D) in childhood during COVID-19 pandemic. Delayed diagnosis, reduced access to immediate health care and psychological effects of pandemic have been suggested as possible reasons.Methods: We conducted cross sectional, single-center study at Department of Pediatrics, University Hospital Center Zag...

hrp0095p2-188 | Growth and Syndromes | ESPE2022

Kearns-Sayre syndrome – a rare cause of growth hormone deficiency

Braovac Duje , Vinkovic Maja , Krnic Nevena , Lehman Ivan , Jovanovic Ivan , Matkovic Hana , Dumic Kubat Katja

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...

hrp0092p2-10 | Adrenals and HPA Axis | ESPE2019

Functional Adrenocortical Oncocytoma – a Rare Cause of Progressive Virilization and Secondary Amenorrhea

Dumic Kubat Katja , Kusec Vesna , Uroic Anita Spehar , Vinkovic Maja , Krnic Nevena

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...

hrp0092p2-179 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Unusual Case of Patient with Klinefelter Syndrome with Shox Deletion Born to the Mother with Leri-weill Dyschondrosteosis

Krnic Nevena , Huljev Frkovic Sanda , Dumic Kubat Katja , Braovac Duje , Uroic Anita Spehar

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...

hrp0089p2-p102 | Diabetes & Insulin P2 | ESPE2018

A Novel Missense Variant, p.(Thr405Arg), in the SLC19A2 Gene in an Infant with Thiamine Responsive Megaloblastic Anemia Syndrome Presenting with Anemia and Diabetes but with Normal Hearing

Spehar Uroic Anita , Milenkovic Dragan , De Franco Ellisa , Rojnic Putarek Natasa , Krnic Nevena

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

hrp0089p2-p168 | Fat, Metabolism and Obesity P2 | ESPE2018

Weight Loss Outcomes in Two-Year Multidisciplinary Lifestyle Intervention Program Involving Obese Children and their Parents

Krnic Nevena , Uoic Anita Spehar , Bogdanic Ana , Kubat Katja Dumic , Pavic Eva , Putarek Natasa Rojnic

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

hrp0097p1-249 | Fat, Metabolism and Obesity | ESPE2023

Association of chemokine network profile with albuminuria in obese children

Spehar Uroic Anita , Filipovic Masa , Krnic Nevena , Sucur Alan , Grcevic Danka

Childhood obesity has increased in epidemic proportions worldwide. Complications of obesity represent a growing proportion of childhood morbidity. Albuminuria resulting from endothelial damage was recognized as a complication of obesity, implying higher cardiovascular risk.Aim: to investigate the association of albuminuria in obese children with metabolic and inflammatory parameters.Materials and Methods:</...

hrp0084p2-174 | Adrenals | ESPE2015

Clinical, Biochemical and Molecular Characteristics of the Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia

Dumic Miroslav , Krnic Nevena , Kusec Vesna , Grubic Zorana , Stingl Katarina , Yuen Tony , Kubat Katja Dumic , Skrabic Veselin , New Maria I

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...