hrp0095p1-426 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Epidemiology of Childhood Fractures in Bulgaria: A Retrospective Survey

Boyadzhiev Veselin , Iotova Violeta , Varbanova Boryana

Objectives: The results from several European studies done during the last 25 years show that fractures are common in childhood with the highest incidence in pubertal years. Fractures are more prevalent among males, and the distal arm is the most common location. The role of the body weight as a risk factor for fractures in childhood is still unclear and under debate.Methods: А survey about fracture history and the p...

hrp0095p1-417 | Adrenals and HPA Axis | ESPE2022

A patient with autoimmune polyglandular syndrome type 1 with atypical presentation

Bazdarska Yuliya , Yordanova Nikolinka , Hristozova Hristina , Krumova Darina , Iotova Violeta

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

hrp0095p2-182 | Growth and Syndromes | ESPE2022

Persistent leukocytosis in a Noonan syndrome-neurofibromatosis type 1 patient treated with recombinant human growth hormone

Deyanova Yana , Iotova Violeta , Hristozova Hristina , Kaleva Valeria

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

hrp0092p2-173 | GH and IGFs | ESPE2019

Implementation of a Growth Disorders Related Twinning Program in Pediatric Endocrinology – is it Necessary and Feasible?

Halvadzhiyan Irina , Iotova Violeta , Galcheva Sonya , Petrova Chaika

Background: Currently, only two centers for diagnosis and treatment of growth disorders are operating in the Western and Eastern parts of Bulgaria. About 200 children are currently GH treated while at least as many children with growth disorders from mostly Central Northern and Southern Bulgaria are presumably not diagnosed. Thus inequalities in children's access to health care are created. In order to correct this and to quickly align practices between ex...

hrp0089p3-p261 | Growth & Syndromes P3 | ESPE2018

Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding

Mladenov Vilhelm , Iotova Violeta , Angelova Lydmila , Stoyanova Milena , Bogdanova Viktoria

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

hrp0086p1-p695 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

CANDLE Syndrome: A New Autoinflammatory Lipodystrophic Disorder with Challenging Diagnosis and Limited Therapeutic Options

Boyadzhiev Martin , Boyadzhiev Veselin , Marinov Luchezar , Iotova Violeta

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...

hrp0082p2-d3-317 | Bone (2) | ESPE2014

Infantile Hypercalcemia: Still a Diagnostic and Therapeutic Enigma

Boyadzhiev Veselin , Bliznakova Dimitrichka , Iotova Violeta , Schlingmann Karl

Background: Hypercalcemia requires new investigation pathways after publishing the mutations of the CYP24A1 gene. Furthermore, diagnostic puzzles connected to it still remain.Objective and hypotheses: We present a 1.5-years-old girl with infantile hypercalciuria who has been followed-up since she was 4 months old. The child is born from uneventful pregnancy, normal delivery, on term with weight 3600 g and length 52 cm. Two months after birth she became i...

hrp0082p2-d3-407 | Fat Metabolism & Obesity (2) | ESPE2014

Examining β-Cell Reserve in Extremely Obese Children

Neshkinska Maria , Galcheva Sonya , Lateva Mina , Iotova Violeta

Background: Obesity is a major risk factor for developing type 2 diabetes mellitus (T2DM). Despite the obesity epidemics, the incidence of childhood T2DM is not increased.Objective and hypotheses: To assess the β-cell reserve expressed as an oral glucose disposition index (GDIo), an independent predictor of developing T2DM.Method: A total of 80 adolescents (61.3% girls), aged from 10.0 to 17.6 years (mean age 13.59±2.34 y...

hrp0082p3-d2-773 | Fat Metabolism & Obesity (1) | ESPE2014

Trends in Obesity Prevalence and BMI among Pre-Pubertal Bulgarian Children, 1990–2007

Iotova Violeta , Galcheva Sonya , Yotov Yoto , Grozdeva Kera , Stratev Velin

Background: Obesity prevalence is increasing among young children in both developed and developing countries, showing a tendency to persist with age and lead to early morbidity and mortality.Objective and hypotheses: The aim of this study is to present the most recent trend in obesity prevalence and to investigate the changes in BMI among Bulgarian pre-pubertal children for a period of 17 years (from 1990 to 2007).Method: Three cro...

hrp0084p3-871 | Fat | ESPE2015

Body Composition and Metabolic Risk Factors in Preschool Children

Lateva Mina , Popova Ralitsa , Galcheva Sonya , Georgieva Miglena , Iotova Violeta

Background: Recently childhood obesity shows trends of lowering age at start. Preschool children are still very physically active. A possible association between total and abdominal obesity and metabolic risk at preschool age could be of value for preventive measures.Objective and hypotheses: To investigate the relationship between body composition and some metabolic risk factors at preschool age.Method: A total of 40 (50% boys) he...