ESPE Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...