ESPE Abstracts

Background: Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant genetic disorder characterized by retinal and central nervous system hemangioblastomas, pheochromocytomas and multiple cysts in the pancreas and kidneys, with increased risk of malignant degeneration.Case presentation: A 9-year-old boy with uncomplicated premorbid and family history presented with ice-cold hands and profuse night sweating on the he...

It is well known that early diagnosis of growth disorders in children and their timely treatment are important for better outcomes.Objective: To evaluate the results from the implementation of the Partners4Growth Twinning Programme at Bulgarian tertiary pediatric endocrinology clinics. Materials and Methods: Since 2019 Partners4Growth started operation at 6 centers – 3 experienced in growth disorders reference centers and 3 twin cen...

Background: Continuous glucose monitoring (CGM) correlates with optimal control in both children and adults with type 1 diabetes (T1D) regardless of type of treatment. CGM plays a major role in decreasing the time spent in hypoglycemia and hyperglycemia, and achieving better quality of life.Aim: To evaluate the usage and benefits of out-patient CGM and assess parents’ attitudes to it at a non-reimbursed setting.Methods: A tota...

Pseudohypoaldosteronism is one of the least explored questions in clinical endocrinology. That leads to complexity in diagnosis and differential diagnostics of disease. A boy, aged 13 days was admitted to the hospital with complains: vomiting, low weight gain, constipation. Biochemical blood assay (BBA) and acid-base balance of blood: level of sodium – 127 mmol/l (N 132–145 mmol/l), potassium – 6.6 mmol/l (N 3.1–5.1 mmol/l), chlorine &#15...

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...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

Background: Since its discovery in 2012 the ‘browining’ adipokine irisin is known to lead to increased thermogenesis and energy expenditure. Studies in children are scarce, with results similar to most studies in adults.Objective and hypotheses: To establish a link between total and abdominal fat mass, physical activity and irisin in preschool age.Method: Height, weight and waist circumference (WC) of 40 healthy pre-puber...

Objective: To evaluate the efficacy of the drug ‘Rastan’, (manufacturer JSC ‘Pharmstandard-Ufa Vita’), in children with GH deficiency at the beginning of treatment at different ages.Materials and methods: We examined two groups of patients with GH deficiency who receive the drug for 3 years. In group 1, nine boys and two girls with age at debut of therapy 5.88±1.35 (from 3.3 to 7.1 years); in the 2nd group of ten boys and two gir...

Objective and hypotheses: To establish clinical, laboratory peculiarities of manifestation, short-term effects of performance of hormonotherapy children with CACH.Method: We examined 32 children with CACH (29 children – with salt-losing form (SLF) (boys/girls=18/11), 3 – virile form (VF) (boy/girls=1/2)) in onset and after 1 year of therapy. Weight and growth dynamics, parameters of potassium (K), sodium (Na), glucose, adrenocorticotropic hormo...