ESPE Abstracts

Background: Childhood obesity is one of the most prevalent and challenging health care concerns. In this context, insulin resistance (IR) is an important disorder with strong association with metabolic (type 2 diabetes, hypercholesterolemia) and cardiovascular (hypertension, atherosclerosis) outcomes. Clinical trials have been showing Metformin as an effective drug on reducing the IR and BMI. However, there is little data on use of metformin in children....

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7÷12,3), all have microdeletion of paternally inherited 15q11....

A 15y10m boy was presented to our hospital (in March 2017) with the complaints of acute, severe, continuous, burning pain affecting soles and both legs, insomnia, loss of body weight and appetite. He described his pain as stabbing and burning. He also perceived contact with bed clothing, socks, shoes or floor as causing extreme discomfort. He could barely move out of bed. He had no symptoms in hands or any other neurological complaints. An. Morbi: type 1 diabetes was diagnosed...

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

Background: Diabetes, acute cardiovascular events and lifelong psychological problems reflect the obesity burden. Nutrition is a key point in prophylaxis and management of overweight and there is important to know trends of nutrition to build interventional strategies.Method: There are 1021 healthy lean (LH) and 372 obese (OW) adolescents aged 10–17 y.o. were survived with original questionnaire, which also included social and psychological (Beck-Yo...

Background: Growth problems, such as stunting, are commonly found in daily pediatric practice. Stunting is a significant problem in developing countries, and is part of the Sustainable Development Goals (SDG) Goal 2 of ending hunger. In Indonesia, the rate of stunting in children under 5 years old is still considered high, despite improvement in quality of life due to rapid economic development. The rate of this improvement is unequal throughout the nation, wh...

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...