ESPE Abstracts

Background: Autoimmune encephalopathy is usually reported in patient with Hashimoto’s thyroiditis and in Graves’ disease is rather rare, especially in children.Method: We report a boy of 15 years diagnosed with Graves’ disease and treated ineffectively with thyrostatics. After 2 years of the therapy he had recurrence of hyperthyroidism and underwent radical treatment with ablative dose of 131I. After 2 weeks the patient suffered...

Background: Recent studies have shown a new link between skeleton, fat tissue, and insulin action. However, clinical data are still limited, especially in children.Objective: The aim of the presented study was to investigate the relationship between bone and fat hormones and glucose metabolism in children with type 1 diabetes mellitus (T1DM) and obesity.Methods: Forty-six T1DM children, mean age 12.2±4.6 years, mean BMI 20.0&#...

Aims: The aims of the study was to evaluate the plasma adiponectin levels in obese children depending on children age, gender, stage of puberty and its relationship with lipid and carbohydrate metabolism parameters.Material and method: The study were involved 122 obese children (52 girls, 70 boys), aged 5.3–17.9 years (11.6±3 years), 52 children in prepubertal, and 65 in pubertal period. Obesity was defined using IOTF criteria. The control grou...

Background: Recent years bring a lot of data of the important role of vitamin D in different physiological processes, including a prevention from pathological states.Objective and hypotheses: The aim of the study was to analyze associations between serum level of vitamin D and some markers of glucose and lipid metabolism but also as well bone-related molecules as adipokines and in children and adolescents.Method: 57 patients, 40 wi...

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

Introduction: In recent years, one of the most frequently studied focuses is the pathophysiology of adipose and muscle tissue; however, in the literature there is no report about regulatory proteins (myokines/adipomyokines), which expression affects the body’s metabolism and communication between tissues especially in children population. Irisin (Ir) is one of the adipomyokines, which induces the conversion of white adipocytes into beige adipose tissue, a...

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...