ESPE Abstracts

Background: Face processing is considered the most highly developed visual perception ability, with research indicating differences between genders. Gender incongruence (GI) refers to person’s experience of an incompatibility between gender identity and birth-assigned sex. Differences of sex development (DSD) encompass rare congenital conditions, in which chromosomal, gonadal or phenotypic development is atypical. The study aimed to investigate face proc...

Background: Idiopathic short status (ISS) is defined as a height more than two standard deviations (SD) below the mean for age and sex and population group without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities. Children with ISS have normal birth weight and GH secretion.Aims: Aim of the study was to analyze the final adult height in a group of patients with idiopathic short stature.<p cla...

Background: In premature neonates hypothyroidism or thyroid sick syndrome is frequently diagnosed, which is a result of the immaturity of the gland itself and the hypothalamic–pituitary–thyroid axis. The necessity of rapid adaptation to extrauterine life, generation of high thermal energy, and accelerated development of the central nervous system is the cause of the increased demand for thyroid hormone.Objective and hypotheses: The aim of our s...

Introduction: Characteristic features in patients with a duplication at 5q35.2q35.3 encompassing NSD1 are short stature, microcephaly, mild developmental delay, behavioural problems, digital anomalies and defects of internal organs. The above-mentioned features are reversed to Sotos syndrome phenotype, which is associated with a microdeletion in the same chromosomal region. In the literature, 41 patients were reported so far.Case...

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

Background: Physical therapy plays a critical role in the multidisciplinary care of patients with rare bone disorders, such as osteogenesis imperfecta (OI). In Austria, similar to other European regions, the majority of OI patients depend on the availability of extramural (outpatient) therapists for their physical therapy needs. However, access to these therapists can be hindered by several factors, including long waiting times and the lack of coverage under p...

Background: An individual’s chronotype, or preference in the timing of sleep or food intake, may have metabolic implications. Late chronotype has been associated with higher body mass index (BMI) and hemoglobin A1c (HbA1c) in adults and greater BMI, portion sizes, and lower HDL cholesterol levels in adolescents.Objective and hypothesis: To examine associations between chronotype and risk factors for type 2 diabetes in children ages 10–13 years....

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

Background: Recent data have been showed that free radicals are involved in either bone resorption and atherosclerosis development in adults. In paediatric population the important risk factor for the early atherosclerosis development is obesity, which can be also associated with the disturb bone turnover.Objective and hypotheses: The aim of the study was to evaluate the interrelationship between oxidative stress and bone turnover markers in obese childr...