ESPE Abstracts

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...

Background: Many endocrinopathies are associated with cardiovascular abnormalities. Central blood pressure (CAP), reflecting the condition of blood vessels, may be useful in monitoring of patients with endocrinopathies.Objective and hypotheses: To evaluate parameters of CAP in patients with selected endocrinopathies.Method: The study group comprised 122 patients (58 girls and 64 boys) with endocrinopathies: GH deficiency before GH ...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...