ESPE Abstracts

Introduction: Alstrom syndrome is an autosomal recessive genetic disorder with mutation in the ALMS 2p12-13 gene and its characteristic features are: pigmented retinopathy, deafness, growth deficiency, obesity, metabolic syndrome, diabetes, thyroid dysfunction, nephropathy and cardiomyopathy.Aim of the study: Evaluation of anthropometric parameters, thyroid function, carbohydrate metabolism and lipid profile in five patients with diagnosed Alstrom syndro...

Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.<p class=...

Background: A recent data indicates a complex mechanism of β-cell destruction in type 1 diabetes in which despite Th1/Th2 bias different other populations of immune cells like Th17 with specific IL17A secretion with proinflammatory action will mediate β cells autoreactivity. In humans, the relevance of Th17 cells in new onset T1DM is still controversial.Objective and hypotheses: The aim of our study was to evaluate circulating Th17 in children ...

Background: The length of patient survival after cancer treatment is increasing and in some cases does not differ from the average life span in healthy individuals.Objective and hypotheses: The aim of the study is evaluation of thyroid function after oncologic treatment in children.Method: A group of 158 patients aged 16–25 who underwent oncologic treatment in childhood and the control group −66 children and young adults...

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: Heterozygous familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder occuring in 1:500 people. Patients with FH have a high risk of premature cardiovascular diseases. Today effective lipid-lowering therapies are available and it is a chance to extend the life of patients.Aims and objectives: The aim was to analyse the clinical data of children with FH from the Clinic of Pediatrics, Diabetology and Endocrinology and prelim...

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...

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: The aim of this study was to analyze the impact of the COVID-19 pandemic lockdown on behaviors and subsequent changes in BMI in children from southern Poland.Methods: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and ...

Background: Turner syndrome (TS) predisposes to obesity and related metabolic disorders and presents a high risk of congenital heart defects. Growth hormone (GH) treatment used in TS girls also affects the parameters of carbohydrate-lipid metabolism. Thus, the search for new markers that could be early predictors of metabolic disorders seems to be justified.Objective and Method: The assessment and comparison of MMP-1, MMP-2, MMP-9 (matri...