ESPE Abstracts

Background: Wolfram syndrome is a rare progressive genetic neurodegenerative disorder connected with diabetes mellitus, diabetes insipidus, optic atrophy, deafness, neurologic, and endocrine abnormalities. Wolfram syndrome is inherited in autosomal recessive manner – due to mutation of the WFS1 gene which is located on chromosome 4.Objective and hypotheses: A 9-year-old boy, diagnosed with diabetes mellitus at the age of 5.5 years, was admitted to h...

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...

Context: Turner syndrome (TS) predisposes to obesity and related disorders being a part of the metabolic syndrome. As TS population is at a higher risk of cardiovascular diseases research for laboratory markers of metabolic complications is ongoing. Based on our previous observation special significance is attributed to MMPs (matrix metalloproteinases), their inhibitors TIMPs and neurotrophic factors, such as BDNF (Brain-Derived Neurotrophic Factor) and GDNF (...

Zinc (Zn) is a crucial trace mineral that regulates the expression and activation of biological molecules such as transcription factors, enzymes, adapters, channels, and growth factors, along with their receptors. Bioinformatics analysis of the human genome discloses that Zn may bind ~ 10% of all of the proteins found in the human organism. This remarkable finding highlights the physiological significance of Zn in molecules involved in cellular processes and thereby i...

Introduction: Patients with GATA6 gene mutations have broad spectrum of clinical presentation, but most of them have pancreatic agenesis or hypotrophy, exocrine pancreatic insufficiency, insulin-treated neonatal diabetes and cardiac malformations. Some of them have significant neurocognitive deficits, hypopituitarism, hypothyroidism, gut abnormalities, biliary atresia, gallbladder agenesis.Case Report: The 5.5 year old f...

Context: Quality of survival (QoS) is frequently impaired in childhood-onset craniopharyngioma (CP) patients due to sequelae caused by the hypothalamic syndrome. The debate, whether primary hypothalamic involvement (HI) has apriori prognostic impact or surgical hypothalamic lesions (HL) determine outcome, is controversial. Accordingly, we analyzed, whether CP patients at high risk for hypothalamic obesity due to primary HI of anterior and posterior hypothalamic structures bene...

Introduction: Immunodysregulation polyendocrinopathy enteropathy x-linked syndrome (IPEX) is characterized by systemic autoimmunity, typically beginning in the first year of life. Most commonly triad of symptoms of diarrhea, dermatitis and endocrinopathy is present.Case report: Presentatlion of male patient, born with body weight 3840 grams and 10 points in Apgar scale. In 13th day of life vomitting and tachypnoe were noted and in laboratory tests hyperg...

Background: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder. The pathogenesis of this disease has not been clarified so far. It is hypothesized that visceral hypersensitivity observed in IBS is associated with the activation of immune system and development of low-grade inflammation in the intestinal mucosa. Previous studies have shown that hormonal function of adipose tissue in inflammatory bowel disease is disturbed. However, there is only a few repo...

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=...