ESPE Abstracts

Background: In female patients with cystic fibrosis (CF), female sex predisposes to the progression and worsening of lung function, which increases the incidence of acute exacerbations, and leads to the earlier bacterial colonization of Pseudomonas aeruginosa. The negative effect of estrogens on the clinical course of CF in girls begins to manifest with the onset of puberty and the appearance of secondary sexual characteristics. On the cellular-level estrogens affect: 1.) immu...

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: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...

Background: Thyroid dysfunction plays an important role in formation of dyslipidemia during obesity while thyroid pathology (TP) is one of the most common endocrinopathies associated with obesity. Among adults existence of gender differences has been proven in formation of a dyslipoproteiniaemias and thyropathies; the presence of such changes in obese children requires clarification.Objective and hypotheses: To explore the details of blood lipids in chil...

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Background: Septo-optic dysplasia (SOD) is a rare, congenital condition that mostly occurs sporadically, but can also be caused by mutations in HESX1, OTX2, SOX2, SOX3 genes. Symptoms of SOD include: optic nerve hypoplasia, hypopituitarism and midline brain abnormalities such as absence of septum pellucidum and/or corpus callosum. Hypopituitarism in SOD usually manifests as growth hormone deficiency followed by central hypothyroidism as well as deficiency of gonadotropines. Pr...

Background: Moderately elevated thyroid-stimulating hormone (TSH) with normal serum concentrations of free thyroxine (fT4), suggesting subclinical hypothyroidism, is the most common hormonal abnormality in obese children. Controversy remains whether thyroid dysfunction related to obesity has an influence on the cardiovascular risk factors.Objective and hypotheses: The aim of the study was to assess correlation between TSH and fT4 and chosen atherogenic r...

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.Method: The child without any significant medical history, admitte...

Background: Vascular Endothelial Growth Factor (VEGF) is largely produced by adipose tissue and is an important regulator of physiological and pathological angiogenesis in adults with obesity.Objective and hypotheses: To determine the nature of VEGF production and its connection to the formation of vascular complications in patients with childhood obesity.Method: In 87 children (42 boys and 45 girls) 9–17 years old with obesit...

Background: In autoimmune thyroiditis type Hashimoto the key role in thyrocytes destruction plays the spontaneous cytotoxic activity of T cells, and antibodies dependent mechanisms are of a less value. A spontaneous cytotoxicity is associated with the number and degree of activity of NK cells. An important role in this process plays perforin contributed in permabilization of target cells.Objective and hypotheses: The aim of the study was to evaluate the ...