ESPE Abstracts

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Background: Elastography is non-invasive ultrasound method of imaging based on estimation of mechanical properties (elasticity) of the tissue. Recent data has shown its ability to differentiate benign from malignant tumours. Decreased flexibility in comparison to around tissue is characteristic for malignant tissues, like most thyroid carcinoma (except follicular thyroid carcinoma). Analysis of the image gives the result presented as a ROI1/ROI2 index.Ob...

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coc...

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 ...

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...

The most common hyperthyroidism in children is Graves' disease. The other rare cause of hyperthyroidism is activating mutation in receptor TSHR in thyroid gland.We would like to introduce a case of familial hyperthyroidism with a novel mutation M453V in the TSHR in three membersActually 11-year-old boy is a patient in outpatient clinic for first days after birth. During gestation his mother was treated with thyreostatic drugs b...