ESPE Abstracts

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: 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...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...

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...

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...

Introduction: Elastography is a noninvasive imaging technique based on estimation of the tissue flexibility. There are two methods of elastography: Static Elastography and Shear Wave Elastography. Scale of deformation under pressure is presented as a colourful map – elastogram, where red colour signify soft tissues, green colour signify middle tough tissues and blue colour signify tough tissues. Analysis of elastograms enable us to present results as ROI1/ROI2 index. In a...