ESPE Abstracts

Introduction: Bloom syndrome (BS) is a rareautosomal recessive disorder caused by mutations in the BLM gene, located on the long arm of the chromosome 15 (15q26.1). The typical symptoms of the disease are short stature, low birth weight, dysmorphic features including long, narrow face (dolichocephaly), micrognathism and prominent nose and ears. Other characteristic features include a rash following sun exposure, hyper-pigmented areas or cafe-au-lait s...

Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it ...

Simpson-Golabi-Behmel syndrome is a condition which classified as an overgrowth syndrome and affects many parts of the body and occurs primarily in males. Infants have macrosomia at birth and continue to grow and gain weight at an unusual rate. The incidence of Simpson-Golabi-Behmel syndrome is unknown. Mutations in the GPC3 gene are the most common cause of Simpson-Golabi-Behmel syndrome. About 250 people worldwide have been diagnosed with this disorder. About 10 percent of p...

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...

Introduction: GH deficiency (GHD) is a disease, in which the pituitary gland does not produce enough GH. GHD has a variety of different negative effects at different ages; e.g. it can result short stature and increased adiposity. Excessive intra-abdominal fat is associated with an increased risk of cardiovascular disease. In recent years new adipokines such as:omentin-1, vaspin, and visfatin have been described. Omentin-1 is decreased in obesity in contrast to increased vaspin...

Background: Hamartoma is a benign, focal malformation, which is composed of tissue elements normally found at that site which are arranged chaotically within the mass. It may occur in many different parts of the body and often is undetected. Hypothalamic hamartoma, unlike most such growths, is symptomatic. It may cause gelastic seisures, visual problems, rage disorders and early onset of puberty.Objective and hypotheses: A 4.5-year-old girl was hospitali...

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...