ESPE Abstracts

Maternal new-diagnosed Graves’ disease is quite rare thyroid dysfunction with an estimated incidence of 0.4–1% of all pregnancies, but only 1–5% of newborns delivered to mothers with Graves’ disease develop overt clinical signs and symptoms of hyperthyroidism. Neonatal hyperthyroidism almost always is transient and results from the transplacental passage of maternal thyrotropin (TSH) receptor stimulating antibodies. Neonates born to mothers with Graves&#146...

Background: Hyalinizing trabecular tumour is a rare, begin thyroid neoplasm, which shares some histologic features with thyroid papillary carcinoma or medullary carcinoma. Sometimes it is misdiagnosed as papillary carcinoma on fine-needle aspiration cytology (FNAC). The aetiology of hyalinizing trabecular tumour is unknown. The tumour may arise in a background of chronic lymphocytic thyroiditis, multinodular goitre, or after radiation exposure. Hyalinizing trabecular adenoma (...

Introduction: The presence of ZnT8 (zinc transporter 8) has been described on the surface of beta pancreatic cells in type 1 diabetic patients and the ZnT8 Ab (zinc transporter-8 autoantibody) has been recently established as a new marker of this autoimmune disease. There are studies demonstrating that ZnT8 may be of importance in some other endocrine cell types. In our study we wanted to verify the presence of ZnT8 in thyroid cells of children and adolescents...

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

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. Moreover it was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. ZnT8 autoantibodies (ZnT8 Ab) next to glutamic acid decarboxylase antibodies (GAD Ab), insulin autoantibodies (IAA), and islet antigen-2 antibodies (IA-2 Ab) have been described as markers of autoimmune process ...

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...