ESPE Abstracts

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

Introduction: 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 the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

Background: The pathogenesis of autoimmune thyroid diseases depends on many factors including genetic predisposition and environmental factors. Graves' disease and Hashimoto's thyroiditis are associated with an impaired immunological tolerance to antigen molecules in the thyroid gland. Abnormal immunotolerance results from impaired suppression involving regulatory T cells in peripheral immunocompetent tissues (Tregs). It is known that patients with a...

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

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: 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...

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...