ESPE Abstracts

Introduction: Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogenous condition, and affects one in 100,000 born children. The most well-known genetic mutations in this syndrome are: 11p15 mutation (20–60% patients), and maternal uniparental chromosome 7 disomy (7%–15%). Children with SRS have severely impaired physical growth - intrauterine and after birth. They can be treated with growth hormone (GH).Case report: 8 ye...

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: Autoimmune encephalopathy is usually reported in patient with Hashimoto’s thyroiditis and in Graves’ disease is rather rare, especially in children.Method: We report a boy of 15 years diagnosed with Graves’ disease and treated ineffectively with thyrostatics. After 2 years of the therapy he had recurrence of hyperthyroidism and underwent radical treatment with ablative dose of 131I. After 2 weeks the patient suffered...

Aims: The aims of the study was to evaluate the plasma adiponectin levels in obese children depending on children age, gender, stage of puberty and its relationship with lipid and carbohydrate metabolism parameters.Material and method: The study were involved 122 obese children (52 girls, 70 boys), aged 5.3–17.9 years (11.6±3 years), 52 children in prepubertal, and 65 in pubertal period. Obesity was defined using IOTF criteria. The control grou...

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: In recent years, one of the most frequently studied focuses is the pathophysiology of adipose and muscle tissue; however, in the literature there is no report about regulatory proteins (myokines/adipomyokines), which expression affects the body’s metabolism and communication between tissues especially in children population. Irisin (Ir) is one of the adipomyokines, which induces the conversion of white adipocytes into beige adipose tissue, a...

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...

Aim of the Study: ADAM/ADAMTS family members encode extracellular, multidomain proteolytic enzymes. Mutant Adamts16 mice display cryptorchidism and sterility. We hypothesize that gonadotropin-regulated ADAM/ADAMTS genes are involved in testicular development during mini-puberty.Patients and Methods: Testicular biopsies for histological and RNA-Sequencing analysis from bilateral cryptorchid boys were analyzed. RNA samples...

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a disorder with autosomal dominant inheritance pattern. It is characterized by the occurance of parathyroid, pituitary and pancreatic tumors. MEN1 presented by insulinoma as first presentation in children is very rare. On the other hand insulinoma affects 10% patients with MEN1 and occurs usually in young patients.Case: Eleven years and eight months old girl was admitted, after a syncopal episode ...

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...