ESPE Abstracts

Background: Achondroplasia (ACH) is an autosomal dominant condition, resulting from pathogenic missense FGFR3 (fibroblast-growth-factor receptor-3) variants. Foramen magnum stenosis (FMS) is a severe complication, with infants and younger children being at higher risk. FMS may be asymptomatic or cause cervical-medullary compression (CMC), presenting with hydrocephalus, hypotonia or hypertonia, central sleep apnea and sudden death. The scope of the stu...

Background: Thyroid diseases rank first in endocrine pathology among children with the iodine deficiency disorder (IDD) being the significant part.Objective and hypotheses: To study the frequency of thyroid pathology in view of the results of the profound preventive medical check-up of 14-year-old teenagers of Krasnodar.Method: We examined 578 adolescents (301 boys and 277 girls). All adolescents were examined by an endocrinologist...

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

Introduction: Parathyroid carcinoma (PC) is a malignant neoplasm and occurs in patients with primary hyperparathyroidism (PHPT) in less than 1% of cases. There are few descriptions of PC in children in the literature. Clinical manifestations of PHPT in children are highly variable: the disease may present with dyspeptic manifestations, symptoms of intoxication, bone deformities, urolithiasis, cholelithiasis or be asymptomatic.Mat...

Introdaction: The prevalence of Diabetes type 1 constantly increases worldwide from birth to 12 years with a peak in school age. The appearance of students with diabetes in class may be a challenge for their teachers. Diabetic children spend routinely most of their daytime at school and may need adult support in insulin injections or at episodes of hypo and hyperglycemia during school activities and meals. Therefore, our study aims to evaluate the knowledge an...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Introduction: The anxiety for hypoglycemia is a major stress factor for parents of children with T1DM and has been associated with poor diabetic control, reduced insulin doses and school-age children.Purpose: To determine the frequency and severity of parental anxiety for hypoglycemia and the associated factors.Patients and methods: The study included parents [21 (23.9%) fathers and 67 (76.1%) mothers] of 88 T1DM patients, with a m...

Introduction: Metabolic syndrome (MS) is a known complication of obesity. It is still unclear whether gender and puberty influence the prevalence of MS in children and adolescents.Objective: Aim of the study was to evaluate the effect of gender and puberty on the prevalence of MS and on cardiovascular risk factors (CVRF) in obese children and adolescents.Patients and Methods: 1437 obese patients (age 9.7 (2.2–17.9) ys; 660 Mal...

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...