ESPE Abstracts

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...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

Introduction: The pathogenetic process in type 1 diabetes mellitus includes a complex mechanism between genetic and immunological factors. Chronic autoimmune reaction relies upon the detection on autoantibodies in the patient’s serum long before initiation of the disease. Autoimmune markers include mainly 4 types of antibodies - GAD65, IAA, ICA and IA-2, some present in children less than 10 years (IAA, ZnT8), and some later in life (GAD, IA-2).The presen...

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...

Background: Symptomatic fasting hypoglycemia has been reported as an uncommon side effect in patients with acute lymphoblastic leukemia (ALL) on maintenance therapy with purine analogs. The exact mechanism of the hypoglycemic effect of the antimetabolic therapy remains unclear. The association of 6-mercaptopurine (6-MP) therapy with hypoglycemia and hyperinsulinemia has not been described previously.Case: A 6 9/12 years old girl with pre-B ALL and 6-MP t...

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: 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...