ESPE Abstracts

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...

Approximately 12% to 17% of MEN1 patients are diagnosed with the disease in the first two decades of life. Clinical evident disease appears uncommon before adolescence, with consensus guidelines currently recommending phenotype screening of confirmed MEN1 carriers commencing by age 5 years. A recent publication reviewed the recent literature in this area, that demonstrates that mortality is rare in children and young adults, whereas morbidity is not uncommon for various endocr...

Introduction: MEHMO syndrome (mental retardation, epileptic seizures, hypogenitalism, microcephaly, and obesity) is a rare X-linked disorder causes by EIF2S3 gene mutations. This gene encodes a key factor for integrated stress response and initiation of protein synthesis. Since many hormones are proteins or peptides by nature, some of the reported cases of MEHMO syndrome include endocrine disorders: hypopituitarism (hypogonadism, growth hormone defici...

Introduction: The increasing prevalence of obesity in children and adolescents is contributing to the increasing diagnosis of insulin resistance (IR) in these individuals. However, it remains a worldwide problem to establish diagnostic criteria of IR in the developmental-age population. IRIHOMA and the IRIBelfiore are the well-known indices used in clinical practice. The aim of the study was to compare the usefulness of IRIBelfiore and IRIHOMA in the early dia...

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children and infants. It is characterized by a dysregulation of insulin secretion from pancreatic β-cells and mostly associated with recessive inactivating mutations in the β-cell ATP-sensitive potassium (KATP) channel genes – KCNJ11 and ABCC8. Dominantly inherited mutations in these genes are usually associated with mild forms of diazoxide responsive HI. Rec...

Background/Aims: An increase in growth rate in children suffering from growth hormone deficiency (GHD) subjected to recombinant growth hormone treatment (rGHT) was shown to be accompanied by acceleration of metabolic processes that may stimulate hematopoiesis. Therefore, the aim of the present study was to examine the effects of one year rGHT on erythropoietin (EPO) and Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) levels in GHD children.Meth...

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...