hrp0084p3-908 | Fat | ESPE2015

The Prevalence of Obesity in Children and Adolescents in the Udmurt Republic

Kovalenko Tatiana , Larionova Maria

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 ...

hrp0094mte5 | Management of MEN1 in children and adolescents | ESPE2021

Management of MEN1 in Children and Adolescents

Luisa Brandi Maria ,

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...

hrp0094p2-231 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Hyperinsulinaemic hypoglycaemia as a MEHMO syndrome component: a case report

Gubaeva Diliara , Melikyan Maria ,

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...

hrp0095p1-285 | Fat, Metabolism and Obesity | ESPE2022

Nutritional disparities among Brazilian children: study of the temporal trend of the BMI from 2010 to 2021.

Machado Pinto Renata , Carvalho Lima Vitor , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Paulo do Carmo Assunção Marcos , Lima Mutão Stival Nicolle , Oliveira Vaz Tiago

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...

hrp0095p2-103 | Fat, Metabolism and Obesity | ESPE2022

Reduction of The Nutritional Diagnosis of Eutrophy Among Brazilian Adolescents, Evaluation From 2010 to 2021

Machado Pinto Renata , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Karoliny da Cunha Santos Viviane , Nascimento Fernandes Franco Nathália , Rodrigues Cardoso Jaína , Oliveira Alves Bruna

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

hrp0094fc2.3 | Fat, Metabolism and Obesity | ESPE2021

A Phase 2 Trial of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to SRC1 Insufficiency: Body Weight, Body Mass Index Z Score, and Safety Results

Farooqi Sadaf , Argente Jesus , Martos-Moreno Gabriel , Oral Elif , Spiliotis Bessie , Kostopoulou Eirini , Pinhas-Hamiel Orit , Ben-Ami Michal , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Stewart Murray , McCormack Shana ,

Background: Rare genetic diseases of obesity can be caused by genetic variants leading to disrupted activity of the melanocortin-4 receptor pathway (MC4R). Setmelanotide, an MC4R agonist, is being investigated in a basket study of populations with rare variants in different genes in the MC4R pathway who have early-onset, severe obesity and hyperphagia.Methods: This ongoing, Phase 2, open-label study (NCT03013543) enrolle...

hrp0092p1-206 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Unusual Congenital Hyperinsulinism Case in a Patient with a Pathogenic GCK Mutation

Gubaeva Diliara , Kareva Maria , Milovanova Natalia , Tiulpakov Anatoly , Melikyan Maria

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 ...

hrp0089p2-p181 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Clinical characteristics of Congenital Hyperinsulinism Caused by Dominant KCNJ11/ABCC8 Mutations

Melikyan Maria , Gubaeva Diliara , Tyulpakov Anatoliy , Kareva Maria

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...

hrp0089p3-p207 | GH &amp; IGFs P3 | ESPE2018

Erythropoietin and Granulocyte Macrophage Colony Stimulating Factor Levels in Growth Hormone Deficient Children after 1 Year of Growth Hormone Therapy

Pankratova Maria , Vorontsova Maria , Yusipovich Alexander , Shiryaeva Tatiana , Peterkova Valentina

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...

hrp0086p1-p619 | Growth P1 | ESPE2016

Mutations in PROP1 Gene in Combination with 47,XYY Karyotype: Case Report

Pankratova Maria , Gubaeva Diliara , Kareva Maria , Tiulpakov Anatoly , Peterkova Valentina

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...