ESPE Abstracts

Introduction: The prevalence of obesity in children and adolescents is increasing globally, prompting investigations into its effects on various health parameters, including thyroid function.Aim of the Review: To elucidate the relationship between obesity and thyroid function in the pediatric population through a review of recent studies.Review Results: Analysis of studies involvin...

These authors published (Bol. S Vasco- Nav Pediatr 2016; 48: 12-16) the situation of this cohort is well characterized in relation to weight, regular school exercise and/or going to the school cafeteria. It was shown that, although the population was of a medium-high socioeconomic level, the overweight situation was lower among children with regular school exercise, with no evident influence between those exposed or not to the school cafeteria.Go...

Background and aims: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis.Methods: We describe one patient (three years and seven months old boy) with a novel homozygous Missense mutation in GPIHBP1 gene with cDNA change c.422G>T, Ami...

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...

Background: Childhood is crucial for forming healthy habits. Childhood obesity is particularly concerning as it often predicts obesity in adulthood and increases the risk of morbidity and mortality, posing a significant public health concern. The causes of childhood obesity are multifaceted, involving attitudes, parenting styles, beliefs, knowledge, and behaviors of parents, all of which have a decisive impact on the risk factors associated with childhood obes...

Purpose: The purpose of the study was determination the relationship between body mass index (BMI) and duration of breastfeeding in Azerbaijani childrenMaterial and method: This study was conducted retrospectively on 415 children aged 2-18 years who applied to our clinic in 2017-2023. Children without chronic diseases were selected by checking the anamnesis of disease, operation and trauma, birth characteristics, physica...

Background: Prader-Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has been proven to rescue some symptoms and bring additional benefits to PWS patients, studies in patients under 2 years old are scarce. Thus, this study aims to investigate the effectiveness and safety of rhGH ...

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...

Background: Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aim ed to analyze the clinical characteristics of orthopedic deformities in patients with PWS.Methods: A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI)...

Childhood obesity has become a global pandemic in developed countries, leading to a host of medical conditions that contribute to increased morbidity 13.4% for girls. Here, we describe characteristics of obese children from 5 to 19 years old at the Vietnam National Children’s Hospital in 2023.Methods: Cross sectional study in 437 obese children in 2023.Results: The obese children accounted fo...

Severe early-onset obesity (SEOO) increases the likelihood of obesity persisting into adulthood. Leptin (LEP), a hormone primarily produced in adipose tissue, plays a crucial role in regulating energy balance. When assessing young children with SEOO, it is important to consider abnormalities in the leptin-melanocortin pathway. Our study aim ed to identify children with SEOO who may have LEP deficiency or biologically inactive leptin by analyzing leptin and biologically active ...

Objective: The use of glucagon-like peptide-1 (GLP-1) agonists for the medical treatment of childhood obesity was approved by the FDA four years ago; however, clinical experiences are limited. In this context, our study aims to present the clinical data of obese adolescents receiving liraglutide treatment in our clinic, providing preliminary insights into its efficacy and potential benefits.Method: We retrospectively eva...

Background: Fructose consumption in children is increasing, as is the prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD). Despite the growing evidence supporting the effects of added sugars in the development of metabolic syndrome and related comorbidities, the association between fructose intake and liver diseases remains to be clarified, especially in young people. Our study aim ed to evaluate the role of fructose intake on metabo...

Objectives: The metabolic condition beginning in childhood may increase the risk of premature death from cardiovascular disorders, which are the most common causes of death in the adult population. It is beneficial to diagnose and treat obesity in children because therapeutic intervention can prolong life and put off cardiovascular complications. The aimof the study is analyze of IGF1 and other biochemical factors in obese children and comparison to children w...

Background: Activation of the renin-angiotensin-aldosterone system, hyperinsulinemia, and hyperleptinemia have been implicated in the pathogenesis of obesity-related arterial hypertension (AH). We therefore studied serum renin, aldosterone, leptin, and insulin levels in overweight and obese children with and without AH.Methods: 129 (77 male) overweight/obese (BMI z-score > 1.3 / > 2), children and adolescents, seek...

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25,000 births.Observation: A boy aged 15, from a non-consanguineous marri...

Introduction: Homocystinuria due to cystathionine-beta-synthase (CBS) deficiency is a rare abnormality of methionine catabolism. The diagnosis is suspected on the increase in plasma total homocysteine (Hcyt) and plasma methionine (Met). The diagnosis is confirmed by looking for bi allelic mutations in the CBS gene.Observation: A 14-year-old boy from a consanguineous marriage with no history. 48 hours before his admission...

Introduction: Gayet-Wernicke encephalopathy (GWE) is a disorder characterized by acute onset confusion, nystagmus, partial ophthalmoplegia, and ataxia due to thiamine deficiency. The diagnosis is mainly clinical. The disorder may resolve with treatment, persist, or degenerate into Korsakoff psychosis.Observation: A 5-year-old boy, born at full term, referred to our specialist consultation for growth retardation. The clin...

Introduction: According to World Health Organization, in 2022 over 429 millions of children were obese. Insulin resistance is a resistance to the effects of insulin on glucose metabolism and measured by Homeostasis model assessment- Insulin resistance index (HOMA-IR). Previous studies suggested a correlation between body mass index (BMI) for age and sex with HOMA IR and advised using BMI as a surrogate marker for insulin resistance.<stro...

Background: Activity dependent neuroprotective protein (ADNP) syndrome (OMIM: 615873), also known as Helsmoortel Van Der Aa syndrome (HVDAS), is an autosomal dominant monogenic neurodevelopmental disorder caused by ADNP gene mutations. It is characterized with impaired learning and motor skills, hypotonia, dysmorphic features, organ anomalies, behavioral and psychiatric problems.Aim: To present a female patient with HVDA...

Introduction: The increasing prevalence of pediatric obesity has led to a significant rise in the prescription of weight management medications. Between 2020 and 2035, the projected number of young people with overweight and obesity is expected to be 770 million, representing 39% of the global population, according to the World Obesity Atlas 2024. Glucagon-like peptide-1 (GLP-1) agonists, initially used for type 2 diabetes management, have shown promise in add...

Background: Wernicke Encephalopathy (WE) is an acute life-threatening neuropsychiatric disorder caused by vitamin B1 (thiamine) deficiency. Although commonly associated with alcohol abuse in adults, it can also arise from non-alcoholic causes. WE is rarer in children. To our knowledge, WE has never been described in patients with extreme insatiable hunger due to genetic obesity, which seems paradoxical. We present a case of WE due to acute avoidance, restricti...

Introduction: Sitosterolaemia, is a rare autosomal recessively inherited condition. The incidence in the literature varies hugely between 1/200,000 and 1 in one million. Its incidence is likely underestimated as it is commonly misdiagnosed as familial hypercholesterolaemia. Sitosterolaemia tends to present earlier, with xanthomas, joint pains and very high total cholesterol and LDL. Routine lipid testing does not include specific testing for plant sterols. Onc...

Introduction: Syndromic and monogenic obesities are rare and may have different treatment challenges and options. Patients with POMC, PCSK1, and LEPR mutations can receive setmelanotide therapy. Setmelanotide acts on the melanocortin 4 receptor. Here, as a participant in the Rare Obesity Advanced Diagnosis Project, the results of our patient data are presented.Method: Patients who became obese before the age of 5 and/or ...

Introduction: Monogenic obesity is a rare form of obesity. It should be suspected if patients have severe early-onset obesity, rapid weight gain in the first 2 years of life, hyperphagia, positive family history, and additional clinical manifestations. Genetic testing is highly recommended in such cases, as new pharmacological therapies for several types of genetic obesity exist. Hence, we sought to evaluate the clinical, laboratory and molecular characteristi...

Background: Familial hypercholesterolemia (FH) is the most common monogenic disorder causing premature atherosclerotic cardiovascular disease (ACVD), particularly early coronary artery disease. Homozygous FH (HoFH) is rare and can be clinically silent in most cases, contributing to delay in diagnosis till the occurrence of potentially fatal cardiovascular events (CVE). Patients with HoFH can be highly resistant to standard pharmacological therapies, and treatm...

Background: In children, severe obesity represents a growing public health concern, with implications for both immediate and long-term health outcomes. We present a complex case of an 8-year-old female with autism spectrum disorder (ASD), systemic sclerosis, and severe obesity, further complicated by insulin resistance and poor metabolic control.Case Presentation: Laboratory findings indicate liver inflammation or damage...

Background: Recent studies suggest that osteocalcin (OC) promotes glucose and lipid metabolism via ACAM, integrin αVβ3, GLUT1 and GLUT8 expression, directly affecting adipocytes. OC represents a link between bone and glucose metabolism; it stimulates insulin and stimulates pancreatic β-cells proliferation through Gprc6a receptor. Low levels of OC were observed in adult patients with Type 2 DM suggesting an association with glucose into...

Monogenic obesity is a rare yet clinically significant condition characterized by excessive weight gain stemming from genetic mutations affecting appetite regulation and energy balance. Here, this case series explores the clinical presentation and genetic underpinnings of monogenic obesity in a familial cluster, shedding light on Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) & letin deficiency associated with the genetic variants in the BBS1 and LEPR genes. The index patient...

The purpose of the study was to study the effectiveness of the Liraglutide (Laraglan 18 mg/3 ml, Parla Pharmaceuticals, Azerbaijan) after 4 weeks of treatment in the obesity children over 12 years of age. For this purpose, 18 children were examined. 11 of those examined were girls (61%), 7 were boys (39%). The average age was 12.4&pm;2.1 years. Initial average weight was 73.1&pm;10.2 kg, BMI 30.6&pm;5.6 kg/m2, height 152.5&pm;12.4 cm. After 1 month, the weight was 71.0&pm;8.4 ...

Background: Leptin, a hormone released from adipose tissue, exerts its influence through the leptin receptor located in the arcuate nucleus of the hypothalamus. Leptin receptor mutation is an extremely rare autosomal recessive monogenic disorder, caused by biallelic pathogenic variants in the LEPR gene. Individuals with leptin receptor deficiency exhibit rapid weight gain, severe early-onset obesity, hyperphagia, hypogonadotrophic hypogonadism, and T-...

Objective: determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 160 children in the University Hospital (Minsk) from 2023 to 2024 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, insulin were determined. All children were divided into 2 groups: group 1 children with obesity (O) - 100 patient...

Background: Obesity is one of these chronic diseases that makes difficulties in achieving a therapeutic effect and maintaining the obtained effect both in respect of lost kilograms and preventing from the development of its associated diseases. The children's population has the primacy of development of this disease. Surgical treatment is an alternative and in many cases the only right solution to ineffective conservative treatment. It is one of the stage...

Background: Early onset obesity in children is a multifactorial disorder with significant genetic underpinnings. This research focuses on identifying and characterizing the genetic variants associated with this condition.Objective: To identify genetic variants associated with early onset obesity in children. Subjects and Methods: This study was carried out on 1,540 children diagnos...

Objective: To explore the relationship between overweight, obesity and development of children aged 3 ~ 18 years in Jiangxi Province From 2017 to 2020, a cross-sectional survey was conducted among 36,009 children aged 3-18 years in Jiangxi Province, and the possible influencing factors of obesity and precocious puberty were studied by single factor Logistic regression with SPSS 26.0 software According to the development of BMIS, the correlation between BMI and...