ESPE Abstracts

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

Background: Obesity is accompanied with the development of serious complications, including behavioural disorders. Obesity with impaired neuroendocrine status confirmed, but papers describing these interactions are a bit.Objective and hypotheses: To compare the state of neuroendocrine status in children with various forms of obesity and normal weight control to the evaluation of central hormonal regulators of energy balance.Method:...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Background: The effects of carbohydrate-restricted (ketogenic) diets on metabolic parameters in children have been incompletely assessed.Objective and hypotheses: Effective treatment options for childhood obesity are limited and the risk of significant co-morbidities increase sharply with age, especially in paediatric population where growth is normally still occurring. The purpose of this study was to evaluate the feasibility, the efficacy and the safet...

Background: In precocious puberty, girls experienced secondary sexual development earlier psychologically as well as physically. Self-stress due to a different body shape from the peer group, psychological concerns due to discrepancies between physical and chronological age, and long-term behavioural problems could occur.Objective and hypotheses: The aim of this study was to evaluate psychosocial changes in girls with precocious puberty between before an...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

Background and Aim: Several genetic variants associating with hepatic fat content in adults have been identified in genome-wide association studies. Their effects in children remain unclear. This study aimed to test the effect of genetic variants known to associate with hepatic fat in adults, individually and combined as a genetic risk score (GRS), on cardiometabolic traits, and to investigate the predictive ability of the GRS for hepatic steatosis in children...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Introduction: Graves’ Disease (GD) is autoimmune hyperthyroidism occurring mostly in adolescent girls. The main pathogenic role of the disease is attributed to TSH receptor antibodies (TRAb), which stimulate the thyroid gland to increase the production of the most active thyroid hormone- triiodothyronine (T3). High levels of TRAb and a large goitre size are commonly known as poor prognostic factors for the disease and are used to predict relapse.<p c...

Background: Despite different genetic backgrounds, Noonan syndrome (NS) shares similar phenotype features to Turner syndromes (TS) such as short stature, webbed neck and congenital heart defects. The primary cause of short stature in Turner syndrome and Noonan syndrome is GH resistance [1]. Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial.<p c...