ESPE Abstracts

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

Objective: The aim of this study was to compare the psychometric and psychosocial profile of children and adolescents survivors of pediatric cancer to that of healthy controls.Methods: Children and adolescents survivors of pediatric cancer, aged 7–17 years, who attended the Hematology-Oncology Unit of the First Department of Pediatrics, and healthy controls who visited the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of ...

Background: Subcutaneous gonadotropin-releasing hormone (GnRH) analog test is an alternative to standard intravenous GnRH test for diagnosing central precocious puberty (CPP). Previous studies showed different cutoffs of basal and peak serum LH levels following intravenous GnRH and subcutaneous GnRH analog for diagnosing CPP girls. However, no study that defined the discriminating basal and peak LH levels among CPP and premature thelarche (PT) girls with different breast Tanne...

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...

Background: Evaluation of glucose metabolism is currently based on 2 h glucose during an oral glucose tolerance test (oGTT) or fasting glucose and insulin or A1c, as these are the only parameters where cutoff values exist. This does, however, not adequately reflect the degree of hyperinsulinemia due to insulin resistance in obese children.Objective and design: From frequent glucose and insulin levels during an oGTT of 64 healthy lean children (aged 7.7&#...

Background: Despite the lack of drugs, conservative management of childhood obesity allows for considerable weight reduction.Objective and hypotheses: i) To evaluate anthropometric and metabolic changes in obese children after intense weight loss. ii) To analyze the influence of the amount of weight loss and the time spent to attain it on the observed changes. iii) To investigate BMI evolution during the first 3 years after weight reduction.<p class=...

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Background: Adolescent hyperandrogenemia is prophase of polycystic ovary syndrome. Obesity is one important cause of hyperandrogenemia. Whether hyperandrogenemia has happened in obese children is need to explore.Aims and objectives: To investigate the levels of insulin and androgens in obese children, analysis the correlation between insulin resistance and androgens, and comparison on the differences of androgens levels between obese boys and girls, and ...

Introduction: Gonadotropin releasing hormone analogs(GnRHa) have been used safely for many years in the treatment of central precocious puberty(CPP).Although rare; pain, swelling, erythema at the injection site are known local side effects in patients receiving GnRHa treatment and are temporary.Sterile abscess(SA) development is also one of the rare local side effects.We presented three cases of treatment failure due to the development of SA after GnRHa therap...

Background: Although Centers for Disease Control and Prevention (CDC) and World Health Organization growth charts, dichotomizing “girls versus boys,” are commonly used, scenarios exist where this binary approach may not be ideal. These scenarios include care for transgender youth undergoing transitions, non-binary youth, and rare diseases where sex-specific growth chart creation is impractical. There is a need for growth charts and z-score calculat...