ESPE Abstracts

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

Introduction: Leptin, some cytokines and triglycéride/colesterol -HDL ratio (TG/C-HDL ratio) are markers of insulin-resistance in children and adolescents with overweight/obesity. Due to the high prevalence of this pathology it’s necessary to find and easy and better routinely marker that identify these patients in the outpatient clinic. Previous results demonstrated that TG/C-HDL ratio >2 was a better predictor of metabolic syndrome (sensitivity 100%; specificit...

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

Background: DLK1 (PREF1) is a key inhibitor of adipogenesis and adipocyte differentiation. Adipose tissue expansion depends on adequate adipocyte differentiation. However, whether lower DLK1 expression facilitates adipose tissue expansion following fetal growth restriction is so far unknown.Objective and hypotheses: To study the expression of DLK1 in the adipose tissue of prenatally growth-restricted rats and its relat...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...