ESPE Abstracts

Children with ISS vary in their response to GHT. We conducted a post hoc analysis to identify clinical characteristics associated with very good or poor response during year 1 of GHT in a subset of 1550 GH naïve children with ISS from NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). We included patients aged 3–11 years (males) or 3–10 years (females) at treatment start, prepubertal throughout year 1 of treatment, with height SDS...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

Background: The majority of children with short stature are classified as idiopathic short stature. Whole exome sequencing can help identify genetic causes of short stature.Methods: We recruited 10 children with short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that might cause the short stature. All rare allelic var...

Background: Epidemiologic studies have shown strong associations between high carotenoids levels and reduced risk of developing various forms of cancer, cardiovascular system diseases, etc.Objective and hypotheses: Carotenoids are hydrophobic substances and are contained in blood in lipoprotein particles. Their conformation depends on their molecular environment. By evaluating the conformation of carotenoids we can obtain various information about the li...

Background: In the last decade, an increase in the incidence of type 1 diabetes mellitus (T1D) has been observed worldwide, as well as an increase in the incidence of allergies in childhood. Both diseases are characterized by an imbalance between Th1- and Th2 cells. Autoimmune disorders are considered to be associated with a Th1 immune response while allergic diseases with a Th2 response. However, studies conducted to find a correlation between T1D and atopic diseases are hete...

Background: Adults have a weight that is normal for them. This is referred to as their ‘set-point’ for weight. Studies have shown physiological protection of this set-point, explaining why most obese adults who diet eventually regain weight.Objective and hypotheses: We hypothesised that set-points for weight, and their physiological defence, are flexible in childhood but become fixed sometime around puberty. We aimed to show that obese children...