ESPE Abstracts

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

Background: Studies in young mammals on the qualitative and quantitative molecular effects of food restriction (RES) and re-feeding, leading to catch up growth (CU) are scarce. Whereas RES may lead to growth and developmental deficits in children, it is a proven treatment to prolong life in all animals checked.Objective and hypotheses: We used MS analysis to understand how RES might lead to growth attenuation and prolonged life span and identify the majo...

Background: The association between nutrition and growth is common knowledge but the mechanism is still unelucidated. Several reported cases in the literature describe growth without GH, that in most cases were associated with obesity, suggesting, that the adipocytes might have a role in regulating linear growth.Objective and hypotheses: The aim of the study was to search for a skeletal growth factor that is secreted by adipocytes....

Background: Poor appetite is common in children with idiopathic short stature (ISS), and is usually improved with GH therapy.Objective and hypotheses: To investigate the effect of GH therapy on appetite regulating hormones following a standard meal test (SMT) and to examine the association between these changes and growth response, body composition and resting energy expenditure (REE).Method: Nine ISS pre-pubertal children underwen...

Background and Aims: The most effective environmental factor that affect longitudinal growth is nutrition, but the exact composition and the relative benefits of specific dietary proteins in supporting linear growth is unknown. In the current study, we compared the effect of whey and soy proteins on linear growth and bone strength in young fast growing male rats. Both proteins contain all essential amino acids and are considered the best proteins in their cate...

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...

Pediatric overweight and obesity are also an issue in children and adolescents with type 1 diabetes (T1D). Body Mass Index (BMI) is an accurate and widely used clinical method for assessing childhood obesity.Objective: To analyze the BMI-standard deviation scores (SDS) in Bulgarian children and adolescents with T1D and its relationship with age, gender, type of insulin treatment, and HbAlc.Materials and Met...

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...