ESPE Abstracts

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...

Background: Childhood obesity is a global health problem and co-morbidities develop already during childhood and adolescence. Male obesity impacts negatively on reproductive function. Testosterone is decreased, sperm quality reduced, and the physical and molecular structure of germ cells altered in obese males. However, less is known about the role of prepubertal obesity on future reproductive function. We therefore explored Leydig cell function and reproductive potential in a...

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

Context: Childhood obesity is supposed to affect growth and development in children but there is uncertainty with regard to dynamics and potential causes. We analyzed differences in age-related growth patterns of obese and normal-weight children and their association with circulating endocrine and metabolic factors.Objective/Design: In a large German childhood cohort from Leipzig including 7986 children (22793 data sets) we compared cross-sectional and l...

Background/Aim: Serum NAMPT (nicotinamide phosphoribosyltransferase) levels are altered in adult patients with non-alcoholic fatty liver disease (NAFLD). However, less is known about NAMPT serum levels children and adolescents and their association with parameters of liver function.Methods: Blood and anthropometric data of 416 children and adolescents who participated in the LIFE Child Study Leipzig were collected. Serum NAMPT (Adipogen) and cytokeratin-...

Background: The phosphatase and tensin homolog (PTEN)/phosphatidylinositol-3-kinase (PI3K)/AKT signaling pathway is central for cell cycle control, differentiation, migration, and metabolism. Unrestricted growth of adipose tissue in particular is frequently seen in humans with germline PTEN and mosaic activating PIK3CA mutations, respectively.Objective and hypotheses: We assume that adipocytes from affected tissue show hyperproliferation and modified dif...

Background: The course of type 2 diabetes is more severe among children with obesity than among adults. Therefore, children at high risk for glycemic deterioration should be detected early enough to guide preventive (and interventional) clinical management.Methods: We established age- and puberty-specific reference values for 7 different indexes addressing the insulin response during oral glucose tolerance testing upon 4...

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...