ESPE Abstracts

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

Background: Subcutaneous fat necrosis of the Newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcemia. Pathophysiological mechanisms caus...

Introduction: Elevated obesity prevalence among transgender individuals compared to cisgender control groups or general population have been reported in some studies. Whether there is a higher prevalence for obesity in transfeminine and transmasculine persons at different age groups has not yet been systematically studied.Methods: We performed a systematic literature search using Pubmed and Google Scholar. Following sear...

Introduction: Up to now, no systematic literature review has studied whether overweight or obesity compared to normal weight in childhood and adolescence is associated with an increased fracture risk (fractures overall and by site).Methods: The systematic literature search was conducted in PubMed/Medline, Embase, Cochrane Library, BIOSIS databases using defined keywords and MeSH terms. 1,677 publications were identified ...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

Background: The melanocortin-4-receptor (MC4R) plays a key role in body weight regulation. Hypothalamic activation of MC4R reduces food intake and increases energy expenditure. Mutations in the MC4R gene lead to the most common cause of monogenetic obesity. More than 150 different mutations are currently known. Their prevalence in obese subjects differs between 0.2 and 5.8%, depending on ethnicity, age and grade of obesity of the analysed cohort. Impact on phenotype a...

Background: It has been suggested that maternal prepregnancy overweight has an effect on childhood overweight.Objective: We aimed to use a survival analysis approach to investigate the association between maternal prepregnancy overweight and childhood overweight in the prospective Ulm Birth Cohort Study (UBCS).Design: At baseline n=1086 mothers and their newborns agreed to participate in the UBCS. Weight and height values ...

Background and Aim: Pediatric patients with germline mutations in the tumor suppressor gene PTEN (PTEN hamartoma tumor syndrome, PHTS) frequently develop lipomas. PTEN antagonizes phosphoinositide 3-kinase (PI3K) signaling, which can induce adipogenesis upon activation through insulin. The PI3K downstream target AKT can deactivate FOXO1 via phosphorylation, initiating the expression of the lipogenesis activating transcription factor SREBP1. To study t...