ESPE Abstracts

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

Recently, we identified Neuritin 1 (NRN1) as preferentially expressed in human white compared to brown adipocyte progenitor cells. In mice, Nrn1 deficiency leads to a reduction in body weight, indicating that it might regulate body weight. In this study, we aim to address the function of NRN1 regarding adipocyte metabolism in vitro and in vivo. We used human SGBS preadipocytes as an in vitro model system. NRN1-deficient cells were generated using len...

Daily injections are required for human growth hormone (GH) replacement therapy. Somapacitan is a long-acting GH derivative being developed for once-weekly dosing in adults and children using a proven protraction method, currently successfully in use to extend the half-life of insulin and glucagon-like peptide 1.To evaluate the efficacy and safety of three different once-weekly somapacitan doses compared with Norditropin®, a daily GH, ove...

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

Homozygous loss-of-function mutations of the calcium-sensing receptor gene (CaSR) are associated with neonatal severe hyperparathyroidism (NSHPT), a life-threatening condition with a challenging treatment approach.We report a 7-day-old-female infant who was admitted to our Pediatric Department due to poor sucking. On examination she was lethargic and hypotonic. Laboratory evaluation revealed extreme hypercalcemia of 23.54 mg/dL (N: 7.6–10.4...