hrp0092p1-210 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Subcutaneous Fat Necrosis of the Newborn: A Systematic Review of the Literature

Frank Leonie , Brandt Stephanie , Wabitsch Martin

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...

hrp0097p1-71 | Fat, Metabolism and Obesity | ESPE2023

Obesity prevalence and gender incongruence – Results from a systematic literature review

Winner Kay , Brandt Stephanie , Wabitsch Martin

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...

hrp0097p1-251 | Fat, Metabolism and Obesity | ESPE2023

Overweight and obesity in childhood and adolescence is associated with an increased fracture risk - Results of a systematic literature review

Brandt Stephanie , Schroth Viola , Wabitsch Martin

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 ...

hrp0095p1-112 | Growth and Syndromes | ESPE2022

Long-term follow-up of aromatase-inhibitor use in 3 family members with aromatase excess syndrome

Giannopoulou Eleni , Brandt Stephanie , Schmidt Martin , Fukami Maki , Wabitsch Martin

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...

hrp0084p2-371 | Fat | ESPE2015

Prevalence and Phenotypic Characterization of MC4R Mutations in a Large Paediatric Cohort

Vollbach Heike , Brandt Stephanie , Lahr Georgina , Wabitsch Martin

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...

hrp0084p3-1250 | Programming & Misc. | ESPE2015

A Survival Analysis Approach to Assess the Association between Maternal Prepregnancy Overweight and Childhood Overweight: Results of the Ulm Birth Cohort Study (UBCS)

Brandt Stephanie , Brenner Hermann , Genuneit Jon , Rothenbacher Dietrich , Wabitsch Martin

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 ...

hrp0095p1-450 | Diabetes and Insulin | ESPE2022

Unstable glycaemia in rare, early-onset Shwachman-Diamond syndrome-associated diabetes mellitus

Navasardyan Lusine , Furlan Ingrid , Brandt Stephanie , Schulz Ansgar , Wabitsch Martin , Denzer Christian

Shwachman-Diamond syndrome (SDS) is a rare congenital disease, which is caused by SBDS gene mutations. The main characteristics of SDS are pancreatic exocrine deficiency, hematological dysfunction, and skeletal growth failure. Emerging data from case reports and patient registries suggest, that SDS could also be associated with an increased risk for diabetes mellitus. Additionally, a small number of case reports in the literature describe a susceptibility to hypoglycaemia as a...

hrp0095p2-98 | Fat, Metabolism and Obesity | ESPE2022

Effects of long-term metreleptin replacement therapy on weight and comorbidities in a patient with bioinactive leptin

Zorn Stefanie , von Schnurbein Julia , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin

Introduction: Congenital leptin deficiency can be treated with the human leptin analogon metreleptin as first reported in 1999. To date, the long-term effects (> 1 year) of metreleptin treatment on anthropometry and comorbidities have only been described in 8 patients with leptin deficiency. Here, we present the long-term effects of metreleptin substitution on weight and comorbidities in a patient with bioinactive leptin.Metho...

hrp0084p3-840 | Fat | ESPE2015

Are Age and Initial BMI-SDS in Obese Children and Adolescents Associated with the BMI-SDS Courses During and after the Attendance of an Inpatient Weight-Loss Program (LOGIC-Trial)?

Brandt Stephanie , Wabitsch Martin , Heitkamp Melanie , Geilhof Barbara , Langhof Helmut , Halle Martin , Siegrist Monika

Background: It has been discussed in literature, that being severely obese and adolescent are predictive for failure in a behavior based weight-loss program.Objective: To investigate the association between age and initial BMI-SDS with BMI-SDS courses during and after the attendance of an inpatient weight-loss program.Design: The LOGIC-trial involves overweight and obese children and adolescents (6–19 years), who participate i...

hrp0094p2-195 | Fat, metabolism and obesity | ESPE2021

Assessment of Hyperphagia in Patients with Monogenic Obesity

Zorn Stefanie , von Schnurbein Julia , Schirmer Melanie , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin ,

Introduction: Besides an excessive, early-childhood weight gain, hyperphagia is the key symptom in patients with monogenic obesity. However, the assessment of hyperphagia is still challenging. Here, we applied the hyperphagia questionnaire developed for patients with Prader-Willi-Syndrome (PWS) to assess the severity of hyperphagia in patients with monogenic obesity.Methods: Pediatric patients with biallelic pathogenic l...