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...

hrp0095p1-64 | Fat, Metabolism and Obesity | ESPE2022

microRNA-27a - a strand specific regulator of adipogenesis and adipocyte function

Roos Julian , Wu Hang , Pula Taner , Tews Daniel , Wabitsch Martin , Debatin Klaus-Michael , Fischer-Posovszky Pamela

MicroRNAs (miRNAs) are small non-coding RNA molecules and play an important role in the post-transcriptional regulation of gene expression and thereby influence important cellular functions. In adipocytes, miRNAs regulate key processes such as differentiation, inflammation, metabolism, and adipokine secretion. Recently, we found that miR-27a is upregulated under proinflammatory conditions in human adipocytes. Thus, our goal was to better understand the function of miR-27a in a...

hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Cayir Atilla , Turkyilmaz Ayberk , Rabenstein Hannah , Guven Fadime , Sumeyra Karagoz Yuksel , Wabitsch Martin , Demirbilek Huseyin

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

hrp0095p1-278 | Fat, Metabolism and Obesity | ESPE2022

e-REC Capturing The Occurrence and Burden Of COVID-19 Infections In People With Rare Genetic Obesity Disorders

Kerkhof Gerthe , Wabitsch Martin , Bryce Jillian , Johannsson Gudmundur , Ahmed Faisal , van den Akker Erica

Introduction: Following the onset of the COVID-19 pandemic in spring 2020, the European Registries For Rare Endocrine Conditions (EuRRECa), which is a collaboration between Endo-ERN, ESPE and ESE provided the possibility for registration of cases. Obesity is a risk factor for severe COVID-19 disease course in adults. In children and adolescents, COVID-19 disease course is much milder, but has also been identified as risk factor. As rare genetic obesity disorde...

hrp0095p2-69 | Diabetes and Insulin | ESPE2022

Impact of β-cell function and glucose effectiveness on the development of type 2 diabetes mellitus in obese European children and adolescents

Ellen Kratzer Sophie , Vogt Josef , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin , Denzer Christian

Objectives: Despite high prevalence rates of childhood obesity, youth-onset T2DM occurs in a comparably lower incidence in Europe than in other world regions. Available data from cohorts of obese children and adolescents living in the US suggest a parallel decline of insulin sensitivity and β-cell function as key factors in the pathophysiology of early-onset T2DM. If these results can be applied to European children and adolescents is currently unknown.</...

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...

hrp0095p2-276 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

The challenge of gender identity due to 5α-reductase deficiency- a case report

Herrmann Gloria , Bauer Agnes , Winner Kay , Kapapa Melanie , Stoll Elvira , Serra Alexandre , Wabitsch Martin

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

hrp0089fc6.5 | Fat, Metabolism and obesity | ESPE2018

The Role of Adipocytes in Childhood Precursor Bcell Lymphoblastic Leukemia

Brenner Elena Dorothea , Zinngrebe Julia , Dahlhaus Meike , Meyer Lueder-Hinrich , Wabitsch Martin , Debatin Klaus-Michael , Fischer-Posovszky Pamela

Acute lymphoblastic leukemia (ALL) is the most prevalent cancer in childhood. Over the past decades, survival rates increased, but relapse is still associated with a poor prognosis, especially if the bone marrow (BM) is affected. Marrow adipose tissue (MAT) constitutes a major part of the BM niche, but its impact on normal hematopoiesis versus leukemia initiation, progression and relapse has only recently gained attention. MAT is very sensitive to changes in the patient’s...

hrp0089p3-p142 | Fat, Metabolism and Obesity P3 | ESPE2018

Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip)

von Schnurbein Julia , Schaaf Jannik , Cecarini Giovanni , Vantyghem Marie-Christine , Vatier Camille , Nagel Gabriele , Araujo-Vilar David , Wabitsch Martin

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

hrp0086fc13.2 | Management of Obesity | ESPE2016

Measurement of Immunofunctional Leptin to Detect Patients with Functional Leptin Deficiency

Wabitsch Martin , Pridzun Lutz , Ranke Michael , Flehmig Bertram , Fischer-Posovszky Pamela , Moss Anja , Schaab Michael , von Schnurbein Julia , Kratzsch Jurgen

Background: Recently, patients with severe obesity have been described due to functional leptin deficiency. This new entity is characterized by high immunoreactive levels of circulating leptin (Lep), but a reduced bioactivity of the hormone due to defective receptor binding (N Engl J Med 2015;372:48–54). Since these patients can be successfully treated with human recombinant leptin (metreleptin), a diagnostic tool to detect functional leptin deficiency is needed.<p cl...