hrp0095rfc6.5 | Sex Development and Gonads | ESPE2022

The effect of GnRHa and testosterone treatment on growth in trans boys

Willemsen Lieve , Boogers Lidewij , Wiepjes Chantal , van Trotsenburg Paul , Klink Daniel , den Heijer Martin , Hannema Sabine

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

hrp0095p1-1 | Adrenals and HPA Axis | ESPE2022

Collection of salivary steroids in children under conditions replicating home sampling

Tonge Joseph , Keevil Brian , Craig Jessica , Langley Joe , Whitaker Martin , Ross Richard , Elder Charlotte

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

hrp0095p1-59 | Diabetes and Insulin | ESPE2022

Type 1 diabetes glycated haemoglobin outcomes did not differ by insulin regimen in two large Cambodian tertiary hospitals

May Ng Sze , IV Malene , Yay Chantana , Chhun Khun Leang , Manet Ban , Martin Tyla , Lek Ngee

Introduction: Action 4 Diabetes (A4D) is a UK non-profit organisation which has been providing free insulin and self-monitoring blood glucose test kits for children and young people (CYP) with type 1 diabetes (T1D) in Cambodia’s 2 large tertiary hospitals-Kantha Bopha II Hospital based in Phnom Penh (KB2H) and Jayavarman VII Hospital based in Siem Reap (J7H), since July 2018 and January 2020, respectively.Objective:</strong...

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...

hrp0095p1-451 | Diabetes and Insulin | ESPE2022

Maintaining insulin and medical supplies for disadvantaged people with Type 1 Diabetes in Southeast Asia during the COVID-19 pandemic

May Ng Sze , Toomey Nicholas , Manet Ban , Lin Kyaw Htun , Khambuapha, Khamtavanh , Martin Tyla , Ooi Fiona

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

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...