hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

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:...

hrp0092p1-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Nationwide Study of the Prevalence & Initial Management of Atypical Genitalia & Delayed Sex Assignment in the Newborn

Rodie Martina , Ali Salma , Jayasena Arundathi , Al-Enazi Naser , McMillan Martin , Cox Kathyrn , Cassim Sumaiya M. , Henderson Stuart , Ahmed S.Faisal

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

hrp0084p2-392 | GH & IGF | ESPE2015

Unaltered Ratio of Circulating Levels of GH Isoforms after Administration of Different GH Provocative Tests in a Population of Short Stature Children

Rigamonti Antonello , Meazza Cristina , Bidlingmaier Martin , Muratore Valentina , Martina Luparia , Bini Silvia , Pagani Sara , Cella Silvano , Bozzola Mauro

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

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...