hrp0095lb5 | Late Breaking | ESPE2022

Incidence and Severity of Type 1 Diabetes Mellitus during COVID-19 Pandemic

Dieguez Abigayil , DeLacey Sean , Lado Juan , Levin Laura , Ranganna Adesh , Wu Margaret , E. Bianco Monica

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

hrp0095p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynecomastia and Short Height;45,X[2]/ 46,X, +mar[28] karyotype

Derya Buluş Ayşe , Dünya Betül , Yaşartekin Yüksel , Cevdet Ceylan Ahmet

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

hrp0092p1-309 | Diabetes and Insulin (2) | ESPE2019

Level of Glycemic Control in Pediatric Patients with Type 1 Diabetes in Bern: A Cross-Sectional Study

Ch. Zingg Tanja , Dennig Michelle , Sommer Grit , Flück Christa E.

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

hrp0092p2-149 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN

Galcheva Sonya , Iotova Violeta , Ellard Sian , Chuperkova Jivka , Bazdarska Yuliya , Bocheva Yana , Flanagan Sarah E.

Background: Hyperinsulinaemic hypoglycaemia (HH) is a clinically and genetically heterogeneous group of disorders characterized by persistent hypoglycaemia due to inappropriate insulin secretion from the pancreatic β-cell.Aim: The objective was to analyze the demographic, clinical and genetic characteristics of patients with HH, diagnosed and/or treated at a tertiary endocrine center, part of the European referen...

hrp0089fc3.4 | Diabetes and Insulin 1 | ESPE2018

Is the Glycaemic Response from Fat in Meals Dose Dependent in Children and Adolescents with T1DM on Intensive Insulin Therapy?

O'Connell Susan M. , O'Toole Norma , Cronin Conor , Saat Chen , McElduff Patrick , King Bruce , Smart Carmel E.

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

hrp0089fc12.2 | Diabetes and Insulin 2 | ESPE2018

Apoptosis and Oxidative Stress Markers During the Oral Glucose Tolerance Test (OGTT)

Gil Andrea Paola Rojas , Katsa Maria Efthymia , Tzortzis Nomikos , Ioannidis Anastasios , Kostopoulou Eirini , Spiliotis Bessie E

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

hrp0089fc15.1 | Growth and Syndromes | ESPE2018

The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology

Perchard Reena , Murray Philip G , Highton Georgina L , Whatmore Andrew J , Clayton Peter E

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

hrp0089p2-p187 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism due to a Homozygous ABCC8 Missense Mutation Previously Reported to be Dominant

Galcheva Sonya , Iotova Violeta , Flanagan Sarah E , Ellard Sian , Hattersley Andrew

Background: Congenital hyperinsulinism possesses considerable clinical heterogeneity attributed partly to its diverse genetic causes.Objective: To present a boy with diazoxide unresponsive hyperinsulinaemic hypoglycaemia due to a homozygous recessive ABCC8 missense mutation, previously reported to be dominant acting and being inherited by his unaffected heterozygous parents.Material and results: The boy was a third preterm child of...

hrp0089p1-p214 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

Katharopoulos Efstathios , Sauter Kay-Sara , Pandey Amit V , Fluck Christa E

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...