Searchable abstracts of presentations at key conferences in endocrinology

ea0078p4 | Adrenal | BSPED2021

Current management of acute adrenal insufficiency related adverse events in children- results of an international survey of specialist centres

Ali Salma , Bryce Jillian , Krone Nils , Claahsen-van der Grinten Hedi , Faisal Ahmed S.

Background: There is wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Active users of the International Congenital Adrenal Hyperplasia &...

ea0081ep154 | Calcium and Bone | ECE2022

Clinical outcomes of COVID-19 infection in rare bone and mineral disorders

Zurita Ana Luisa Priego , Bryce Jillian , Brandi Maria-Luisa , Glasberg Simona , Pereira Alberto M , Sangiorgi Luca , Schalin-Jantti Camilla , van den Akker Erica , Ahmed Faisal , Appelman-Dijkstra Natasha

Background The European Registries for Rare Endocrine Conditions and the European Registries for Rare Bone and Mineral Conditions were created in collaboration with the European Reference Networks for Rare Endocrine and Bone Disorders (Endo-ERN and ERN BOND). Following the onset of the COVID-19 pandemic in 2020, the registries, together with the ESE RD Committee, have collected the occurrence of confirmed and suspected cases of COVID-19 in patients with rare endocrine and bone...

ea0073aep116 | Calcium and Bone | ECE2021

European Registries for Rare Endocrine Conditions (EuRRECa): The use of an e-reporting tool for registering calcium and phosphate conditions

Ana Luisa Priego Zurita , Bryce Jillian , Ali Salma Rashid , Diana-Alexandra Ertl , Grasemann Corinna , Haeusler Gabriele , Rejnmark Lars , Ahmed Faisal , Natasha-Appelman Dijkstra , Agnès Linglart

IntroductionThe European Registries for Rare Endocrine Conditions (EuRRECa) project was launched in February 2018 and aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is closely linked to the European Reference Networks on Rare Endocrine Conditions (Endo-ERN) and Rare Bone Diseases (ERN BOND) with its registry EuRR-Bone....

ea0081p259 | Adrenal and Cardiovascular Endocrinology | ECE2022

Outcome of COVID-19 infections in patients with adrenal insufficiency

Nowotny Hanna , Bryce Jillian , Giordano Roberta , Baronio Federico , Chifu Irina , Cools Martine , van den Akker Erica L.T. , Falhammar Henrik , Appelman-Dijkstra Natasha , Persani Luca , Beccuti Guglielmo , Glasberg Simona , Pereira Alberto M , Sverre Husebye Eystein , Hahner Stefanie , Ahmed Faisal , Reisch Nicole

Background: Only few cases of patients with adrenal disorders affected by coronavirus disease 2019 (COVID-19) have been reported so far. In this study, clinical outcome data of patients with adrenal disorders and COVID-19 infection has been collected by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project.Methods: This questionnaire included 32 questions on collecting quantitative and qua...

ea0041ep14 | Adrenal cortex (to include Cushing's) | ECE2016

Adrenal crisis and sick day episodes among CAH patients: preliminary report based on international CAH (I-CAH) registry

Karunasena Nayananjani , Daniel Eleni , Bryce Jillian , Jiang Jipu , Faisal Ahmed S , Guran Tulay , Mendonca Berenice B , Bachega Tania A , Blankenstein Oliver , Koehler Birgit , Neumann Uta , Acerini Carlo , Krone Nils , Bonfig Walter , Mohnike Klaus , Elsedfy Heba , Ross Richard

Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

ea0081oc12.1 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the use of a core registry for collecting common data elements and clinician and patient reported outcomes

Priego Zurita Ana Luisa , Ali Salma Rashid , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arelene , Sumnik Zdenek , Taruscio Domenica , Visser Edward , Appelman-Dijkstra Natasha , Ahmed Faisal

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2019 and December 2021.<p class...

ea0081p3 | Adrenal and Cardiovascular Endocrinology | ECE2022

Long-term cardiometabolic morbidity in young adults wWith classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Righi Beatrice , Rashid Ali Salma , Bryce Jillian , Tolinson Jeremy , Bonfig Walter , Baronio Federico , Costa Eduardo C , Guaragna-Filho Guilherme , T'Sjoen Guy , Cools Martine , Markosyan Renata , A S S Bachega Tania , C Miranda Mirela , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Daniel Eleni , Auchus Richard , Ross Richard , Ahmed Faisal

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hydroxylase CAH and to assess the pre...

ea0081p400 | Pituitary and Neuroendocrinology | ECE2022

European Registries for Rare Endocrine Conditions (EuRRECa): results from the core registry on hypothalamic and pituitary conditions

Luisa Priego Zurita Ana , Appelman-Dijkstra Natasha , Biermasz Nienke , Bryce Jillian , Burman Pia , Castano Luis , Dattani Mehul , Dekkers Olaf M. , Fibbi Benedetta , Gan Hoong-Wei , Gaztambide Sonia , Haeusler Gabriele , Haufler Florentina , Katugampola Harshini , Helene Lasolle , L Muller Hermann , Raverot Gerald , Rica Itxaso , van Beuzekom Charlotte , Sumnik Zdenek , de Vries Friso , Zamanipoor Najafabadi Amir , Ahmed Faisal , M Pereira Alberto

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community. The Core Registry, one of its platforms, enables the collection of longitudinal patient and clinician reported outcomes. A module collecting aspects of the ...

ea0081p180 | Reproductive and Developmental Endocrinology | ECE2022

European Registries for Rare Endocrine Conditions (EuRRECa): results from the e-Reporting platform for rare conditions (e-REC)

Rashid Ali Salma , Bryce Jillian , Luisa Priego Zurita Ana , Cools Martine , Danne Thomas , Katugampola Harshini , Dekkers Olaf M. , Hiort Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , M Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arelene , Sumnik Zdenek , Taruscio Domenica , Visser Edward , Appelman-Dijkstra Natasha , Ahmed Faisal

Background: EuRRECa (eurreca.net) is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.<p...

ea0031p148 | Growth and development | SFEBES2013

The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry

Cox Kathryn , Bryce Jillian , Jiang Jipu , Rodie Martina , Sinnott Richard , Alkhawari Mona , Arlt Wiebke , Audi Laura , Balsamo Antonio , Bertelloni Silvano , Cools Martine , Darendeliler Feyza , Drop Stenvert , Ellaithi Mona , Hiort Olaf , Hughes Ieuan , Lisa Lidka , Morel Yves , Soder Olle , Ahmed S Faisal

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...