hrp0082wg3.6 | DSD | ESPE2014

I-DSD and I-CAH Registry Update

Bryce Jillian

Background: Effective clinical care and research in disorders of sex development (DSD), as well as assessment of long-term outcome of these rare conditions, requires multicentre collaboration across national boundaries and across multiple clinical and research disciplines. This registry is currently funded by the UK MRC as the International DSD Registry (www.i-dsd.org) which adheres to the highest standards of data governance and security. Fr...

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...

hrp0094p1-110 | Adrenal B | ESPE2021

Current Management Of Acute Adrenal Insufficiency Related Adverse Events In Children- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , Krone Nils P. , Grinten eHedi L. Claahsen-van der , Ahmed S. Faisal ,

Background: >There is a 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: Three groups of ...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0084p1-61 | DSD | ESPE2015

Current Models of Practice & Professional Development of Clinicians in DSD Centres – Results from an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...

hrp0084p2-307 | DSD | ESPE2015

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

hrp0094p1-3 | Adrenal A | ESPE2021

Growth-Related Characteristics of Patients <18 Years of Age with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (21OHD): Real-World Evidence from the I-CAH Registry

Farrar Mallory , He Wei , Ali Salma R , Bryce Jillian , Lawrence Neil , Baronio Federico , Claahsen-van der Grinten Hedi L. , Bonfig Walter , Krone Nils , Yonan Chuck , Ahmed S. Faisal ,

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

hrp0094p1-72 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project

Plachy Lukas , Bryce Jillian , Mohnike Klaus , Gan Hoong-Wei , Shaikh Guftar , Rozenkova Klara , Mozzillo Enza , Maltoni Giulio , Navardauskaite Ruta , Casteels Kristina , Stuart Annemarie Verrijn , Dastamani Antonia , Empting Susann , Verkauskiene Rasa , Ahmed S. Faisal , Sumnik Zdenek ,

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

hrp0094p1-114 | Fat, Metabolism and Obesity B | ESPE2021

EuRRECa Registry Genetic Obesity Survey Results

Shaikh Guftar , Akker Erica van den , Bryce Jillian , Ali Salma , Amin Rakesh , Cools Martine , Dattani Mehul , Grugni Graziano , Khairi Ranna El , Persani Luca , Peters Catherine , Rossum Elisabeth van , Waele Kathleen De , Gan Hoong-Wei , Ahmed Faisal ,

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

hrp0095p1-136 | Multisystem Endocrine Disorders | ESPE2022

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

Ali Salma , Bryce Jillian , Hiort Olaf , Verrijn Stuart Annemarie , Cools Martine , Luczay Andrea , De Sanctis Luisa , Baronio Federico , Navardauskaite Ruta , Claahsen-van der Grinten Hedi , Yeste Diego , Gan Hoong-Wei , Persani Luca , Capalbo Donatello , Nordenstrom Anna , Faisal Ahmed S.

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...