BSPED2025 Poster Presentations Adrenal 1 (10 abstracts)
Establishing the current practice of the use of genetic testing for patients with congenital adrenal hyperplasia (CAH)
Irina A Bacila 1,2 , Rebecca Welch 1 , Chamila Balagamage 3 , Jillian Bryce 4 , Salma R Ali 4,5 , Malika Alimussina 4 , Minglu Chen 4 , Guillermo Francisco Alonso 6 , Ursula Ambroziak 7 , Ved Bhushan Arya 8 , Navoda Atapattu 9 , Tania A. S. S. Bachega 10 , Federico Baronio 11 , Niels H Birkebaek 12 , Małgorzata Bobrowicz 7 , Walter Bonfig 13,14 , Ariadna Campos 15 , Martine Cools 16 , Justin H Davies 17,18 , Luisa De Sanctis 19 , Gabriella Gazdagh 20 , Alina German 21 , Heidi Claahsen – van der Grinten 22,23 , Nihal Hatipoglu 24 , Heba Elsedfy 25 , Olcay Evliyaoglu 26 , Maria Felicia Faienza 27 , Simona Fica 28 , Gabriela Finkielstain 29 , Christa Flüeck 30 , Evelien Gevers 31 , Evgenia Globa 32 , Sabine Hannema 33 , Violeta Iotova 34 , Dominika Janus 35 , Daniel Konrad 36 , Zacharoula Karabouta 37 , Sofia Leka-Emiri 38 , Ruth Krone 3 , Nina Lenherr-Taube 36 , Giovanni Luppino 39 , Otilia Marginean 40 , Susan McGeoch 41 , Harriet Miles 42 , Anna Nordenstrom 43 , Uta Neumann 44 , Marek Niedziela 45 , Susan O’Connell 46 , Rita Ortolano 11 , Katja Palm 47 , Sukran Poyrazoglu 48 , Ursina Probst-Scheidegger 49 , Ana Vieites 50 , Mariacarolina Salerno 51 , Valerie Schwitzgebel 52 , Anat Segev-Becker 53 , Sumudu N Seneviratne 54 , Mars Skae 55 , Ajay Thankamony 56 , Ahmet Ucar 57 , Agustini Utari 58 , Gilvydas Verkauskas 59 , Malgorzata Wasniewska 39 , Iroro Yarhere 60 , S Faisal Ahmed 4,5 & Nils P Krone 1,2
1The University of Sheffield, Sheffield, United Kingdom; 2Sheffield Children’s Hospital, Sheffield, United Kingdom; 3Birmingham Women’s & Children’s Hospital, Birmingham, United Kingdom; 4Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom; 5University of Glasgow, Glasgow, United Kingdom; 6Hospital Italiano, Buenos Aires, Argentina; 7Medical University of Warsaw, Warsaw, Poland; 8Kings’ College Hospitals NHS Trust, London, United Kingdom; 9Lady Ridgeway Hospital Colombo, Colombo, Sri Lanka; 10School of Medicine, São Paulo University, Sao Paolo, Brazil; 11Endo-ERN Center for Rare Endocrine Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 12Aarhus University Hospital, Aarhus, Denmark; 13Technical University Munich, Munich, Germany; 14Klinikum Wels-Grieskirchen, Wels, Austria; 15Vall d’Hebron University Hospital, Barcelona, Spain; 16Ghent University and Ghent University Hospital, Ghent, Belgium; 17University Hospital Southampton, Southampton, United Kingdom; 18University of Southampton, Southampton, United Kingdom; 19University of Turin, Turin, Italy; 20Southampton General Hospital, Southampton, United Kingdom; 21Haemek Medical Center, Afula, Israel; 22Radboud University Medical Centre, Nijmegen, Netherlands; 23Amalia Children’s Hospital, Nijmegen, Netherlands; 24Erciyes University Faculty of Medicine, Kayseri, Turkey; 25Ain Shams University, Cairo, Egypt; 26Cerrahpaşa Faculty of Medicine, Istanbul, Turkey; 27University of Bari "A. Moro", Bari, Italy; 28Elias Hospital Bucharest, Bucharest, Romania; 29Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Buenos Aires, Argentina; 30Medizinische Universitätskinderklink, Bern, Switzerland; 31William Harvey Research Institute, Queen Mary University London, London, United Kingdom; 32Ukrainian Scientific and Practical Center of Endocrine Surgery, Kyiv, Ukraine; 33Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, Netherlands; 34Medical University of Varna, Varna, Bulgaria; 35Jagiellonian University Medical College, University Children Hospital, Krakow, Poland; 36University Children’s Hospital, Zurich, Swaziland; 37St George’s University Hospital, London, United Kingdom; 38"P.& A. KYRIAKOU" Children’s Hospital, DIU Paris VI University, Athens, Greece; 39University of Messina, Messina, Italy; 40Victor Babes University of Medicine and Pharmacy of Timisoara, Timisoara, Romania; 41Aberdeen Royal Infirmary, Aberdeen, United Kingdom; 42Royal Hospital for Sick Children, Edinburgh, United Kingdom; 43Karolinska Institutet, Stockholm, Sweden; 44Institute for Experimental Pediatric Endocrinology and Center for Chronically Sick Children, Charite - Universitätsmedizin, Berlin, Germany; 45Institute of Pediatrics, Karol Jonscher’s Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland; 46Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland; 47Otto-von-Guericke University, Magdeburg, Germany; 48Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey; 49Kantonsspital Winterthur, Winterthur, Switzerland; 50Centro de Investigaciones Endocirnológicas “Dr Cesar Bergadá” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; 51University of Naples Federico II, Naples, Italy; 52Geneva University Hospitals, Geneva, Switzerland; 53Dana Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; 54Colombo University, Colombo, Sri Lanka; 55Royal Manchester Children’s Hospital, Manchester, United Kingdom; 56University of Cambridge, Cambridge, United Kingdom; 57Sisli Hamidiye Etfal Health Practices and Research Centre, Division of Pediatric Endocrinology, Istanbul, Turkey; 58Faculty of Medicine, Diponegoro University, Semarang, Indonesia; 59Faculty of Medicine, Vilnius University, Vilnius, Lithuania; 60University of Port Harcourt Teaching Hospital, Port Harcourt, Nigeria
Background: There are no clear national or international guidelines for genetic testing for diagnosing 21 Hydroxylase Deficiency (21OHD) CAH (CAH). This study aimed to assess the current international practice of genetic testing in CAH.
Methods: We collected and analysed data on patients diagnosed with 21OHD CAH, using the SDMregistries core module data, including date of birth, first presentation and diagnosis, and the investigations on which the diagnosis was based. We also distributed questionnaires to the registry centre leads, exploring site- and clinician- specific approach towards the diagnosis of 21OHD.
Results: There were 437 patients (279 females) from 18 countries (53 centres) included in the study. The proportion of patients diagnosed with 21OHD that had genetic tests varied among countries and centres between 0 and 100%, with a median of 82(IQR 43-99)%. Genetic testing was more frequent in females compared to males (76% vs 56%, Chi square P < 0.01). The time elapsed between presentation and diagnosis was not influenced by sex or the use of genetic testing, with a median of 4.3 (IQR 1.2-53.6) weeks. The survey was answered by 64 clinicians from 26 countries. While 22% indicated that they used genetic testing in all patients suspected of 21OHD, the majority (62%) use it only if hormonal tests are abnormal or inconclusive. Direct sequencing was used by 64% centres, multiplex ligation-dependent probe by 52%, and targeted mutation analysis by 16%. The turnaround time for genetic results varied between 1 and 52 weeks. In 62.5% centres, genetic testing was funded via the public health system, other sources being health insurance, research funding or self-funding. The majority (98%) of clinicians indicated that the main benefit of genetic testing is supporting family counselling, although 28% considered it was also helpful in guiding hormone replacement.
Conclusion: There is wide variability in the use of genetic testing for the diagnosis of 21OHD across countries and centres. Genetic testing is primarily used to clarify the diagnosis when hormonal tests are inconclusive and to support family counselling. Our data does not indicate that genetic testing influences significantly the time of the diagnosis or of treatment initiation.
Volume 111
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Endocrine Abstracts
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