ESPE2021 ePoster Category 1 Sex Endocrinology and Gonads B (10 abstracts)
Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe
Hanna F. Nowotny 1 , Uta Neumann 2 , Véronique Tardy-Guidollet 3 , S. Faisal Ahmed 4 , Federico Baronio 5 , Tadej Battelino 6 , Jérôme Bertherat 7 , Oliver Blankenstein 2 , Marco Bonomi 8,9 , Claire Bouvattier 10 , Aude Brac de la Perrière 11 , Sara Brucker 12 , Marco Cappa 13 , Philippe Chanson 14 , Hedi L. Claahsen van der Grinten 15 , Annamaria Colao 16 , Martine Cools 17 , Justin H. Davies 18 , Helmut Günther Dörr 19 , Wiebke K. Fenske 20 , Ezio Ghigo 21 , Claus H. Gravholt 22 , Angela Huebner 23 , Eystein Sverre Husebye 24 , Rebecca Igbokwe 25 , Anders Juul 26,27 , Florian W. Kiefer 28 , Juliane Léger 29 , Rita Menassa 3 , Gesine Meyer 30 , Vassos Neocleous 31,32 , Leonidas A Phylactou 31,32 , Julia Rohayem 33 , Gianni Russo 34 , Carla Scaroni 35 , Philippe Touraine 36 , Nicole Unger 37 , Jarmila Vojtková 38 , Diego Yeste 39,40,41 , Svetlana Lajic 42 & Nicole Reisch 1
1Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany; 2Centre for chronic sick children, Department of paediatric endocrinology and diabetology, Charité Universitätsmedizin Berlin, Berlin, Germany; 3Laboratoire de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Centre National de Référence « Développement Génital: du fœtus à l’adulte DEV GEN » Université Lyon I, Lyon, France; 4Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom; 5Paediatric Endocrinology Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Bologna, Italy; 6University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia; 7Service d’Endocinologie et Maladies Métaboliques, Hôpitaux Universitaires Paris Centre, Assistance Publique – Hôpitaux de Paris, Paris, France; 8Dept. of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; 9Dept. of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, IRCSS Istituto Auxologico Italiano, Milan, Italy; 10Service d’Endocrinologie de l’enfant, GHU Paris-Sud, Hôpital de Bicêtre, Paris, France; Centre National de Référence « Développement Génital: du fœtus à l’adulte DEV GEN », Paris, France; 11Fédération d’endocrinologie, de diabétologie et des maladies métaboliques, Hospices Civils des Lyon, Centre National de Référence « Développement Génital: du fœtus à l’adulte DEV GEN », Lyon, France; 12Department of Women’s Health, University Women’s Hospital, University of Tübingen, Tübingen, Germany; 13Endocrinology Unit, Paediatric University Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 14Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Service d’Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de Hypophyse, Hôpital Bicêtre, Le Kremlin-Bicêtre, France; 15Department of Paediatric Endocrinology, Amalia Children’s Hospital, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 16Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Universita’ Federico II di Napoli, Naples, Italy; 17Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium; 18Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom; 19Paediatric Endocrinology, Department of Paediatrics, Universitätsklinikum Erlangen, Erlangen, Germany; 20Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany; 21Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy; 22Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; 23Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany; 24Department of Clinical Science and KG Jebsen Centre for Autoimmune Disorders, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; 25West Midlands Regional Genetics Laboratory, Birmingham Women’s Hospital NHS Foundation Trust, Birmingham, United Kingdom; 26Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark; 27Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; 28Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria; 29Department of Paediatric Endocrinology and Diabetology and Reference Centre for rare Diseases of Growth and Development, AP HP Paris Nord Université de Paris, CHU Robert-Debre, Paris, France; 30Department of Internal Medicine 1, Division of Endocrinology, Goethe University Frankfurt Faculty 16 Medicine, Frankfurt am Main, Germany; 31Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 32Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 33Centre of Reproductive Medicine and Andrology, Clinical and Operative Andrology, University of Münster, Münster, Germany; 34Department of Paediatrics, Endocrine Unit, Scientific Institute San Raffaele, Milan, Italy; 35Dipartimento di Medicina, U.O.C. Endocrinologia, Università di Padova, Padova, Italy; 36Department of Endocrinology and Reproductive Medicine, Centre for Rare Endocrine and Gynaecological Disorders, Sorbonne Université, Assistance Publique Hopitaux de Paris, Paris, France; 37Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, Essen, Germany; 38Department of Paediatrics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia; 39Paediatric Endocrinology Service, Hospital Universitari Vall d’Hebron, Barcelona, Spain; 40Autonomous University of Barcelona, Bellaterra, Spain; 41CIBERER, ISCIII, Madrid, Spain; 42Department of Women’s and Children’s Health, Karolinska Institutet/Karolinska University Hospital, Paediatric Endocrinology Unit (QB83), Stockholm, Sweden
Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase deficiency (21OHD) in Europe.
Methods: A questionnaire was designed and distributed using Microsoft Forms, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 28 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN.
Results: 36% (13/36) of the surveyed centres are currently providing Pdex. The treatment is initiated by different specialties i.e. pediatricians, obstetricians/gynecologists or geneticists. Regarding the starting point of Pdex, 15% of centres stated to initiate therapy as early as pregnancy is confirmed, 23% at 4 to 5 wpc, 31% at 6 wpc, and the rest at 7 wpc at the latest. A dose of 20µg/kg/d is used and dose distribution among the centres varies between once to thrice daily. Prenatal diagnostics are conducted at 72% (26/36) of centres, which however mainly includes chorionic villous sampling ± genotyping of the sex determining region Y from maternal blood (SRY typing) or amniocentesis and CYP21A2 genotyping. Non invasive genetic testing from maternal blood is currently offered by one centre. The total number of pregnant women who received Pdex during the first trimester of pregnancy varied from 3 to 44 per centre (median = 10, total number of treated cases n = 197), while 0 to 13 cases (median = 5, total number of treated cases n = 70) were treated for the entire gestational period. A mean of 1.6 cases are treated at each centre per year. Registries for long term follow up are only available at 46% of the centres that are using Pdex. National registries are only available in 2 of the 14 corresponding countries.
Conclusion: This study reveals a high international variability and discrepancy on the use of Pdex across Europe. It highlights the importance of a European cooperation initiative for a joint international prospective trial to establish evidence based guidelines on prenatal diagnostics, treatment and follow-up of pregnancies at risk for CAH. Evaluation of outcome and long term health of already treated cases across Europe is highly recommended.
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