ECE2021 Presented Eposters Presented ePosters 4: Reproductive and Developmental Endocrinology (8 abstracts)
Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe
Hanna F. Nowotny 1 , Oliver Blankenstein 2 , Uta Neumann 2 , S. Faisal Ahmed 3 , Stephanie Allen 4 , Federico Baronio 5 , Tadej Battelino 6 , Jérôme Bertherat 7 , Marco Bonomi 8 , 9 , Aude Brac de la Perrière 10 , Véronique Tardy 11 , Sara Brucker 12 , Marco Cappa 13 , Philippe Chanson 14 , Claire Bouvattier 15 , Annamaria Colao 16 , Martine Cools 17 , Justin Davies 18 , Wiebke K. Fenske 19 , Ezio Ghigo 20 , Claus Højbjerg Gravholt 21 , Angela Hübner 22 , Eystein Sverre Husebye 23 , Anders Juul 24 , Florian W. Kiefer 25 , Juliane Léger 26 , Gesine Meyer 27 , Leonidas A. Phylactou 28 , Julia Rohayem 29 , Gianni Russo 30 , Carla Scaroni 31 , Philippe Touraine 32 , Nicole Unger 33 , Hedi L. Claahsen-van der Grinten 34 , Jarmila Vojtková 35 , Diego Yeste 36 , Helmut Günther Dörr 37 , Svetlana Lajic 38 & Nicole Reisch 1
1Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany; 2Charité Universitätsmedizin Berlin, Berlin, Germany; 3Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; 4West Midlands Regional Genetics Laboratory, Birmingham Women’s Hospital NHS Foundation Trust, Birmingham, UK; 5Pediatric 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; 10Fédération 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; 11Laboratoire 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; 12Department of Women’s Health, University Women’s Hospital, University of Tübingen, Tübingen, Germany; 13Endocrinology Unit, Pediatric University Department, Bambino Gesù Children’s Hospital, 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; 15Service 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; 16Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Universita’ Federico II di Napoli, 80131 Naples, Italy; 17Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium; 18Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK; 19Clinic for Internal Medicine I, University Hospital Bonn, Bonn, Germany; 20Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy; 21Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; 22Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany; 23Department of Clinical Science and KG Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; 24Department of Growth and Reproduction, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark; 25Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria; 26Department of Pediatric Endocrinology and Diabetology and Reference Center for rare Diseases of Growth and Development, AP HP Paris Nord Université de Paris, CHU Robert-Debre, Paris, France; 27Department of Internal Medicine 1, Division of Endocrinology, Goethe University Frankfurt Faculty 16 Medicine, Frankfurt, Germany; 28Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 29Center of Reproductive Medicine and Andrology, Clinical and Operative Andrology, University of Münster, Münster, Germany; 30Department of Pediatrics, Endocrine Unit, Scientific Institute San Raffaele, Milan, Italy; 31Dipartimento di Medicina, U.O.C. Endocrinologia, Università di Padova, Padova, Italy; 32Department of Endocrinology and Reproductive Medicine, Center for Rare Endocrine and Gynecological Disorders, Sorbonne Université, Assistance Publique Hopitaux de Paris, Paris, France; 33Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, Essen, Germany; 34Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 35Department of Pediatrics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia; 36Hospital Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain; 37Pediatric Endocrinology, Department of Pediatrics, Universitätsklinikum Erlangen, Erlangen, Germany; 38Department of Women’s and Children’s Health, Karolinska Institutet/Karolinska University Hospital, Pediatric Endocrinology Unit (QB83), SE 171 76 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 longterm 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 21hydroxylase 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 20 µg/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 sexdetermining region Y from maternal blood (SRYtyping) or amniocentesis and CYP21A2 genotyping. Noninvasive 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 longterm followup 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 evidencebased guidelines on prenatal diagnostics, treatment and followup of pregnancies at risk for CAH. Evaluation of outcome and longterm health of already treated cases across Europe is highly recommended.
Volume 73
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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