Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Nowotny H, Neumann U, Tardy-Guidollet V, Faisal Ahmed S, Baronio F, Battelino T, Bertherat J, Blankenstein O, Bonomi M, Bouvattier C, De la Perrière AB, Brucker S, Cappa M, Chanson P, Van der Grinten HL, Colao A, Cools M, Davies JH, Dörr HG, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Leger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtkova J, Yeste D, Lajic S, Reisch N (2022)

Publication Type: Journal article

Publication year: 2022

Journal

Book Volume: 168

Pages Range: K17-K24

Journal Issue: 5

DOI: 10.1530/EJE-21-0554

Abstract

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defic iency. Design and methods: A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN. Results: Pdex treatment is currently provided by 36% of the surveyed ce ntres. The treatment is initiated by different specialties, that is paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23% stated to initiate therapy at 4-5 weeks postconception (wpc), 31% at 6 wpc and 46 % as early as pregnancy is confirmed and before 7 wpc at the latest. A dose of 20 μg/kg/day is used. Dose distribution among the centres varies from once to thrice daily. Prenatal diagnostics for treated cases are conducted in 72% of the responding centres. Cases treated per country and year vary between 0.5 and 8.25. Registries for long-term follow-up are only available at 46% of the centres that are using Pdex treatment. National registries are only available in Sweden and France. Conclusions: This study reveals a high international variability and discrepancy in the use of Pdex treatment 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.

Authors with CRIS profile

Involved external institutions

Ljubljana University Medical Centre (Ljubljana UMC) / Univerzitetni klinični center Ljubljana Slovenia (SI) Università degli Studi di Napoli Federico II Italy (IT) Universitätsklinikum Tübingen Germany (DE) Klinikum der Universität München Germany (DE) Bicêtre Hospital France (FR) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) Hospices Civils de Lyon (CHU) France (FR) École Polytechnique - Université Paris-Saclay France (FR) Ospedale Pediatrico Bambino Gesu Italy (IT) Charité - Universitätsmedizin Berlin Germany (DE) Università degli studi di Milano Italy (IT) Karolinska University Hospital / Karolinska Universitetssjukhuset Sweden (SE) Goethe-Universität Frankfurt am Main Germany (DE) Aarhus University Hospital / Aarhus Universitetshospital Denmark (DK) Universitätsklinikum Essen Germany (DE) University of Padua / Universita degli Studi di Padova Italy (IT) University Hospital Ghent Belgium (BE) Assistance Publique-Hôpitaux de Paris (AP-HP) France (FR) Ospedaliero Universitaria di Bologna Policlinico S.Orsola-Malpighi Italy (IT) Medizinische Universität Wien Austria (AT) University of Glasgow United Kingdom (GB) Sorbonne Université France (FR) Comenius University Bratislava Slovakia (SK) Vall d'Hebron University Hospital / Hospital Universitari Vall d'Hebron Spain (ES) Cyprus Institute of Neurology and Genetics Cyprus (CY) University of Paris 13 - Paris-Nord / Université Paris XIII Paris-Nord France (FR) Ospedale San Raffaele (früher: Centro San Raffaele del Monte Tabor Foundation) Italy (IT) Université Claude Bernard Lyon 1 (UCB) France (FR) Birmingham Women's and Children's NHS Foundation Trust United Kingdom (GB) University of Turin / Università degli Studi di Torino (UNITO) Italy (IT) Universitätsklinikum Carl Gustav Carus Dresden Germany (DE) Rigshospitalet Denmark (DK) Universitätsklinikum Bonn Germany (DE) University of Bergen / Universitetet i Bergen Norway (NO) University Hospital Southampton NHS United Kingdom (GB) Westfälische Wilhelms-Universität (WWU) Münster Germany (DE)

How to cite

APA:

Nowotny, H., Neumann, U., Tardy-Guidollet, V., Faisal Ahmed, S., Baronio, F., Battelino, T.,... Reisch, N. (2022). Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. European Journal of Endocrinology, 168(5), K17-K24. https://dx.doi.org/10.1530/EJE-21-0554

MLA:

Nowotny, Hanna, et al. "Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe." European Journal of Endocrinology 168.5 (2022): K17-K24.

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