Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
Nowotny, Hanna; Neumann, Uta; Tardy-Guidollet, Veronique; Faisal Ahmed, Ahmed; Baronio, Federico; Battelino, Tadej; Bertherat, Jerome; Blankenstein, Oliver; Bonomi, Marco; Bouvattier, Claire; De la Perrière, Aude Brac; Brucker, Sara; Cappa, Marco; Chanson, Philippe; Van der Grinten, Hedi L. Claahsen; Colao, Annamaria; Cools, Martine; Davies, Justin H.; Dorr, Helmut-Gunther; Fenske, Wiebke K.; Ghigo, Ezio; Giordano, Roberta; Gravholt, Claus H.; Huebner, Angela; Husebye, Eystein Sverre; Igbokwe, Rebecca; Juul, Anders; Kiefer, Florian W.; Leger, Juliane; Menassa, Rita; Meyer, Gesine; Neocleous, Vassos; Phylactou, Leonidas A.; Rohayem, Julia; Russo, Gianni; Scaroni, Carla; Touraine, Philippe; Unger, Nicole; Vojtkova, Jarmila; Yeste, Diego; Lajic, Svetlana; Reisch, Nicole
Journal article, Peer reviewed
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Original versionEuropean Journal of Endocrinology (EJE). 2022, 168 (5), K17-K24. 10.1530/EJE-21-0554
Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. 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 centres. 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.