Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Nowotny, Hanna; Neumann, Uta; Tardy-Guidollet, Veronique; Ahmed, S. Faisal; Baronio, Federico; Battelino, Tadej; Bertherat, Jerome; Blankenstein, Oliver; Bonomi, Marco; Bouvattier, Claire; de la Perriere, Aude Brac; Brucker, Sara; Cappa, Marco; Chanson, Philippe; Claahsen-van der Grinten, Hedi L.; 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 und Reisch, Nicole (2022): Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. In: European Journal of Endocrinology, Bd. 186, Nr. 5: K17-K24

Abstract

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 pg/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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0804-4643
• Sprache: Englisch