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.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Ghigo, Ezio;Giordano, Roberta;
2022-01-01

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.
2022
186
5
17
24
Dexamethasone; Europe; Female; Humans; Pregnancy; Prospective Studies; Adrenal Hyperplasia, Congenital
Nowotny, Hanna; Neumann, Uta; Tardy-Guidollet, Véronique; Ahmed, S Faisal; Baronio, Federico; Battelino, Tadej; Bertherat, Jérôme; Blankenstein, Oliver; Bonomi, Marco; Bouvattier, Claire; Brac de la Perrière, Aude; Brucker, Sara; Cappa, Marco; Chanson, Philippe; Claahsen-van der Grinten, Hedi L; Colao, Annamaria; Cools, Martine; Davies, Justin H; Dörr, Helmut-Günther; Fenske, Wiebke K; Ghigo, Ezio; Giordano, Roberta; Gravholt, Claus H; Huebner, Angela; Husebye, Eystein Sverre; Igbokwe, Rebecca; Juul, Anders; Kiefer, Florian W; Léger, Juliane; Menassa, Rita; Meyer, Gesine; Neocleous, Vassos; Phylactou, Leonidas A; Rohayem, Julia; Russo, Gianni; Scaroni, Carla; Touraine, Philippe; Unger, Nicole; Vojtková, Jarmila; Yeste, Diego; Lajic, Svetlana; Reisch, Nicole
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1876464
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