Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Nowotny, H. et al. (2022) Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. European Journal of Endocrinology, 186(5), K17-K24. (doi: 10.1530/eje-21-0554) (PMID:35235536)

Abstract

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of 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 i.e. paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23 % stated to initiate therapy at 4 to 5 weeks post conception (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/d is used. Dose distribution among the centres varies between 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 to 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 on 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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Ahmed, Professor Syed Faisal
• Authors: Nowotny, H., Neumann, U., Tardy-Guidollet, V., Ahmed, S. F., Baronio, F., Battelino, T., Bertherat, J., Blankenstein, O., Bonomi, M., Bouvattier, C., Brac de la Perrière, A., Brucker, S., Cappa, M., Chanson, P., Claahsen-van der Grinten, H. L., Colao, A., Cools, M., Davies, J. H., Doerr, H.-G., Fenske, W. K., Ghigo, E., Giordano, R., Gravholt, C. H., Huebner, A., Husebye, E. S., Igbokwe, R., Juul, A., Kiefer, F. W., Leger, J., Menassa, R., Meyer, G., Neocleous, V., Phylactou, L. A., Rohayem, J., Russo, G., Scaroni, C., Touraine, P., Unger, N., Vojtkova, J., Yeste, D., Lajic, S., and Reisch, N.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: European Journal of Endocrinology
• Publisher: Bioscientifica
• ISSN: 0804-4643
• ISSN (Online): 1479-683X
• Published Online: 01 March 2022
• Copyright Holders: Copyright © 2022 The Authors
• First Published: First published in European Journal of Endocrinology 186(5): K17-K24
• Publisher Policy: Reproduced in accordance with the publisher copyright policy