Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

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.

Overview publication

TitlePrenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
DateMay 1st, 2022
Issue nameEuropean Journal of Endocrinology
Issue numberv186.5 pK17-K24
DOI10.1530/eje-21-0554
AuthorsNowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, 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 HL, Colao A, Cools M, Davies JH, Dörr H, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Léger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtková J, Yeste D, Lajic S & Reisch N
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