Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

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  • Hanna Nowotny
  • Uta Neumann
  • Veronique Tardy-Guidollet
  • S. Faisal Ahmed
  • Federico Baronio
  • Tadej Battelino
  • Jerome Bertherat
  • Oliver Blankenstein
  • Marco Bonomi
  • Claire Bouvattier
  • Aude Brac de la Perrière
  • Sara Brucker
  • Marco Cappa
  • Philippe Chanson
  • Hedi L. Claahsen Van der Grinten
  • Annamaria Colao
  • Martine Cools
  • Justin H. Davies
  • Helmut-Günther Dörr
  • Wiebke K Fenske
  • Ezio Ghigo
  • Roberta Giordano
  • Claus H. Gravholt
  • Angela Huebner
  • Eystein Sverre Husebye
  • Rebecca Igbokwe
  • Florian W. Kiefer
  • Juliane Léger
  • Rita Menassa
  • Gesine Meyer
  • Vassos Neocleous
  • Leonidas A. Phylactou
  • Julia Rohayem
  • Gianni Russo
  • Carla Scaroni
  • Philippe Touraine
  • Nicole Unger
  • Jarmila Vojtkova
  • Diego Yeste
  • Svetlana Lajic
  • Nicole Reisch

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defic iency. 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 ce ntres. 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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Endocrinology
Vol/bind186
Udgave nummer5
Sider (fra-til)K17-K24
ISSN0804-4643
DOI
StatusUdgivet - 2022

Bibliografisk note

Funding Information:
This work was supported by the European Reference Network on Rare Endocrine Conditions. We acknowledge the entire French working group on PDex for fruitful discussions and comments on this study and manuscript: Dr Véronique Tardy-Guidollet, Dr Daniela Gorduza, Dr Rita Menassa, Dr Claire-Lise Gay, Dr Patricia Bretones, Dr Aude Brac de la Perrière, Dr Claire Bouvattier, Dr Lise Duranteau, Dr Catherine Pienkowski, Pr Anne Bachelot and Dr Audrey Cartault.

Funding Information:
This work was supported by the Deutsche Forschungsgemeinschaft (Heisenberg Professorship, 325768017 to N R and 314061271-TRR205 to N R and A H), the European Commission for funding EndoERN CHAFEA FPA grant no. 739527, the Eva Luise und Horst Köhler Stiftung & Else Kröner-Fresenius-Stiftung (2019_KollegSE.03 to H N) and the Stockholm County Council (Senior clinical research fellowship dnr RS 2019-1140 to S L), Stiftelsen Frimurare Barnhuset i Stockholm and Lisa and Johan Grönbergs Stiftelse.

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