Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany.
Centre for Chronic Sick Children, Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554.
To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
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.
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.
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.
评估欧洲目前在对先天性肾上腺皮质增生症（CAH）因 21-羟化酶缺乏症进行产前地塞米松（Pdex）治疗方面的医疗实践。
设计并分发了一份问卷，其中包括 17 个问题，收集定量和定性数据。来自欧洲 14 个国家的 36 个医疗中心做出了回应，其中 30 个中心是欧洲罕见内分泌疾病网络（EndoERN）的参考中心。
目前，36%的调查中心提供 Pdex 治疗。治疗由不同的专业人员启动，即儿科医生、内分泌学家、妇科医生或遗传学家。至于 Pdex 的起始点，23%的中心表示在受孕后 4-5 周（wpc）开始治疗，31%的中心在 6 wpc 开始治疗，46%的中心在怀孕确诊后最早在 7 wpc 之前开始治疗。使用的剂量为 20μg/kg/天。剂量在各中心之间的分布从每日一次到每日三次不等。在 72%的做出回应的中心对接受治疗的病例进行了产前诊断。每个国家/年治疗的病例数在 0.5 到 8.25 之间不等。只有 46%使用 Pdex 治疗的中心有用于长期随访的登记处。瑞典和法国仅提供国家登记处。
本研究揭示了欧洲各地在使用 Pdex 治疗方面存在高度的国际差异和不一致性。它强调了开展欧洲合作倡议的重要性，以进行联合国际前瞻性试验，为高危 CAH 妊娠的产前诊断、治疗和随访制定基于证据的指南。
