Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe-Reference-Cited by-同舟云学术

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Published:2022-05-01 Issue:5 Volume:186 Page:K17-K24
ISSN:0804-4643
Container-title:European Journal of Endocrinology
language:
Short-container-title:

Author:

Nowotny Hanna¹,Neumann Uta²^ORCID,Tardy-Guidollet Véronique³,Ahmed S Faisal⁴^ORCID,Baronio Federico⁵,Battelino Tadej⁶,Bertherat Jérôme⁷,Blankenstein Oliver²,Bonomi Marco⁸⁹^ORCID,Bouvattier Claire¹⁰¹¹,Brac de la Perrière Aude¹²,Brucker Sara¹³,Cappa Marco¹⁴,Chanson Philippe¹⁵^ORCID,Claahsen-van der Grinten Hedi L¹⁶^ORCID,Colao Annamaria¹⁷,Cools Martine¹⁸,Davies Justin H¹⁹,Dörr Helmut-Günther²⁰,Fenske Wiebke K²¹,Ghigo Ezio²²,Giordano Roberta²²,Gravholt Claus H²³,Huebner Angela²⁴,Husebye Eystein Sverre²⁵²⁶,Igbokwe Rebecca²⁷,Juul Anders²⁸²⁹,Kiefer Florian W³⁰,Léger Juliane³¹,Menassa Rita³,Meyer Gesine³²,Neocleous Vassos³³³⁴,Phylactou Leonidas A³³³⁴,Rohayem Julia³⁵^ORCID,Russo Gianni³⁶,Scaroni Carla³⁷,Touraine Philippe³⁸^ORCID,Unger Nicole³⁹,Vojtková Jarmila⁴⁰,Yeste Diego⁴¹⁴²⁴³,Lajic Svetlana⁴⁴,Reisch Nicole¹^ORCID

Affiliation:

1. Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany

2. Centre for Chronic Sick Children, Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Berlin, Germany

3. Laboratoire de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Centre National de Référence ‘Développement Génital: du fœtus à l’adulte DEV-GEN’ Université Lyon I, Lyon, France

4. Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

5. Paediatric Endocrinology Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Bologna, Italy

6. Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, University Children’s Hospital, Ljubljana, Slovenia

7. Service d’Endocinologie et Maladies Métaboliques, Hôpitaux Universitaires Paris-Centre, Assistance Publique – Hôpitaux de Paris, Paris, France

8. Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

9. Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, IRCSS Istituto Auxologico Italiano, Milan, Italy

10. Service d’Endocrinologie de l’Enfant, GHU Paris-Sud, Hôpital de Bicêtre, Paris, France

11. Centre National de Référence ‘Développement Génital: du fœtus à l’adulte DEV-GEN’, Paris, France

12. Fédération d’Endocrinologie, de Diabétologie et des Maladies Métaboliques, Hospices Civils des Lyon, Centre National de Référence ‘Développement Génital: du fœtus à l’adulte DEV-GEN’, Lyon, France

13. Department of Women’s Health, University Women’s Hospital, University of Tübingen, Tübingen, Germany

14. Endocrinology Unit, Paediatric University Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

15. Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Service d’Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de Hypophyse, Hôpital Bicêtre, Le Kremlin-Bicêtre, France

16. Department of Paediatric Endocrinology, Amalia Children’s Hospital, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

17. Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Universita’ Federico II di Napoli, Naples, Italy

18. Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium

19. Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK

20. Paediatric Endocrinology, Department of Paediatrics, Universitätsklinikum Erlangen, Erlangen, Germany

21. Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany

22. Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy

23. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

24. Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany

25. Department of Clinical Science and KG Jebsen Centre for Autoimmune Disorders, University of Bergen, Bergen, Norway

26. Department of Medicine, Haukeland University Hospital, Bergen, Norway

27. West Midlands Regional Genetics Laboratory, Birmingham Women’s Hospital NHS Foundation Trust, Birmingham, UK

28. Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

29. Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

30. Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria

31. Department of Paediatric Endocrinology and Diabetology and Reference Centre for Rare Diseases of Growth and Development, AP-HP Paris Nord Université de Paris, CHU Robert-Debre, Paris, France

32. Division of Endocrinology, Department of Internal Medicine 1, Goethe University Frankfurt Faculty 16 Medicine, Frankfurt am Main, Germany

33. Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

34. Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

35. Centre of Reproductive Medicine and Andrology, Clinical and Operative Andrology, University of Münster, Münster, Germany

36. Department of Paediatrics, Endocrine Unit, Scientific Institute San Raffaele, Milan, Italy

37. Dipartimento di Medicina, U.O.C. Endocrinologia, Università di Padova, Padova, Italy

38. Department of Endocrinology and Reproductive Medicine, Centre for Rare Endocrine and Gynaecological Disorders, Sorbonne Université, Assistance Publique Hopitaux de Paris, Paris, France

39. Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, Essen, Germany

40. Department of Paediatrics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia

41. Paediatric Endocrinology Service, Hospital Universitari Vall d’Hebron, Barcelona, Spain

42. Autonomous University of Barcelona, Bellaterra, Spain

43. CIBERER, ISCIII, Madrid, Spain

44. Department of Women’s and Children’s Health, Karolinska Institutet/Karolinska University Hospital, Paediatric Endocrinology Unit (QB83), Stockholm, Sweden

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 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.

Publisher

Oxford University Press (OUP)

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Link

https://eje.bioscientifica.com/downloadpdf/journals/eje/186/5/EJE-21-0554.xml

Reference53 articles.

1. Newborn screening for congenital adrenal hyperplasia;Therrell,2001

2. Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency;Reisch,2012

3. Update on the Swedish newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Zetterstrom,2020

4. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;Speiser,2001

5. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline;Speiser,2010

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Uncertain Knowledge: The Medicalisation of Intersex People and the Production of Ignorance;Social Sciences;2024-07-24

2. Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center;Orphanet Journal of Rare Diseases;2024-04-18

3. Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up‐to‐date comprehensive review;Prenatal Diagnosis;2024-03-06

4. Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-02

5. The I‐CAH Registry: A platform for international collaboration for improving knowledge and clinical care in congenital adrenal hyperplasia;Clinical Endocrinology;2023-08-21