Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Hanna Nowotny; Uta Neumann; Véronique Tardy-Guidollet; S Faisal Ahmed; Federico Baronio; Tadej Battelino; Jérôme 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; Anders Juul; 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 Vojtková; Diego Yeste; Svetlana Lajic; Nicole Reisch

doi:10.1530/EJE-21-0554

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Hanna Nowotny, Uta Neumann, Véronique Tardy-Guidollet, S Faisal Ahmed, Federico Baronio, Tadej Battelino, Jérôme 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 FenskeEzio Ghigo, Roberta Giordano, Claus H Gravholt, Angela Huebner, Eystein Sverre Husebye, Rebecca Igbokwe, Anders Juul, 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 Vojtková, Diego Yeste, Svetlana Lajic, Nicole Reisch

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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.

Originalsprog	Engelsk
Tidsskrift	European Journal of Endocrinology
Vol/bind	186
Udgave nummer	5
Sider (fra-til)	K17-K24
ISSN	0804-4643
DOI	https://doi.org/10.1530/EJE-21-0554
Status	Udgivet - 23 mar. 2022

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10.1530/EJE-21-0554

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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., Dörr, H.-G., ... Reisch, N. (2022). Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. European Journal of Endocrinology, 186(5), K17-K24. https://doi.org/10.1530/EJE-21-0554

Nowotny, 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-G, 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 2022, 'Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe', European Journal of Endocrinology, bind 186, nr. 5, s. K17-K24. https://doi.org/10.1530/EJE-21-0554

@article{844854b36a94430c929262fa3f0ef182,

title = "Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe",

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.",

keywords = "Adrenal Hyperplasia, Congenital/diagnosis, Dexamethasone/therapeutic use, Europe/epidemiology, Female, Humans, Pregnancy, Prospective Studies",

author = "Hanna Nowotny and Uta Neumann and V{\'e}ronique Tardy-Guidollet and Ahmed, {S Faisal} and Federico Baronio and Tadej Battelino and J{\'e}r{\^o}me Bertherat and Oliver Blankenstein and Marco Bonomi and Claire Bouvattier and {Brac de la Perri{\`e}re}, Aude and Sara Brucker and Marco Cappa and Philippe Chanson and {Claahsen-van der Grinten}, {Hedi L} and Annamaria Colao and Martine Cools and Davies, {Justin H} and Helmut-G{\"u}nther D{\"o}rr and Fenske, {Wiebke K} and Ezio Ghigo and Roberta Giordano and Gravholt, {Claus H} and Angela Huebner and Husebye, {Eystein Sverre} and Rebecca Igbokwe and Anders Juul and Kiefer, {Florian W} and Juliane L{\'e}ger and Rita Menassa and Gesine Meyer and Vassos Neocleous and Phylactou, {Leonidas A} and Julia Rohayem and Gianni Russo and Carla Scaroni and Philippe Touraine and Nicole Unger and Jarmila Vojtkov{\'a} and Diego Yeste and Svetlana Lajic and Nicole Reisch",

year = "2022",

month = mar,

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doi = "10.1530/EJE-21-0554",

language = "English",

volume = "186",

pages = "K17--K24",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "BioScientifica Ltd.",

number = "5",

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TY - JOUR

T1 - Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

AU - Nowotny, Hanna

AU - Neumann, Uta

AU - Tardy-Guidollet, Véronique

AU - Ahmed, S Faisal

AU - Baronio, Federico

AU - Battelino, Tadej

AU - Bertherat, Jérôme

AU - Blankenstein, Oliver

AU - Bonomi, Marco

AU - Bouvattier, Claire

AU - Brac de la Perrière, Aude

AU - Brucker, Sara

AU - Cappa, Marco

AU - Chanson, Philippe

AU - Claahsen-van der Grinten, Hedi L

AU - Colao, Annamaria

AU - Cools, Martine

AU - Davies, Justin H

AU - Dörr, Helmut-Günther

AU - Fenske, Wiebke K

AU - Ghigo, Ezio

AU - Giordano, Roberta

AU - Gravholt, Claus H

AU - Huebner, Angela

AU - Husebye, Eystein Sverre

AU - Igbokwe, Rebecca

AU - Juul, Anders

AU - Kiefer, Florian W

AU - Léger, Juliane

AU - Menassa, Rita

AU - Meyer, Gesine

AU - Neocleous, Vassos

AU - Phylactou, Leonidas A

AU - Rohayem, Julia

AU - Russo, Gianni

AU - Scaroni, Carla

AU - Touraine, Philippe

AU - Unger, Nicole

AU - Vojtková, Jarmila

AU - Yeste, Diego

AU - Lajic, Svetlana

AU - Reisch, Nicole

PY - 2022/3/23

Y1 - 2022/3/23

N2 - 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.

AB - 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.

KW - Adrenal Hyperplasia, Congenital/diagnosis

KW - Dexamethasone/therapeutic use

KW - Europe/epidemiology

KW - Female

KW - Humans

KW - Pregnancy

KW - Prospective Studies

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U2 - 10.1530/EJE-21-0554

DO - 10.1530/EJE-21-0554

M3 - Journal article

C2 - 35235536

SN - 0804-4643

VL - 186

SP - K17-K24

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

IS - 5

ER -

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

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