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2. Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.

Author

Wiegmann, Sabine, Schilling, Ralph, Winter, Mirja, Ernst, Martina, Wechsung, Katja, Kalender, Ute, Stöckigt, Barbara, Richter-Unruh, Annette, Hiort, Olaf, Döhnert, Ulla, Marshall, Louise, Rohayem, Julia, Liesenkötter, Klaus-Peter, Wabitsch, Martin, Herrmann, Gloria, Ernst, Gundula, Roll, Stephanie, Keil, Thomas, and Neumann, Uta

Published
2024
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4. Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD

Author

Wiegmann, Sabine, Ernst, Martina, Ihme, Loretta, Wechsung, Katja, Kalender, Ute, Stöckigt, Barbara, Richter-Unruh, Annette, Vögler, Sander, Hiort, Olaf, Jürgensen, Martina, Marshall, Louise, Menrath, Ingo, Schneidewind, Julia, Wagner, Isabel, Rohayem, Julia, Liesenkötter, Klaus-Peter, Wabitsch, Martin, Fuchs, Malaika, Herrmann, Gloria, Lutter, Henriette, Ernst, Gundula, Lehmann, Christine, Haase, Martina, Roll, Stephanie, Schilling, Ralph, Keil, Thomas, and Neumann, Uta

Published
2022
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5. Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)

Author

Kohler, Birgit, Neumann, Uta, Cohen-Kettenis, Peggy, Kreukels, Baudewijntje, de Vries, Annelou, Arlt, Wiebke, Wiesemann, Claudia, Slowikowska-Hilczer, Jolanta, Thyen, Ute, Rapp, Marion, de la Perriere, Aude Brac, Sultan, Charles, Paris, Francoise, Reisch, Nicole, Richter-Unruh, Annette, van der Grinten, Hedi Claahsen, Bouvattier, Claire, Duranteau, Lise, Nordenström, Anna, Nordenskjöld, Agneta, Pienkowski, Catherine, Szarras-Czapnik, Maria, van de Grift, Tim C., Schober, Justine, Hirschberg, Angelica L., Krege, Susanne, Nordenstrom, Anna, Roehle, Robert, Kreukels, Baudewijntje P.C., and Nordenskjold, Agneta

Published
2021
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7. Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022

Author

Tseretopoulou, Xanthippi, Ali, Salma R., Bryce, Jillian, Amin, Nadia, Atapattu, Navoda, Bachega, Tania A.S.S., Baronio, Federico, Ortolano, Rita, Birkebaek, Niels H., Bonfig, Walter, Cools, Martine, Davies, Justin H., Thomas, Tessy, De Vries, Liat, Elsedfy, Heba, Amr, Nermine H., Flueck, Christa E., Globa, Evgenia, Guran, Tulay, Yavas-Abali, Zehra, Guven, Ayla, Hannema, Sabine E., Iotova, Violeta, Konrad, Daniel, Lenherr-Taube, Nina, Krone, Nils P., Leka-Emiri, Sofia, Vlachopapadopoulou, Elpis, Lichiardopol, Corina, Marginean, Otilia, Markosyan, Renata, Neumann, Uta, Niedziela, Marek, Banaszak-Ziemska, Magdalena, Phan-Hug, Franziska, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, Randell, Tabitha, Russo, Gianni, Salerno, Mariacarolina, Seneviratne, Sumudu, Shnorhavorian, Margarett, Thankamony, Ajay, Tadokoro-Curraro, Rieko, Van Den Akker, Erica, Van Eck, Judith, Vieites, Ana, Wasniewska, Malgorzata, Ahmed, S. Faisal, Tseretopoulou, Xanthippi, Ali, Salma R., Bryce, Jillian, Amin, Nadia, Atapattu, Navoda, Bachega, Tania A.S.S., Baronio, Federico, Ortolano, Rita, Birkebaek, Niels H., Bonfig, Walter, Cools, Martine, Davies, Justin H., Thomas, Tessy, De Vries, Liat, Elsedfy, Heba, Amr, Nermine H., Flueck, Christa E., Globa, Evgenia, Guran, Tulay, Yavas-Abali, Zehra, Guven, Ayla, Hannema, Sabine E., Iotova, Violeta, Konrad, Daniel, Lenherr-Taube, Nina, Krone, Nils P., Leka-Emiri, Sofia, Vlachopapadopoulou, Elpis, Lichiardopol, Corina, Marginean, Otilia, Markosyan, Renata, Neumann, Uta, Niedziela, Marek, Banaszak-Ziemska, Magdalena, Phan-Hug, Franziska, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, Randell, Tabitha, Russo, Gianni, Salerno, Mariacarolina, Seneviratne, Sumudu, Shnorhavorian, Margarett, Thankamony, Ajay, Tadokoro-Curraro, Rieko, Van Den Akker, Erica, Van Eck, Judith, Vieites, Ana, Wasniewska, Malgorzata, and Ahmed, S. Faisal

Abstract

Background: It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events. Aim: Study temporal trends of AI related AE in the I-CAH Registry. Methods: In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019. Results: In 2022, a total of 513 children from 38 centers in 21 countries with a median of 8 children (range 1-58) per center had 2470 visits evaluated over a 3-year period (2019-2022). The median SDE per patient year in 2022 was 0 (0-2.5) compared to 0.3 (0-6) in 2019 (P =. 01). Despite adjustment for age, CAH phenotype and duration of study period, a difference in SDE rate was still apparent between the 2 cohorts. Of the 38 centers in the 2022 cohort, 21 had also participated in 2019 and a reduction in SDE rate was noted in 13 (62%), an increase was noted in 3 (14%), and in 5 (24%) the rate remained the same. Of the 474 SDEs reported in the 2022 cohort, 103 (22%) led to hospitalization compared to 299 of 1099 SDEs (27%) in the 2019 cohort (P =. 02). Conclusion: The I-CAH Registry can be used for targeted monitoring of important clinical benchmarks in CAH. However, changes in reported benchmarks need careful interpretation and longer-term monitoring.

Published
2024

8. Model-Informed Target Morning 17α-Hydroxyprogesterone Concentrations in Dried Blood Spots for Pediatric Congenital Adrenal Hyperplasia Patients

Author

Stachanow, Viktoria, primary, Neumann, Uta, additional, Blankenstein, Oliver, additional, Alder-Baerens, Nele, additional, Bindellini, Davide, additional, Hindmarsh, Peter, additional, Ross, Richard J., additional, Whitaker, Martin J., additional, Melin, Johanna, additional, Huisinga, Wilhelm, additional, Michelet, Robin, additional, and Kloft, Charlotte, additional

Published
2023
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9. Insights in the maturational processes influencing hydrocortisone pharmacokinetics in congenital adrenal hyperplasia patients using a middle-out approach

Author

Michelet, Robin, primary, Bindellini, Davide, additional, Melin, Johanna, additional, Neumann, Uta, additional, Blankenstein, Oliver, additional, Huisinga, Wilhelm, additional, Johnson, Trevor N., additional, Whitaker, Martin J., additional, Ross, Richard, additional, and Kloft, Charlotte, additional

Published
2023
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10. Intersexual Twins due to Tetragametic Chimerism

Author

Wimmer, Rainer, primary, Neumann, Uta, additional, Weber, André, additional, Isau, Melanie, additional, Renner-Luetzkendorf, Heike, additional, Zschieschang, Petra, additional, Wachter, Oliver, additional, Hirv, Kaimo, additional, and Stumm, Markus, additional

Published
2022
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11. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, primary, Cools, Martine, additional, Ioakim, Stamatina, additional, Faisal Ahmed, S, additional, Andonova, Silvia, additional, Avbelj-Stefanija, Magdalena, additional, Baronio, Federico, additional, Bouligand, Jerome, additional, Bruggenwirth, Hennie T, additional, Davies, Justin H, additional, De Baere, Elfride, additional, Dzivite-Krisane, Iveta, additional, Fernandez-Alvarez, Paula, additional, Gheldof, Alexander, additional, Giavoli, Claudia, additional, Gravholt, Claus H, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Juul, Anders, additional, Krausz, Csilla, additional, Lagerstedt-Robinson, Kristina, additional, McGowan, Ruth, additional, Neumann, Uta, additional, Novelli, Antonio, additional, Peyrassol, Xavier, additional, Phylactou, Leonidas A, additional, Rohayem, Julia, additional, Touraine, Philippe, additional, Westra, Dineke, additional, Vezzoli, Valeria, additional, and Rossetti, Raffaella, additional

Published
2022
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16. Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) – longitudinal analysis of real world data from the I-CAH registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy E., Ali, Salma R., van den Akker, E., Bachega, Tania A.S.S., Baronio, Federico, Birkebæk, Niels, Bonfig, Walter, Claahsen-van der Grinten7, Hedi L., Cools, Martine, Costa, Eduardo Correa, De Vries, Liat, Fluck, Christa E., Gazdagh , Gabriella, Guven, Ayla, Hannema, Sabine E., Iotova, Violeta, van der Kamp , Hetty J., Krone, Ruth, Leka-Emiri , Sofia, Leon , Maria Clemente, Lichiardopol, Corina, Markosyan Markosyan , Renata L., Milenkovic, Tatjana, Costa de Miranda , Mirela, Neumann , Uta, Newell-Price, John, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, Russo, Gianni, de Sanctis, Luisa, Safwaan , Adam, Seneviratne , Sumudu, Stancampiano, M. R., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Wasniewska, Malgorzata, Yeste, Diego, Daniel, Eleni, Tomlinson, Jeremy W., Ahmed, S Faisal, and Krone, Nils P.

Published
2022
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19. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, primary, Bacila, Irina, additional, Dawson, Jeremy, additional, Bryce, Jillian, additional, Ali, Salma R., additional, van den Akker, Erica L. T., additional, Bachega, Tânia A. S. S., additional, Baronio, Federico, additional, Birkebæk, Niels H., additional, Bonfig, Walter, additional, van der Grinten, Hedi C., additional, Costa, Eduardo C., additional, de Vries, Liat, additional, Elsedfy, Heba, additional, Güven, Ayla, additional, Hannema, Sabine, additional, Iotova, Violeta, additional, van der Kamp, Hetty J., additional, Clemente, María, additional, Lichiardopol, Corina R., additional, Milenkovic, Tatjana, additional, Neumann, Uta, additional, Nordenström, Ana, additional, Poyrazoğlu, Şukran, additional, Probst‐Scheidegger, Ursina, additional, De Sanctis, Luisa, additional, Tadokoro‐Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Vieites, Ana, additional, Yavaş, Zehra, additional, Faisal Ahmed, Syed, additional, and Krone, Nils, additional

Published
2022
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20. Treatment of congenital adrenal hyperplasia in children aged 0–3 years: a retrospective\ud multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure

Author

Neumann, Uta, van der Linde, Annelieke, Krone, Ruth E., Krone, Nils P., Güven, Ayla, Güran, Tülay, Elsedfy, Heba, Poyrazoglu, Sukran, Darendeliler, Feyza, Bachega, Tania A., Balsamo, Antonio, Hannema, Sabine E., Birkebæk, Niels, Vieites, Ana, Thankamony, Ajay, Cools, Martin, Milenkovic, Tatjana, Bonfig, Walter, Costa, Eduardo Correa, Atapattu, Navoda, de Vries, Liat, Guaragna-Filho, Guilherme, Korbonits, Marta, Mohnike, Klaus, Bryce, Jillian, Ahmed, S. Faisal, Voet, Bernard, Blankenstein, Oliver, and Claahsen-van der Grinten, Hedi L.

Abstract

Objectives:\ud International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed.\ud \ud Aim:\ud To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0–3 years.\ud \ud Methods:\ud Retrospective multicentre analysis using data from the I-CAH registry. Salt-treated (ST) and non-salt-treated (NST) children were compared regarding FC and HC dosage, weight, height and BP at 0, 3, 6, 9, 12, 18, 24, 30, and 36 months.\ud \ud Results:\ud We analysed 2483 visits of 331 patients born after year 2000 in 13 countries (male, n = 145) with 203 ST patients (61%). NST children had significantly higher FC dosages at 1.5–4.5 months and higher HC dosages until 1.5 months of age. No differences in weight, length and BP between subgroups were observed. Children of the whole cohort showed increased BMI-SDS during the study period and about half of the reported BP readings were >P95.\ud \ud Conclusion:\ud In children treated with additional salt supplementation, FC and HC dosages are lower during the first months of life but without differences in weight, length and BP until 3 years of age compared to NST children. All children showed an increase in BMI-SDS and a high rate of BP readings >P95 until 3 years, indicating the start of weight gain and negative effects on blood pressure already in very early life.

Published
2022

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

Author

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

Published
2022

22. The genetic diagnosis of rare endocrine disorders of sex development and maturation:a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.

Published
2022

23. Treatment of congenital adrenal hyperplasia in children aged 0–3 years:A retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure

Author

Neumann, Uta, van der Linde, Annelieke, Krone, Ruth E., Krone, Nils P., Güven, Ayla, Güran, Tülay, Elsedfy, Heba, Poyrazoglu, Sukran, Darendeliler, Feyza, Bachega, Tania A.S.S., Balsamo, Antonio, Hannema, Sabine E., Birkebaek, Niels, Vieites, Ana, Thankamony, Ajay, Cools, Martine, Milenkovic, Tatjana, Bonfig, Walter, Costa, Eduardo Correa, Atapattu, Navoda, de Vries, Liat, Guaragna-Filho, Guilherme, Korbonits, Marta, Mohnike, Klaus, Bryce, Jillian, Ahmed, S. Faisal, Voet, Bernard, Blankenstein, Oliver, Claahsen-Van der Grinten, Hedi L., Neumann, Uta, van der Linde, Annelieke, Krone, Ruth E., Krone, Nils P., Güven, Ayla, Güran, Tülay, Elsedfy, Heba, Poyrazoglu, Sukran, Darendeliler, Feyza, Bachega, Tania A.S.S., Balsamo, Antonio, Hannema, Sabine E., Birkebaek, Niels, Vieites, Ana, Thankamony, Ajay, Cools, Martine, Milenkovic, Tatjana, Bonfig, Walter, Costa, Eduardo Correa, Atapattu, Navoda, de Vries, Liat, Guaragna-Filho, Guilherme, Korbonits, Marta, Mohnike, Klaus, Bryce, Jillian, Ahmed, S. Faisal, Voet, Bernard, Blankenstein, Oliver, and Claahsen-Van der Grinten, Hedi L.

Abstract

Objectives: International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed. Aim: To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0–3 years. Methods: Retrospective multicentre analysis using data from the I-CAH registry. Salt-treated (ST) and non-salt-treated (NST) children were compared regarding FC and HC dosage, weight, height and BP at 0, 3, 6, 9, 12, 18, 24, 30, and 36 months. Results: We analysed 2483 visits of 331 patients born after year 2000 in 13 countries (male, n = 145) with 203 ST patients (61%). NST children had significantly higher FC dosages at 1.5–4.5 months and higher HC dosages until 1.5 months of age. No differences in weight, length and BP between subgroups were observed. Children of the whole cohort showed increased BMI-SDS during the study period and about half of the reported BP readings were >P95. Conclusion: In children treated with additional salt supplementation, FC and HC dosages are lower during the first months of life but without differences in weight, length and BP until 3 years of age compared to NST children. All children showed an increase in BMI-SDS and a high rate of BP readings >P95 until 3 years, indicating the start of weight gain and negative effects on blood pressure already in very early life.

Published
2022

24. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, Krone, Nils, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, and Krone, Nils

Abstract

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4). Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries. Patients: Pseudonymized data from children with 21-hydroxylase deficiency (21OHD) recorded in the International CAH Registry. Measurements: Assessments between January 2000 and October 2020 in patients prescribed HC were reviewed to summarise biomarkers 17OHP and D4 and HC dose. Longitudinal assessment of measures was carried out using linear mixed-effects models (LMEM). Results: Cohort of 345 patients, 52.2% female, median age 4.3 years (interquartile range: 3.1–9.2) were taking a median 11.3 mg/m2/day (8.6–14.4) of HC. Median 17OHP was 35.7 nmol/l (3.0–104.0). Median D4 under 12 years was 0 nmol/L (0–2.0) and above 12 years was 10.5 nmol/L (3.9–21.0). There were significant differences in biomarker values between centres (p < 0.05). Correlation between D4 and 17OHP was good in multiple regression with age (p < 0.001, R2 = 0.29). In longitudinal assessment, 17OHP levels did not change with age, whereas D4 levels increased with age (p < 0.001, R2 = 0.08). Neither biomarker varied directly with dose or weight (p > 0.05). Multivariate LMEM showed HC dose decreasing by 1.0 mg/m2/day for every 1 point increase in weight standard deviation score. Discussion: Registry data show large variability in 17OHP and D4 between centres. 17OHP correlates with D4 well when accounting for age. Prescribed HC dose per body surface area decreased with weight gain.

Published
2022

25. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Endocrinologie patientenzorg, Child Health, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, Krone, Nils, Endocrinologie patientenzorg, Child Health, Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica L.T., Bachega, Tânia A.S.S., Baronio, Federico, Birkebæk, Niels H., Bonfig, Walter, van der Grinten, Hedi C., Costa, Eduardo C., de Vries, Liat, Elsedfy, Heba, Güven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Clemente, María, Lichiardopol, Corina R., Milenkovic, Tatjana, Neumann, Uta, Nordenström, Ana, Poyrazoğlu, Şukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Vieites, Ana, Yavaş, Zehra, Faisal Ahmed, Syed, and Krone, Nils

Published
2022

26. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

27. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Author

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

Published
2022
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28. Exploring Dried Blood Spot Cortisol Concentrations as an Alternative for Monitoring Pediatric Adrenal Insufficiency Patients: A Model-Based Analysis

Author

Stachanow, Viktoria, primary, Neumann, Uta, additional, Blankenstein, Oliver, additional, Bindellini, Davide, additional, Melin, Johanna, additional, Ross, Richard, additional, Whitaker, Martin J., additional, Huisinga, Wilhelm, additional, Michelet, Robin, additional, and Kloft, Charlotte, additional

Published
2022
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29. Exploring Dried Blood Spot Cortisol Concentrations as an Alternative for Monitoring Pediatric Adrenal Insufficiency Patients

Author

Stachanow, Viktoria, Neumann, Uta, Blankenstein, Oliver, Bindellini, Davide, Melin, Johanna, Ross, Richard, Whitaker, Martin J., Huisinga, Wilhelm, Michelet, Robin, and Kloft, Charlotte

Subjects
binding, pediatrics, dried blood spots, association, cortisol, adrenal insufficiency, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::615 Pharmakologie, Therapeutik, pharmacokinetics, red blood cells
Abstract

Congenital adrenal hyperplasia (CAH) is the most common form of adrenal insufficiency in childhood; it requires cortisol replacement therapy with hydrocortisone (HC, synthetic cortisol) from birth and therapy monitoring for successful treatment. In children, the less invasive dried blood spot (DBS) sampling with whole blood including red blood cells (RBCs) provides an advantageous alternative to plasma sampling. Potential differences in binding/association processes between plasma and DBS however need to be considered to correctly interpret DBS measurements for therapy monitoring. While capillary DBS samples would be used in clinical practice, venous cortisol DBS samples from children with adrenal insufficiency were analyzed due to data availability and to directly compare and thus understand potential differences between venous DBS and plasma. A previously published HC plasma pharmacokinetic (PK) model was extended by leveraging these DBS concentrations. In addition to previously characterized binding of cortisol to albumin (linear process) and corticosteroid-binding globulin (CBG; saturable process), DBS data enabled the characterization of a linear cortisol association with RBCs, and thereby providing a quantitative link between DBS and plasma cortisol concentrations. The ratio between the observed cortisol plasma and DBS concentrations varies highly from 2 to 8. Deterministic simulations of the different cortisol binding/association fractions demonstrated that with higher blood cortisol concentrations, saturation of cortisol binding to CBG was observed, leading to an increase in all other cortisol binding fractions. In conclusion, a mathematical PK model was developed which links DBS measurements to plasma exposure and thus allows for quantitative interpretation of measurements of DBS samples.

Published
2022
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30. International practice of therapy monitoring in congenital adrenal hyperplasia - Real World data from the I-CAH registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, van den Akker, Erica, Sartori Sanchez Bachega, Tania Aparecida, Baronio, Federico, Birkebaek, Niels Holtum, Bonfig, Walter, Claahsen, Hedi, Costa, Eduardo Correa, Devries, Liat, Elsedfy, Heba, Guven, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Leon, Maria Clemente, Lichiardopol, Corina Raducanu, Milenkovic, Tatjana, Neumann, Uta, Nordenstrom, Ana, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Thankamony, Ajay, Vieites, Ana, Yavas, Zehra, Ahmed, Faisal, Krone, Nils, Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, and Amsterdam Reproduction & Development

Published
2021

31. Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia longitudinal analysis of real world data from the I-CAH registry

Author

Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, van den Akker, Erica Lt, Sartori Sanchez Bachega, Tania Aparecida, Baronio, Federico, Birkebaek, Niels Holtum, Bonfig, Walter, Claahsen, Hedi, Costa, Eduardo Correa, Devries, Liat, Elsedfy, Heba, Guvan, Ayla, Hannema, Sabine, Iotova, Violeta, van der Kamp, Hetty J., Leon, Maria Clemente, Lichiardopol, Corina Raducanu, Milenkovic, Tatjana, Neumann, Uta, Nordenstrom, Anna, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, De Sanctis, Luisa, Thankamony, Ajay, Vieites, Ana, Yavas, Zehra, Ahmed, Faisal, Krone, Nils, Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, and Amsterdam Reproduction & Development

Published
2021

32. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Author

Lawrence, Neil, primary, Bacila, Irina, additional, Dawson, Jeremy, additional, Bryce, Jillian, additional, van, den Akker Erica, additional, Sartori, Sanchez Bachega Tania Aparecida, additional, Baronio, Federico, additional, Birkebaek, Niels Holtum, additional, Bonfig, Walter, additional, Claahsen, Hedi, additional, Correa, Costa Eduardo, additional, Devries, Liat, additional, Elsedfy, Heba, additional, Guven, Ayla, additional, Hannema, Sabine, additional, Iotova, Violeta, additional, van, der Kamp Hetty J, additional, Clemente, Leon Maria, additional, Lichiardopol, Corina Raducanu, additional, Milenkovic, Tatjana, additional, Neumann, Uta, additional, Nordenstrom, Ana, additional, Poyrazoglu, Sukran, additional, Probst-Scheidegger, Ursina, additional, De, Sanctis Luisa, additional, Thankamony, Ajay, additional, Vieites, Ana, additional, Yavas, Zehra, additional, Ahmed, Faisal, additional, and Krone, Nils, additional

Published
2021
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34. Real world estimates of adrenal insufficiency related adverse events in children with congenital adrenal hyperplasia

Author

Ali, Salma R., Bryce, Jillian, Haghpanahan, Houra, Lewsey, James D., Tan, Li En, Atapattu, Navoda, Birkebaek, Niels H., Blankenstein, Oliver, Neumann, Uta, Balsamo, Antonio, Ortolano, Rita, Bonfig, Walter, Claahsen-van der Grinten, Hedi L., Cools, Martine, Correa Costa, Eduardo, Darendeliler, Feyza, Poyrazoglu, Sukran, Elsedfy, Heba, Finken, Martijn J.J., Fluck, Christa E., Gevers, Evelien, Korbonits, Márta, Guaragna-Filho, Guilherme, Guran, Tulay, Guven, Ayla, Hannema, Sabine E., Higham, Claire, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Krone, Nils P., Krone, Ruth, Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice B., Bachega, Tania A.S.S., Miranda, Mirela C., Milenkovic, Tatjana, Mohnike, Klaus, Nordenstrom, Anna, Einaudi, Silvia, van der Kamp, Hetty, Vieites, Ana, Vries, Liat de, Ross, Richard J.M., and Ahmed, S. Faisal

Abstract

Background:\ud Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear.\ud \ud Methods:\ud Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analysed to examine the clinical factors associated with SDE and AC.\ud \ud Results:\ud 518 children with a median of 11 children (range 1, 53) per center had 5,388 visits evaluated over a total of 2,300 patient years. The median number of AC and SDE per patient year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1,544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1,105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (p

Published
2021

36. Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)

Author

Rapp, Marion, primary, Duranteau, Lise, additional, van de Grift, Tim C., additional, Schober, Justine, additional, Hirschberg, Angelica L., additional, Krege, Susanne, additional, Nordenstrom, Anna, additional, Roehle, Robert, additional, Thyen, Ute, additional, Bouvattier, Claire, additional, Kreukels, Baudewijntje P.C., additional, Nordenskjold, Agneta, additional, Kohler, Birgit, additional, Neumann, Uta, additional, Cohen-Kettenis, Peggy, additional, Kreukels, Baudewijntje, additional, de Vries, Annelou, additional, Arlt, Wiebke, additional, Wiesemann, Claudia, additional, Slowikowska-Hilczer, Jolanta, additional, Rapp, Marion, additional, de la Perriere, Aude Brac, additional, Sultan, Charles, additional, Paris, Francoise, additional, Reisch, Nicole, additional, Richter-Unruh, Annette, additional, van der Grinten, Hedi Claahsen, additional, Nordenström, Anna, additional, Nordenskjöld, Agneta, additional, Pienkowski, Catherine, additional, and Szarras-Czapnik, Maria, additional

Published
2021
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38. Rationale of a lower dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling

Author

Stachanow, Viktoria, Neumann, Uta, Blankenstein, Oliver, Fuhr, Uwe, Huisinga, Wilhelm, Michelet, Robin, Reisch, Nicole, Kloft, Charlotte, Stachanow, Viktoria, Neumann, Uta, Blankenstein, Oliver, Fuhr, Uwe, Huisinga, Wilhelm, Michelet, Robin, Reisch, Nicole, and Kloft, Charlotte

Abstract

Context: Prenatal dexamethasone therapy is used in female foetuses with congenital adrenal hyperplasia to suppress androgen excess and prevent virilisation of the external genitalia. The traditional dexamethasone dose of 20 mu g/kg/day has been used since decades without examination in clinical trials and is thus still considered experimental. Objective: As the traditional dexamethasone dose potentially causes adverse effects in treated mothers and foetuses, we aimed to provide a rationale of a reduced dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on a pharmacokinetics-based modelling and simulation framework. Methods: Based on a published dexamethasone dataset, a nonlinear mixed-effects model was developed describing maternal dexamethasone pharmacokinetics. In stochastic simulations (n = 1000), a typical pregnant population (n = 124) was split into two dosing arms receiving either the traditional 20 mu g/kg/day dexamethasone dose or reduced doses between 5 and 10 mu g/kg/day. Target maternal dexamethasone concentrations, identified from the literature, served as a threshold to be exceeded by 90% of mothers at a steady state to ensure foetal hypothalamic-pituitary-adrenal axis suppression. Results: A two-compartment dexamethasone pharmacokinetic model was developed and subsequently evaluated to be fit for purpose. The simulations, including a sensitivity analysis regarding the assumed foetal:maternal dexamethasone concentration ratio, resulted in 7.5 mu g/kg/day to be the minimum effective dose and thus our suggested dose. Conclusions: We conclude that the traditional dexamethasone dose is three-fold higher than needed, possibly causing harm in treated foetuses and mothers. The clinical relevance and appropriateness of our recommended dose should be tested in a prospective clinical trial.

Published
2021

39. Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21-hydroxylase deficiency in Europe

Author

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

Published
2021

40. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia:Data from the I-CAH registry

Author

Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., Krone, Nils P., Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., and Krone, Nils P.

Abstract

Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal var iations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (1 6 countries), analyzed data from the International-CAH Registry. Methods: Data were collected from 461 patients aged 0-18 years with cla ssic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equival ent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m 2/day at age 1-8 years and the highest dose of 14.0 (11.6- 17.4) mg/m2/day at age 12-18 years. Glucocorticoid doses decreased after 2 010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countr ies with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021

41. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: Data from the I-CAH registry

Author

Endocrinologie patientenzorg, Child Health, Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., Krone, Nils P., Endocrinologie patientenzorg, Child Health, Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., and Krone, Nils P.

Published
2021

42. Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia

Author

Utrecht Palliatie Centrum, Endocrinologie patientenzorg, Child Health, Ali, Salma R, Bryce, Jillian, Haghpanahan, Houra, Lewsey, James D, Tan, Li En, Atapattu, Navoda, Birkebaek, Niels H, Blankenstein, Oliver, Neumann, Uta, Balsamo, Antonio, Ortolano, Rita, Bonfig, Walter, Claahsen-van der Grinten, Hedi L, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Poyrazoglu, Sukran, Elsedfy, Heba, Finken, Martijn J J, Fluck, Christa E, Gevers, Evelien, Korbonits, Márta, Guaragna-Filho, Guilherme, Guran, Tulay, Guven, Ayla, Hannema, Sabine E, Higham, Claire, Hughes, Ieuan A, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Krone, Nils P, Krone, Ruth, Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice B, Bachega, Tania A S S, Miranda, Mirela C, Milenkovic, Tatjana, Mohnike, Klaus, Nordenstrom, Anna, Einaudi, Silvia, van der Kamp, Hetty, Vieites, Ana, de Vries, Liat, Ross, Richard J M, Ahmed, S Faisal, Utrecht Palliatie Centrum, Endocrinologie patientenzorg, Child Health, Ali, Salma R, Bryce, Jillian, Haghpanahan, Houra, Lewsey, James D, Tan, Li En, Atapattu, Navoda, Birkebaek, Niels H, Blankenstein, Oliver, Neumann, Uta, Balsamo, Antonio, Ortolano, Rita, Bonfig, Walter, Claahsen-van der Grinten, Hedi L, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Poyrazoglu, Sukran, Elsedfy, Heba, Finken, Martijn J J, Fluck, Christa E, Gevers, Evelien, Korbonits, Márta, Guaragna-Filho, Guilherme, Guran, Tulay, Guven, Ayla, Hannema, Sabine E, Higham, Claire, Hughes, Ieuan A, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Krone, Nils P, Krone, Ruth, Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice B, Bachega, Tania A S S, Miranda, Mirela C, Milenkovic, Tatjana, Mohnike, Klaus, Nordenstrom, Anna, Einaudi, Silvia, van der Kamp, Hetty, Vieites, Ana, de Vries, Liat, Ross, Richard J M, and Ahmed, S Faisal

Published
2021

43. Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21‑hydroxylase deficiency in Europe

Author

Nowotny, Hanna F., primary, Blankenstein, Oliver, additional, Neumann, Uta, additional, Ahmed, S. Faisal, additional, Allen, Stephanie, additional, Baronio, Federico, additional, Battelino, Tadej, additional, Bertherat, Jérôme, additional, Bonomi, Marco, additional, de, la Perrière Aude Brac, additional, Tardy, Véronique, additional, Brucker, Sara, additional, Cappa, Marco, additional, Chanson, Philippe, additional, Bouvattier, Claire, additional, Colao, Annamaria, additional, Cools, Martine, additional, Davies, Justin, additional, Fenske, Wiebke K., additional, Ghigo, Ezio, additional, Højbjerg, Gravholt Claus, additional, Hübner, Angela, additional, Husebye, Eystein Sverre, additional, Juul, Anders, additional, Kiefer, Florian W., additional, Léger, Juliane, additional, Meyer, Gesine, additional, Phylactou, Leonidas A., additional, Rohayem, Julia, additional, Russo, Gianni, additional, Scaroni, Carla, additional, Touraine, Philippe, additional, Unger, Nicole, additional, Hedi, L. Claahsen-van der Grinten, additional, Vojtková, Jarmila, additional, Yeste, Diego, additional, Günther, Dörr Helmut, additional, Lajic, Svetlana, additional, and Reisch, Nicole, additional

Published
2021
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45. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Author

Bacila, Irina, primary, Freeman, Nicole, additional, Daniel, Eleni, additional, Sandrk, Marija, additional, Bryce, Jillian, additional, Ali, Salma Rashid, additional, Yavas Abali, Zehra, additional, Atapattu, Navoda, additional, Bachega, Tania A, additional, Balsamo, Antonio, additional, Birkebæk, Niels, additional, Blankenstein, Oliver, additional, Bonfig, Walter, additional, Cools, Martine, additional, Costa, Eduardo Correa, additional, Darendeliler, Feyza, additional, Einaudi, Silvia, additional, Elsedfy, Heba Hassan, additional, Finken, Martijn, additional, Gevers, Evelien, additional, Claahsen-van der Grinten, Hedi L, additional, Guran, Tulay, additional, Güven, Ayla, additional, Hannema, Sabine E, additional, Higham, Claire E, additional, Iotova, Violeta, additional, van der Kamp, Hetty J, additional, Korbonits, Marta, additional, Krone, Ruth E, additional, Lichiardopol, Corina, additional, Luczay, Andrea, additional, Mendonca, Berenice Bilharinho, additional, Milenkovic, Tatjana, additional, Miranda, Mirela C, additional, Mohnike, Klaus, additional, Neumann, Uta, additional, Ortolano, Rita, additional, Poyrazoglu, Sukran, additional, Thankamony, Ajay, additional, Tomlinson, Jeremy W, additional, Vieites, Ana, additional, de Vries, Liat, additional, Ahmed, S Faisal, additional, Ross, Richard J, additional, and Krone, Nils P, additional

Published
2021
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46. Diagnosis of DSD in Children—Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study.

Author

Wechsung, Katja, Marshall, Louise, Jürgensen, Martina, and Neumann, Uta

Subjects
INFORMATION resources management, PATIENT advocacy, MEDICAL personnel, SOCIAL support, PRESSURE groups, PROFESSIONAL athletes
Abstract

Background: Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized. Methods: Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information. Results: The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD. Conclusions: The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools' evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders' needs. [ABSTRACT FROM AUTHOR]

Published
2022
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47. Response to ‘Hydrocortisone suspension formulations are not necessarily the same in the treatment of children with congenital adrenal hyperplasia’

Author

Michelet, Robin, primary, Melin, Johanna, additional, Parra‐Guillen, Zinnia P, additional, Neumann, Uta, additional, Whitaker, Martin J, additional, Stachanow, Viktoria, additional, Huisinga, Wilhelm, additional, Porter, John, additional, Blankenstein, Oliver, additional, Ross, Richard J, additional, and Kloft, Charlotte, additional

Published
2020
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48. Paediatric population pharmacokinetic modelling to assess hydrocortisone replacement dosing regimens in young children

Author

Michelet, Robin, primary, Melin, Johanna, additional, Parra-Guillen, Zinnia P., additional, Neumann, Uta, additional, Whitaker, J Martin, additional, Stachanow, Viktoria, additional, Huisinga, Wilhelm, additional, Porter, John, additional, Blankenstein, Oliver, additional, Ross, Richard J., additional, and Kloft, Charlotte, additional

Published
2020
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49. Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia

Author

Ali, Salma R, primary, Bryce, Jillian, additional, Haghpanahan, Houra, additional, Lewsey, James D, additional, Tan, Li En, additional, Atapattu, Navoda, additional, Birkebaek, Niels H, additional, Blankenstein, Oliver, additional, Neumann, Uta, additional, Balsamo, Antonio, additional, Ortolano, Rita, additional, Bonfig, Walter, additional, Claahsen-van der Grinten, Hedi L, additional, Cools, Martine, additional, Costa, Eduardo Correa, additional, Darendeliler, Feyza, additional, Poyrazoglu, Sukran, additional, Elsedfy, Heba, additional, Finken, Martijn J J, additional, Fluck, Christa E, additional, Gevers, Evelien, additional, Korbonits, Márta, additional, Guaragna-Filho, Guilherme, additional, Guran, Tulay, additional, Guven, Ayla, additional, Hannema, Sabine E, additional, Higham, Claire, additional, Hughes, Ieuan A, additional, Tadokoro-Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Iotova, Violeta, additional, Krone, Nils P, additional, Krone, Ruth, additional, Lichiardopol, Corina, additional, Luczay, Andrea, additional, Mendonca, Berenice B, additional, Bachega, Tania A S S, additional, Miranda, Mirela C, additional, Milenkovic, Tatjana, additional, Mohnike, Klaus, additional, Nordenstrom, Anna, additional, Einaudi, Silvia, additional, van der Kamp, Hetty, additional, Vieites, Ana, additional, de Vries, Liat, additional, Ross, Richard J M, additional, and Ahmed, S Faisal, additional

Published
2020
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