Search

Your search keyword '"Claahsen‐van der Grinten, Hedi L."' showing total 284 results
Start Over Author "Claahsen‐van der Grinten, Hedi L."
284 results on '"Claahsen‐van der Grinten, Hedi L."'

1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Author

Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, and Flück, Christa E.

Published
2024
Full Text
View/download PDF

3. CRH receptor antagonist crinecerfont – a promising new treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Author

Kamrath, Clemens and Claahsen-van der Grinten, Hedi L.

Abstract

21-Hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), leads to impaired cortisol synthesis and androgen excess. Current treatments of patients with classic 21OHD with supraphysiological doses of glucocorticoids pose risks such as impaired growth and metabolic complications. We discuss the CRH receptor antagonist as a therapeutic option for children with classic 21OHD. A phase three trial of crinecerfont, a CRH receptor antagonist, offers a promising new treatment option. Crinecerfont helped to reduce glucocorticoid doses and to lower androgen levels. However, the study population may not be fully representative of the general 21OHD population. Successful implementation depends on patient adherence and monitoring to avoid possible complications such as adrenal crises. Overall, crinecerfont represents a valuable development, but further research and careful clinical management are needed to optimize its use in CAH treatment. [ABSTRACT FROM AUTHOR]

Published
2025
Full Text
View/download PDF

5. Cardiometabolic Aspects of Congenital Adrenal Hyperplasia

Author

Krysiak, Robert, Claahsen-van der Grinten, Hedi L, Reisch, Nicole, Touraine, Philippe, and Falhammar, Henrik

Abstract

Treatment of classic congenital adrenal hyperplasia (CAH) is directed at replacing deficient hormones and reducing androgen excess. However, even in the era of early diagnosis and lifelong hormonal substitution, the presence of CAH is still associated with numerous complications and also with increased mortality. The aim of this article was to create an authoritative and balanced review concerning cardiometabolic risk in patients with CAH. The authors searched all major databases and scanned reference lists of all potentially eligible articles to find relevant articles. The risk was compared with that in other forms of adrenal insufficiency. The reviewed articles, most of which were published recently, provided conflicting results, which can be partially explained by differences in the inclusion criteria and treatment, small sample sizes, and gene–environment interactions. However, many studies showed that the presence of CAH is associated with an increased risk of weight gain, worsening of insulin sensitivity, high blood pressure, endothelial dysfunction, early atherosclerotic changes in the vascular wall, and left ventricular diastolic dysfunction. These complications were more consistently reported in patients with classic than nonclassic CAH and were in part related to hormonal and functional abnormalities associated with this disorder and/or to the impact of overtreatment and undertreatment. An analysis of available studies suggests that individuals with classic CAH are at increased cardiometabolic risk. Excess cardiovascular and metabolic morbidity is likely multifactorial, related to glucocorticoid overtreatment, imperfect adrenal hormone replacement therapy, androgen excess, and adrenomedullary failure. Cardiometabolic effects of new therapeutic approaches require future targeted studies.Graphical abstract

Published
2025
Full Text
View/download PDF

7. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Author

Kouri, Chrysanthi, primary, Sommer, Grit, additional, Martinez de Lapiscina, Idoia, additional, Elzenaty, Rawda Naamneh, additional, Tack, Lloyd J.W., additional, Cools, Martine, additional, Ahmed, S. Faisal, additional, Flück, Christa E., additional, Abali, Saygin, additional, Abali, Zehra Yavas, additional, Akin, Leyla, additional, Almaraz, Maricruz, additional, Audí, Laura, additional, Aydin, Murat, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Bryce, Jillian, additional, Busiah, Kanetee, additional, Caimari, Maria, additional, Camats-Tarruella, Núria, additional, Campos-Martorell, Ariadna, additional, Castaño, Luis, additional, Casteràs, Anna, additional, Çetinkaya, Semra, additional, Chan, Yee-Ming, additional, Claahsen-van der Grinten, Hedi L., additional, Costa, Ines, additional, Darendeliler, Fatma Feyza, additional, Davies, Justin H., additional, Esteva, Isabel, additional, Fabbri-Scallet, Helena, additional, Finlayson, Courtney A., additional, Garcia, Emilio, additional, Garcia Cuartero, Beatriz, additional, German, Alina, additional, Globa, Evgenia, additional, Guerra-Junior, Gil, additional, Guerrero, Julio, additional, Guran, Tulay, additional, Hannema, Sabine E., additional, Hiort, Olaf, additional, Hirsch, Josephine, additional, Hughes, Leuan, additional, Janner, Marco, additional, Kolesinska, Zofia, additional, Lachlan, Katherine, additional, Lauber-Biason, Anna, additional, Malikova, Jana Krenek, additional, l'Allemand, Dagmar, additional, Lenhnerr-Taube, Nina, additional, Lucas-Herald, Angela, additional, Mammadova, Jamala, additional, MсElreavey, Kenneth, additional, Mericq, Veronica, additional, Mönig, Isabel, additional, Moreno, Francisca, additional, Mührer, Julia, additional, Niedziela, Marek, additional, Nordenstrom, Anna, additional, Orman, Burçe, additional, Poyrazoglu, Sukran, additional, Rial, Jose M., additional, Rutter, Meilan M., additional, Rodríguez, Amaia, additional, Schafer-Kalkhoff, Tara, additional, Sauter, Kay-Sara, additional, Seneviratne, Sumudu Nimali, additional, Sredkova-Ruskova, Maria, additional, Tadokoro-Cuccaro, Rieko, additional, Thankamony, Ajay, additional, Tomé, Mónica, additional, Vela, Amaia, additional, Wasniewska, Malgorzata, additional, Zangen, David, additional, and Zelinska, Nataliya, additional

Published
2024
Full Text
View/download PDF

11. Hormonal control during infancy and testicular adrenal rest tumor development in CAH males - a retrospective multi-center cohort study

Author

Schröder, Mariska A M, primary, Neacşu, Mihaela, additional, Adriaansen, Bas P H, additional, Sweep, Fred C G J, additional, Ahmed, S Faisal, additional, Ali, Salma R, additional, Bachega, Tânia A S S, additional, Baronio, Federico, additional, Birkebæk, Niels Holtum, additional, de Bruin, Christiaan, additional, Bonfig, Walter, additional, Bryce, Jillian, additional, Clemente, Maria, additional, Cools, Martine, additional, Elsedfy, Heba, additional, Globa, Evgenia, additional, Guran, Tulay, additional, Güven, Ayla, additional, Amr, Nermine Hussein, additional, Janus, Dominika, additional, Taube, Nina Lenherr, additional, Markosyan, Renata, additional, Miranda, Mirela, additional, Poyrazoğlu, Şükran, additional, Rees, Aled, additional, Salerno, Mariacarolina, additional, Stancampiano, Marianna Rita, additional, Vieites, Ana, additional, de Vries, Liat, additional, Yavas Abali, Zehra, additional, Span, Paul N, additional, and Claahsen-van der Grinten, Hedi L, additional

Published
2023
Full Text
View/download PDF

12. Quality of life in men with Klinefelter syndrome: a multicentre study

Author

Franik, Sebastian, primary, Fleischer, Kathrin, additional, Kortmann, Barbara, additional, Stikkelbroeck, Nike M, additional, D’Hauwers, Kathleen, additional, Bouvattier, Claire, additional, Slowikowska-Hilczer, Jolanta, additional, Grunenwald, Solange, additional, van de Grift, Tim, additional, Cartault, Audrey, additional, Richter-Unruh, Annette, additional, Reisch, Nicole, additional, Thyen, Ute, additional, IntHout, Joanna, additional, Claahsen-van der Grinten, Hedi L, additional, and _, _, additional

Published
2023
Full Text
View/download PDF

13. The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia

Author

Shafaay, Edi A., primary, Aldriweesh, Mohammed A., additional, Aljahdali, Ghadeer L., additional, Babiker, Amir, additional, Alomar, Abdulrahman O., additional, Alharbi, Khulood M., additional, Aldalaan, Haneen, additional, Alenazi, Ahmed, additional, Alangari, Abdulaziz S., additional, Alsagheir, Afaf, additional, Adriaansen, Bas P. H., additional, Claahsen – van der Grinten, Hedi L., additional, and Al Alwan, Ibrahim, additional

Published
2023
Full Text
View/download PDF

14. Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Author

Utari, Agustini, primary, Faradz, Sultana M. H., additional, Ediati, Annastasia, additional, Rinne, Tuula, additional, Ariani, Mahayu Dewi, additional, Juniarto, Achmad Zulfa, additional, Drop, Stenvert L. S., additional, van Herwaarden, Antonius E., additional, and Claahsen-van der Grinten, Hedi L., additional

Published
2023
Full Text
View/download PDF

16. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Author

Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P., Carvill, Gemma L., Van Esch, Hilde, Bosch, Daniëlle G. M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A., van Bon, Bregje W., Claahsen-van der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J. C., Stumpel, Connie T., Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E. L. M., Eichler, Evan E., and de Vries, Bert B. A.

Published
2018
Full Text
View/download PDF

17. Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Author

Utari, Agustini, primary, Faradz, Sultana M. H., additional, Ediati, Annastasia, additional, Rinne, Tuula, additional, Ariani, Mahayu Dewi, additional, Juniarto, Achmad Zulfa, additional, Drop, Stenvert L. S., additional, van Herwaarden, Antonius E., additional, and Claahsen-van der Grinten, Hedi L., additional

Published
2022
Full Text
View/download PDF

20. Transcriptional comparison of testicular adrenal rest tumors with fetal and adult tissues

Author

Schröder, Mariska A M, primary, Sweep, Fred C G J, additional, van Herwaarden, Antonius E, additional, Mitchell, Rod T, additional, Eliveld, Jitske, additional, van Pelt, Ans M M, additional, Rowan, Alan E, additional, Korbie, Darren, additional, Stikkelbroeck, Nike M M L, additional, Claahsen-van der Grinten, Hedi L, additional, and Span, Paul N, additional

Published
2022
Full Text
View/download PDF

21. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Author

Garrelfs, Mark R, Rinne, Tuula, Hillebrand, Jacquelien J, Lauffer, Peter, Bijlsma, Merijn W, Claahsen-van der Grinten, Hedi L, de Leeuw, Nicole, Finken, Martijn J J, Rotteveel, Joost, Zwaveling-Soonawala, Nitash, Nieuwdorp, Max, van Trotsenburg, A S Paul, Mooij, Christiaan F, Pediatrics, Amsterdam Reproduction & Development (AR&D), Internal medicine, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, General Paediatrics, Endocrinology Laboratory, Graduate School, Paediatric Pulmonology, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Neurology, ANS - Neuroinfection & -inflammation, ANS - Complex Trait Genetics, Experimental Vascular Medicine, and Vascular Medicine

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health
Abstract

Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8:NM_000498.3:c.400G>A p.(Gly134Arg). The patient presented shortly after birth with severe signs of aldosterone deficiency. Interestingly, segregation analysis revealed that the patient's asymptomatic father was also homozygous for the CYP11B2 variant. Biochemical evaluation of the father indicated subclinical enzyme impairment, characterized by elevated aldosterone precursors. Apparently, this homozygous variant led to different clinical phenotypes in two affected relatives. In this manuscript we elaborate on the performed biochemical and genetic work-up and describe potential pitfalls of CYP11B2 sequencing due to its homology to CYP11B2.

Published
2022
Full Text
View/download PDF

22. 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

23. Birth Weight in Different Etiologies of Disorders of Sex Development

Author

Poyrazoglu, Sukran, Darendeliler, Feyza, Ahmed, S. Faisal, Hughes, Ieuan, Bryce, Jillian, Jiang, Jipu, Rodie, Martina, Hiort, Olaf, Hannema, Sabine E., Bertelloni, Silvano, Lisa, Lidka, Guran, Tulay, Cools, Martine, Desloovere, An, Claahsen-van der Grinten, Hedi L., Nordenstrom, Anna, Holterhus, Paul-Martin, Kohler, Birgit, Niedziela, Marek, and Krone, Nils

Published
2017

26. The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

Author

Franik, Sebastian, primary, Fleischer, Kathrin, additional, Kortmann, Barbara, additional, Stikkelbroeck, Nike M, additional, D’Hauwers, Kathleen, additional, Bouvattier, Claire, additional, Slowikowska-Hilczer, Jolanta, additional, Grunenwald, Solange, additional, van de Grift, Tim, additional, Cartault, Audrey, additional, Richter-Unruh, Annette, additional, Reisch, Nicole, additional, Thyen, Ute, additional, IntHout, Joanna, additional, Claahsen-van der Grinten, Hedi L, additional, and _, _, additional

Published
2022
Full Text
View/download PDF

27. Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Author

Waaijers, Selma, primary, Utari, Agustini, additional, van der Doelen, Rick H. A., additional, Faradz, Sultana M. H., additional, Hensen‐Lodewijk, Renate, additional, Olthaar, Andre J., additional, Geutjes, Paul J., additional, Sweep, Fred C., additional, Claahsen‐van der Grinten, Hedi L., additional, and van Herwaarden, Antonius E., additional

Published
2022
Full Text
View/download PDF

28. 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
Full Text
View/download PDF

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

Author

Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jérôme, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, Brac de la Perrière, Aude, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L, 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, Vojtková, Jarmila, Yeste Fernández, Diego, Lajic, Svetlana, Reisch, Nicole, Universitat Autònoma de Barcelona, Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jérôme, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, Brac de la Perrière, Aude, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L, 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, Vojtková, Jarmila, Yeste Fernández, Diego, Lajic, Svetlana, Reisch, Nicole, and Universitat Autònoma de Barcelona

Abstract

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

Published
2022

30. Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency

Author

Schröder, Mariska A.M., Van Herwaarden, Antonius E., Span, Paul N., Van Den Akker, Erica L.T., Bocca, Gianni, Hannema, Sabine E., Van Der Kamp, Hetty J., De Kort, Sandra W.K., Mooij, Christiaan F., Schott, Dina A., Straetemans, Saartje, Van Tellingen, Vera, Van Der Velden, Janiëlle A., Sweep, Fred C.G.J., Claahsen-Van Der Grinten, Hedi L., Schröder, Mariska A.M., Van Herwaarden, Antonius E., Span, Paul N., Van Den Akker, Erica L.T., Bocca, Gianni, Hannema, Sabine E., Van Der Kamp, Hetty J., De Kort, Sandra W.K., Mooij, Christiaan F., Schott, Dina A., Straetemans, Saartje, Van Tellingen, Vera, Van Der Velden, Janiëlle A., Sweep, Fred C.G.J., and Claahsen-Van Der Grinten, Hedi L.

Abstract

Context: Hydrocortisone treatment of young patients with 21-hydroxylase deficiency (21OHD) is given thrice daily, but there is debate about the optimal timing of the highest hydrocortisone dose, either mimicking the physiological diurnal rhythm (morning), or optimally suppressing androgen activity (evening). Objective: We aimed to compare 2 standard hydrocortisone timing strategies, either highest dosage in the morning or evening, with respect to hormonal status throughout the day, nocturnal blood pressure (BP), and sleep and activity scores. Methods: This 6-week crossover study included 39 patients (aged 4-19 years) with 21OHD. Patients were treated for 3 weeks with the highest hydrocortisone dose in the morning, followed by 3 weeks with the highest dose in the evening (n=21), or vice versa (n=18). Androstenedione (A4) and 17-hydroxyprogesterone (17OHP) levels were quantified in saliva collected at 5 am; 7 am; 3 pm; and 11 pm during the last 2 days of each treatment period. The main outcome measure was comparison of saliva 17OHP and A4 levels between the 2 treatment strategies. Results: Administration of the highest dose in the evening resulted in significantly lower 17OHP levels at 5 am, whereas the highest dose in the morning resulted in significantly lower 17OHP and A4 levels in the afternoon. The 2 treatment dose regimens were comparable with respect to averaged daily hormone levels, nocturnal BP, and activity and sleep scores. Conclusion: No clear benefit for either treatment schedule was established. Given the variation in individual responses, we recommend individually optimizing dose distribution and monitoring disease control at multiple time points.

Published
2022

31. Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency:Lessons from a developing country

Author

Utari, Agustini, Faradz, Sultana M.H., Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L.S., van Herwaarden, Antonius E., Claahsen-van der Grinten, Hedi L., Utari, Agustini, Faradz, Sultana M.H., Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L.S., van Herwaarden, Antonius E., and Claahsen-van der Grinten, Hedi L.

Abstract

Background: Congenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and accumulation of adrenal androgens and steroid precursors with mineralocorticoid activity. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females (differences of sex development (DSD)), and hypertension. Medical treatment recommendations are well defined, consisting of glucocorticoid treatment to substitute glucocorticoid deficiency and consequently normalize adrenal androgen and precursors levels. Current guidelines also emphasize the need for specialized multidisciplinary DSD teams and psychosocial support. In many developing countries, care for DSD patients, especially when caused by an adrenal disease, is challenging due to the lack of infrastructure, knowledge, and medication. Objective: The study aims to report the conflicting decision-making process of medical treatment and sex assignment in late-identified CAH patients in developing countries. Methods: We describe the clinical and biochemical findings and the psychological assessment of five affected but untreated family members with CAH due to CYP11B1 deficiency. Results: All patients had a 46,XX karyotype, ambiguous genitalia, low cortisol levels, and hypertension. Two identified as males, two as females, and one had undecided gender. The patients were counselled that refusing treatment will lead to infertility and the potential risk of developing Addisonian crisis and severe hypertension. However, all 46,XX CAH males refused treatment with glucocorticoids due to the expected lowering of adrenal androgens as their main source of testosterone. None of the patients developed Addisonian crisis, probably due to some residual cortisol activity and glucocorticoid activity of elevated adrenal steroid precursors. Conclusion: Medical treatment and sex assignment in late-identified 46,XX CAH patients in Indonesia may often depe

Published
2022

32. 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

33. Diurnal salivary androstenedione and 17-hydroxyprogesterone levels in healthy volunteers for monitoring treatment efficacy of patients with congenital adrenal hyperplasia

Author

CDL Cluster Speciële Diagnostiek, Other research (not in main researchprogram), Adriaansen, Bas P H, Kamphuis, Johannes S, Schröder, Mariska A M, Olthaar, André J, Bock, Carina, Brandt, André, Stikkelbroeck, Nike M M L, Lentjes, Eef G W M, Span, Paul N, Sweep, Fred C G J, Claahsen-van der Grinten, Hedi L, van Herwaarden, Antonius E, CDL Cluster Speciële Diagnostiek, Other research (not in main researchprogram), Adriaansen, Bas P H, Kamphuis, Johannes S, Schröder, Mariska A M, Olthaar, André J, Bock, Carina, Brandt, André, Stikkelbroeck, Nike M M L, Lentjes, Eef G W M, Span, Paul N, Sweep, Fred C G J, Claahsen-van der Grinten, Hedi L, and van Herwaarden, Antonius E

Published
2022

34. Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency

Author

Endocrinologie patientenzorg, Child Health, Schröder, Mariska A.M., Van Herwaarden, Antonius E., Span, Paul N., Van Den Akker, Erica L.T., Bocca, Gianni, Hannema, Sabine E., Van Der Kamp, Hetty J., De Kort, Sandra W.K., Mooij, Christiaan F., Schott, Dina A., Straetemans, Saartje, Van Tellingen, Vera, Van Der Velden, Janiëlle A., Sweep, Fred C.G.J., Claahsen-Van Der Grinten, Hedi L., Endocrinologie patientenzorg, Child Health, Schröder, Mariska A.M., Van Herwaarden, Antonius E., Span, Paul N., Van Den Akker, Erica L.T., Bocca, Gianni, Hannema, Sabine E., Van Der Kamp, Hetty J., De Kort, Sandra W.K., Mooij, Christiaan F., Schott, Dina A., Straetemans, Saartje, Van Tellingen, Vera, Van Der Velden, Janiëlle A., Sweep, Fred C.G.J., and Claahsen-Van Der Grinten, Hedi L.

Published
2022

35. Diurnal salivary androstenedione and 17‐hydroxyprogesterone levels in healthy volunteers for monitoring treatment efficacy of patients with congenital adrenal hyperplasia

Author

Adriaansen, Bas P. H., primary, Kamphuis, Johannes S., additional, Schröder, Mariska A. M., additional, Olthaar, André J., additional, Bock, Carina, additional, Brandt, André, additional, Stikkelbroeck, Nike M. M. L., additional, Lentjes, Eef G. W. M., additional, Span, Paul N., additional, Sweep, Fred C. G. J., additional, Claahsen‐van der Grinten, Hedi L., additional, and van Herwaarden, Antonius E., additional

Published
2022
Full Text
View/download PDF

38. Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency

Author

Schröder, Mariska A M, primary, van Herwaarden, Antonius E, additional, Span, Paul N, additional, van den Akker, Erica L T, additional, Bocca, Gianni, additional, Hannema, Sabine E, additional, van der Kamp, Hetty J, additional, de Kort, Sandra W K, additional, Mooij, Christiaan F, additional, Schott, Dina A, additional, Straetemans, Saartje, additional, van Tellingen, Vera, additional, van der Velden, Janiëlle A, additional, Sweep, Fred C G J, additional, and Claahsen-van der Grinten, Hedi L, additional

Published
2021
Full Text
View/download PDF

42. Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries.

Author

Waaijers, Selma, Utari, Agustini, van der Doelen, Rick H. A., Faradz, Sultana M. H., Hensen‐Lodewijk, Renate, Olthaar, Andre J., Geutjes, Paul J., Sweep, Fred C., Claahsen‐van der Grinten, Hedi L., and van Herwaarden, Antonius E.

Subjects
ADRENOGENITAL syndrome, LIQUID chromatography-mass spectrometry, DEVELOPING countries, INDONESIANS
Abstract

Objective: Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow‐up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients. Design: A method was developed to measure steroids in hair, the stability of steroids in hair was assessed, and the concentration range in healthy volunteers was determined. Hair samples of patients, before and after starting therapy, were transported at ambient temperature to The Netherlands for analysis. Patients: Twenty‐two Indonesian CAH patients and 84 healthy volunteers participated. Measurements: Cortisol, 17‐hydroxyprogesterone (17OHP), androstenedione, and testosterone in hair were measured by liquid chromatography with tandem mass spectrometry. Results: Steroids in hair could be measured and remained stable (<4.9% deviation) for at least 3 weeks at 4°C and 30°C. In each of the untreated patients, hair concentrations of 17OHP (9.43–1135 pmol/g), androstenedione (36.1–432 pmol/g), and testosterone (2.85–69.2 pmol/g) were all above the upper limit of the corresponding range in healthy volunteers; 5.5 pmol/g, 13 pmol/g, and 1.8 pmol/g, respectively. After starting glucocorticoid treatment, the steroid concentrations in the hair of CAH patients decreased significantly for androstenedione (73%) and testosterone (59%) after 6 months. Conclusions: CAH could be confirmed in Indonesian patients based on the concentration of 17OHP, androstenedione, and testosterone in hair, and a treatment effect was observed. These findings open up opportunities to diagnose and/or monitor CAH in developing countries with a simple noninvasive technique. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

45. Compromised Adult Height in Females with Non-Classical Congenital Adrenal Hyperplasia Diagnosed in Childhood.

Author

Adriaansen, Bas P.H., van Herwaarden, Antonius E., Sweep, Fred C.G.J., and Claahsen-van der Grinten, Hedi L.

Subjects
ADRENOGENITAL syndrome, PATIENT compliance, PRECOCIOUS puberty, STATISTICAL bias, ADULTS
Abstract

This document is a letter responding to a research paper titled "Compromised adult height in females with non-classical congenital adrenal hyperplasia diagnosed in childhood." The authors of the letter express interest in the study, which examines the final height of females with non-classical congenital adrenal hyperplasia (NCCAH). The study suggests that androgen excess, rather than glucocorticoid treatment, is the main cause of compromised adult height in these patients. However, the authors of the letter question the methodology of the study and suggest that confounding bias may have affected the results. They also highlight the need for further studies, including prospective controlled studies, to gain a better understanding of the effects of glucocorticoids on final height in NCCAH. [Extracted from the article]

Published
2024
Full Text
View/download PDF

46. 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

47. Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

Author

Stroek, Kevin, primary, Ruiter, An, additional, van der Linde, Annelieke, additional, Ackermans, Mariette, additional, Bouva, Marelle J, additional, Engel, Henk, additional, Jakobs, Bernadette, additional, Kemper, Evelien A, additional, van den Akker, Erica L T, additional, van Albada, Mirjam E, additional, Bocca, Gianni, additional, Finken, Martijn J J, additional, Hannema, Sabine E, additional, Mieke Houdijk, E C A, additional, van der Kamp, Hetty J, additional, van Tellingen, Vera, additional, Paul van Trotsenburg, A S, additional, Zwaveling-Soonawala, Nitash, additional, Bosch, Annet M, additional, de Jonge, Robert, additional, Heijboer, Annemieke C, additional, Claahsen-van der Grinten, Hedi L, additional, and Boelen, Anita, additional

Published
2021
Full Text
View/download PDF

48. Gonadectomy in conditions affecting sex development: a registry-based cohort study

Author

Lucas-Herald, Angela K, primary, Bryce, Jillian, additional, Kyriakou, Andreas, additional, Ljubicic, Marie Lindhardt, additional, Arlt, Wiebke, additional, Audi, Laura, additional, Balsamo, Antonio, additional, Baronio, Federico, additional, Bertelloni, Silvano, additional, Bettendorf, Markus, additional, Brooke, Antonia, additional, Claahsen van der Grinten, Hedi L, additional, Davies, Justin H, additional, Hermann, Gloria, additional, de Vries, Liat, additional, Hughes, Ieuan A, additional, Tadokoro-Cuccaro, Rieko, additional, Darendeliler, Feyza, additional, Poyrazoglu, Sukran, additional, Ellaithi, Mona, additional, Evliyaoglu, Olcay, additional, Fica, Simone, additional, Nedelea, Lavinia, additional, Gawlik, Aneta, additional, Globa, Evgenia, additional, Zelinska, Nataliya, additional, Guran, Tulay, additional, Güven, Ayla, additional, Hannema, Sabine E, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Iotova, Violeta, additional, Mladenov, Vilhelm, additional, Jain, Vandana, additional, Sharma, Rajni, additional, Jennane, Farida, additional, Johnston, Colin, additional, Guerra Junior, Gil, additional, Konrad, Daniel, additional, Gaisl, Odile, additional, Krone, Nils, additional, Krone, Ruth, additional, Lachlan, Katherine, additional, Li, Dejun, additional, Lichiardopol, Corina, additional, Lisa, Lidka, additional, Markosyan, Renata, additional, Mazen, Inas, additional, Mohnike, Klaus, additional, Niedziela, Marek, additional, Nordenstrom, Anna, additional, Rey, Rodolfo, additional, Skaeil, Mars, additional, Tack, Lloyd J W, additional, Tomlinson, Jeremy, additional, Weintrob, Naomi, additional, Cools, Martine, additional, and Ahmed, S Faisal, additional

Published
2021
Full Text
View/download PDF

49. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Author

Claahsen - van der Grinten, Hedi L, primary, Speiser, Phyllis W, additional, Ahmed, S Faisal, additional, Arlt, Wiebke, additional, Auchus, Richard J, additional, Falhammar, Henrik, additional, Flück, Christa E, additional, Guasti, Leonardo, additional, Huebner, Angela, additional, Kortmann, Barbara B M, additional, Krone, Nils, additional, Merke, Deborah P, additional, Miller, Walter L, additional, Nordenström, Anna, additional, Reisch, Nicole, additional, Sandberg, David E, additional, Stikkelbroeck, Nike M M L, additional, Touraine, Philippe, additional, Utari, Agustini, additional, Wudy, Stefan A, additional, and White, Perrin C, additional

Published
2021
Full Text
View/download PDF

50. Prevalence and Risk Factors of Hypothalamic-Pituitary Dysfunction in Infant and Toddler Brain Tumor Survivors

Author

Lebbink, Chantal A, primary, Ringers, Tiara P, additional, Schouten-van Meeteren, Antoinette Y N, additional, van Iersel, Laura, additional, Clement, Sarah C, additional, Boot, Annemieke M, additional, Claahsen-van der Grinten, Hedi L, additional, Janssens, Geert O R, additional, van Vuurden, Dannis G, additional, Michiels, Erna M, additional, Han, K Sen, additional, van Trotsenburg, A S Paul, additional, Vandertop, W Peter, additional, Kremer, Leontien C M, additional, and van Santen, Hanneke M, additional

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results