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Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demonstrated in women with CAH, but data on men with CAH are scarc...

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Autores principales: Verhees, Myrthe J. M., Engels, Manon, Span, Paul N., Sweep, Fred C. G. J., van Herwaarden, Antonius E., Falhammar, Henrik, Nordenström, Anna, Webb, Emma A., Richter-Unruh, Annette, Bouvattier, Claire, de la Perrière, Aude Brac, Arlt, Wiebke, Reisch, Nicole, Köhler, Birgit, Rapp, Marion, Stikkelbroeck, Nike M. M. L., Roeleveld, Nel, Claahsen-van der Grinten, Hedi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018222/
https://www.ncbi.nlm.nih.gov/pubmed/33815285
http://dx.doi.org/10.3389/fendo.2021.626646
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author Verhees, Myrthe J. M.
Engels, Manon
Span, Paul N.
Sweep, Fred C. G. J.
van Herwaarden, Antonius E.
Falhammar, Henrik
Nordenström, Anna
Webb, Emma A.
Richter-Unruh, Annette
Bouvattier, Claire
de la Perrière, Aude Brac
Arlt, Wiebke
Reisch, Nicole
Köhler, Birgit
Rapp, Marion
Stikkelbroeck, Nike M. M. L.
Roeleveld, Nel
Claahsen-van der Grinten, Hedi L.
author_facet Verhees, Myrthe J. M.
Engels, Manon
Span, Paul N.
Sweep, Fred C. G. J.
van Herwaarden, Antonius E.
Falhammar, Henrik
Nordenström, Anna
Webb, Emma A.
Richter-Unruh, Annette
Bouvattier, Claire
de la Perrière, Aude Brac
Arlt, Wiebke
Reisch, Nicole
Köhler, Birgit
Rapp, Marion
Stikkelbroeck, Nike M. M. L.
Roeleveld, Nel
Claahsen-van der Grinten, Hedi L.
author_sort Verhees, Myrthe J. M.
collection PubMed
description Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demonstrated in women with CAH, but data on men with CAH are scarce. We hypothesized that disease severity and poor treatment control are inversely associated with QoL. In this study, 109 men (16-68 years) with 21OHD were included. The WHOQOL-BREF questionnaire was used to measure self-reported QoL domain scores on a 0-100 scale, where higher scores reflect better QoL. QoL domain scores were compared to published data on healthy and chronically ill reference populations from France, Germany, the Netherlands, and the United Kingdom. Differences in QoL scores among groups of disease severity and treatment control were tested within the study population. Overall, the men with CAH in this study appeared to rate their QoL as good. Median domain scores were 78.6 (IQR: 67.9-85.7) for physical health, 79.2 (IQR: 66.7-87.5) for psychological health, 75.0 (IQR: 58.3-83.3) for social relationships, and 81.3 (IQR: 71.9-90.6) for environment. In general, these scores were similar to WHOQOL-BREF domain scores in healthy references and higher compared to chronically ill reference populations. The domain scores did not differ among genotype groups, but patients with undertreatment or increased 17-hydroxyprogestrone concentrations scored higher on several QoL domains (p<0.05). Patients treated with dexamethasone or prednisone scored higher on the physical health, psychological health, and social relationships domains, but not on the environmental domain. In conclusion, QoL domain scores appeared to be comparable to healthy reference populations and higher compared to patients with a chronic illness. QoL was not influenced by genotype, but undertreatment and use of dexamethasone or prednisone were associated with higher QoL.
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spelling pubmed-80182222021-04-03 Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Verhees, Myrthe J. M. Engels, Manon Span, Paul N. Sweep, Fred C. G. J. van Herwaarden, Antonius E. Falhammar, Henrik Nordenström, Anna Webb, Emma A. Richter-Unruh, Annette Bouvattier, Claire de la Perrière, Aude Brac Arlt, Wiebke Reisch, Nicole Köhler, Birgit Rapp, Marion Stikkelbroeck, Nike M. M. L. Roeleveld, Nel Claahsen-van der Grinten, Hedi L. Front Endocrinol (Lausanne) Endocrinology Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demonstrated in women with CAH, but data on men with CAH are scarce. We hypothesized that disease severity and poor treatment control are inversely associated with QoL. In this study, 109 men (16-68 years) with 21OHD were included. The WHOQOL-BREF questionnaire was used to measure self-reported QoL domain scores on a 0-100 scale, where higher scores reflect better QoL. QoL domain scores were compared to published data on healthy and chronically ill reference populations from France, Germany, the Netherlands, and the United Kingdom. Differences in QoL scores among groups of disease severity and treatment control were tested within the study population. Overall, the men with CAH in this study appeared to rate their QoL as good. Median domain scores were 78.6 (IQR: 67.9-85.7) for physical health, 79.2 (IQR: 66.7-87.5) for psychological health, 75.0 (IQR: 58.3-83.3) for social relationships, and 81.3 (IQR: 71.9-90.6) for environment. In general, these scores were similar to WHOQOL-BREF domain scores in healthy references and higher compared to chronically ill reference populations. The domain scores did not differ among genotype groups, but patients with undertreatment or increased 17-hydroxyprogestrone concentrations scored higher on several QoL domains (p<0.05). Patients treated with dexamethasone or prednisone scored higher on the physical health, psychological health, and social relationships domains, but not on the environmental domain. In conclusion, QoL domain scores appeared to be comparable to healthy reference populations and higher compared to patients with a chronic illness. QoL was not influenced by genotype, but undertreatment and use of dexamethasone or prednisone were associated with higher QoL. Frontiers Media S.A. 2021-03-19 /pmc/articles/PMC8018222/ /pubmed/33815285 http://dx.doi.org/10.3389/fendo.2021.626646 Text en Copyright © 2021 Verhees, Engels, Span, Sweep, van Herwaarden, Falhammar, Nordenström, Webb, Richter-Unruh, Bouvattier, Perrière, Arlt, Reisch, Köhler, Rapp, Stikkelbroeck, Roeleveld and Claahsen-van der Grinten http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Verhees, Myrthe J. M.
Engels, Manon
Span, Paul N.
Sweep, Fred C. G. J.
van Herwaarden, Antonius E.
Falhammar, Henrik
Nordenström, Anna
Webb, Emma A.
Richter-Unruh, Annette
Bouvattier, Claire
de la Perrière, Aude Brac
Arlt, Wiebke
Reisch, Nicole
Köhler, Birgit
Rapp, Marion
Stikkelbroeck, Nike M. M. L.
Roeleveld, Nel
Claahsen-van der Grinten, Hedi L.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title_full Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title_fullStr Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title_full_unstemmed Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title_short Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
title_sort quality of life in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018222/
https://www.ncbi.nlm.nih.gov/pubmed/33815285
http://dx.doi.org/10.3389/fendo.2021.626646
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