Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthe...
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| Format: | Article |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.1064024/full |
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| author | Bas P. H. Adriaansen Bas P. H. Adriaansen Mariska A. M. Schröder Paul N. Span Fred C. G. J. Sweep Antonius E. van Herwaarden Hedi L. Claahsen-van der Grinten |
| author_facet | Bas P. H. Adriaansen Bas P. H. Adriaansen Mariska A. M. Schröder Paul N. Span Fred C. G. J. Sweep Antonius E. van Herwaarden Hedi L. Claahsen-van der Grinten |
| author_sort | Bas P. H. Adriaansen |
| collection | DOAJ |
| description | Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthesis. Elevated precursor steroids are shunted into the unaffected adrenal androgen synthesis pathway leading to elevated adrenal androgen concentrations in these patients. Classic patients are treated with glucocorticoid substitution to compensate for the low cortisol levels and to decrease elevated adrenal androgens levels via negative feedback on the pituitary gland. On the contrary, non-classic CAH (NCCAH) patients have more residual enzymatic activity and do generally not suffer from clinically relevant glucocorticoid deficiency. However, these patients may develop symptoms due to elevated adrenal androgen levels, which are most often less elevated compared to classic patients. Although glucocorticoid treatment can lower adrenal androgen production, the supraphysiological dosages also may have a negative impact on the cardiovascular system and bone health. Therefore, the benefit of glucocorticoid treatment is questionable. An individualized treatment plan is desirable as patients can present with various symptoms or may be asymptomatic. In this review, we discuss the advantages and disadvantages of different treatment options used in patients with NCCAH due to 21OHD and 11OHD. |
| first_indexed | 2024-04-11T14:12:44Z |
| format | Article |
| id | doaj.art-98e97c9d76e5434592ee3066ad8017d6 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-11T14:12:44Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-98e97c9d76e5434592ee3066ad8017d62022-12-22T04:19:39ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-12-011310.3389/fendo.2022.10640241064024Challenges in treatment of patients with non-classic congenital adrenal hyperplasiaBas P. H. Adriaansen0Bas P. H. Adriaansen1Mariska A. M. Schröder2Paul N. Span3Fred C. G. J. Sweep4Antonius E. van Herwaarden5Hedi L. Claahsen-van der Grinten6Radboud Institute of Health Sciences, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, NetherlandsDepartment of Pediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, NetherlandsDepartment of Pediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, NetherlandsRadiotherapy & OncoImmunology Laboratory, Radboud Institute of Molecular Life Sciences, Department of Radiation Oncology, Radboud University Medical Center, Nijmegen, NetherlandsRadboud Institute of Health Sciences, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, NetherlandsRadboud Institute of Health Sciences, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, NetherlandsDepartment of Pediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, NetherlandsCongenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthesis. Elevated precursor steroids are shunted into the unaffected adrenal androgen synthesis pathway leading to elevated adrenal androgen concentrations in these patients. Classic patients are treated with glucocorticoid substitution to compensate for the low cortisol levels and to decrease elevated adrenal androgens levels via negative feedback on the pituitary gland. On the contrary, non-classic CAH (NCCAH) patients have more residual enzymatic activity and do generally not suffer from clinically relevant glucocorticoid deficiency. However, these patients may develop symptoms due to elevated adrenal androgen levels, which are most often less elevated compared to classic patients. Although glucocorticoid treatment can lower adrenal androgen production, the supraphysiological dosages also may have a negative impact on the cardiovascular system and bone health. Therefore, the benefit of glucocorticoid treatment is questionable. An individualized treatment plan is desirable as patients can present with various symptoms or may be asymptomatic. In this review, we discuss the advantages and disadvantages of different treatment options used in patients with NCCAH due to 21OHD and 11OHD.https://www.frontiersin.org/articles/10.3389/fendo.2022.1064024/fullNon-classic congenital adrenal hyperplasia (NCCAH)21-hydroxylase deficiency (21OHD)11-hydroxylase deficiency (11OHD)treatment optionsglucocorticoid treatment |
| spellingShingle | Bas P. H. Adriaansen Bas P. H. Adriaansen Mariska A. M. Schröder Paul N. Span Fred C. G. J. Sweep Antonius E. van Herwaarden Hedi L. Claahsen-van der Grinten Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology Non-classic congenital adrenal hyperplasia (NCCAH) 21-hydroxylase deficiency (21OHD) 11-hydroxylase deficiency (11OHD) treatment options glucocorticoid treatment |
| title | Challenges in treatment of patients with non-classic congenital adrenal hyperplasia |
| title_full | Challenges in treatment of patients with non-classic congenital adrenal hyperplasia |
| title_fullStr | Challenges in treatment of patients with non-classic congenital adrenal hyperplasia |
| title_full_unstemmed | Challenges in treatment of patients with non-classic congenital adrenal hyperplasia |
| title_short | Challenges in treatment of patients with non-classic congenital adrenal hyperplasia |
| title_sort | challenges in treatment of patients with non classic congenital adrenal hyperplasia |
| topic | Non-classic congenital adrenal hyperplasia (NCCAH) 21-hydroxylase deficiency (21OHD) 11-hydroxylase deficiency (11OHD) treatment options glucocorticoid treatment |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.1064024/full |
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