Medical treatment of classic and nonclassic congenital adrenal hyperplasia
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In NC CAH, the estimated residual enzymatic activity of CYP21A2 is about 20-50% based on in vitro or in silico studies, resulting in a generally mild but highly variable phenotype.
“In NC CAH the estimated residual enzymatic activity of CYP21A2 is about 20 -50% based on in vitro or in silico studies, resulting in a generally mild but highly variable phenotype (212,217,416).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [416]
Cites
Systematic review and meta-analysis
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citationon behalf of the German Society of Pediatric Endocrinology and Diabetology, Dörr, H. G., Wollmann, H. A., Hauffa, B. P., & Woelfle, J. (2018) · BMC Endocrine Disorders · doi:10.1186/s12902-018-0263-1 · Cited by 22 · see citing works
- Authors
- Speiser, P. W.
- Affiliations
- Cohen Children's Medical Center (US)
- Corresponding author
- Speiser, Phyllis W.
- ORCID
- Speiser, Phyllis W.
- Venue
- Advances in experimental medicine and biology
- Publisher
- Springer New York
- Published
- 2011
- Volume
- 707
- Pages
- 41-45
- ISSN
- 0065-2598 (ISSN-L)
- OpenAlex
- W186451216
- Cited by
- 10
- References
- 23
- Citations by year
- 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2018: 2 · 2017: 2 · 2016: 1 · 2012: 1
- FWCI
- 0.42
- Type
- book chapter
- Language
- en
- Open access
- closed
- Licence
- Locations
- Advances in experimental medicine and biology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- congenital adrenal hyperplasia, medical therapy, glucocorticoid replacement therapy, mineralocorticoid replacement, aldosterone deficiency, hyperandrogenism, adrenal crisis, masculinization, fertility, growth and development
- MeSH terms
- Adrenal Hyperplasia, Congenital, Dose-Response Relationship, Drug, Glucocorticoids, Humans
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