Prenatal treatment of congenital adrenal hyperplasia-not standard of care
Abstract
Congenital adrenal hyperplasia (CAH) due to steroid 21‐hydroxylase deficiency is a common autosomal recessive disorder due to mutations in the CYP21A2 gene. Since genetic counselors play a crucial role in educating families about inherited disorders, they need to have thorough knowledge regarding the pathophysiology of CAH especially the effects on the fetus, the complex genetics of this disorder, and the controversies surrounding experimental prenatal dexamethasone treatment. Affected female fetuses may have varying degree of virilization of the external genitalia. Starting in the 1980's, supraphysiologic glucocorticoid treatment was used to decrease the virilization of the external genitalia of affected female fetuses. However, recent clinical observations, animal studies and greater awareness of the details of human fetal adrenal physiology raise concerns regarding the safety of this prenatal treatment. We review the pathophysiology of CAH, the safety and ethical considerations of prenatal dexamethasone treatment and the views of multiple medical societies that conclude that this experimental therapy should only be done in prospective trials approved by ethical review boards.
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Prenatal dexamethasone treatment is controversial due to safety concerns.
“The treatment is controversial due to safety concerns (442).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [442]
Cites
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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
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Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits
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Self-citationCooperativity and complementarity: Synergies in non-classical and classical glucocorticoid signaling
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- Authors
- Witchel, S. F., & Miller, W. L.
- Affiliations
- University of Pittsburgh (US)
- University of California, San Francisco (US)
- Corresponding author
- Witchel, Selma Feldman
- Venue
- Journal of Genetic Counseling
- Publisher
- Wiley
- Published
- 2012-05-26
- Volume
- 21
- Issue
- 5
- Pages
- 615-624
- ISSN
- 1059-7700 (ISSN-L)
- 1573-3599
- OpenAlex
- W2019894214
- Cited by
- 29
- References
- 21
- Citations by year
- 2023: 1 · 2021: 2 · 2019: 2 · 2018: 1 · 2016: 3 · 2015: 4 · 2014: 7 · 2013: 4 · 2012: 4
- FWCI
- 0.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Genetic Counseling (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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 gene, fetal virilization, external genitalia, genetic counseling, standard of care
- MeSH terms
- Adrenal Hyperplasia, Congenital, Animals, Female, Genetic Counseling, Humans, Male, Mutation, Prenatal Diagnosis, Steroid 21-Hydroxylase
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