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Cited by 53Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Congenital adrenal hyperplasia – pharmacologic interventions from the prenatal phase to adulthood

Claahsen-van der Grinten, H.L., Stikkelbroeck, N.M.M.L., Otten, B.J., Hermus, A.R.M.M.·2011·Pharmacology & Therapeutics
DOI 10.1016/j.pharmthera.2011.05.004
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Abstract

Congenital adrenal hyperplasia (CAH) is one of the most common inherited autosomal recessive disorders, caused by deficiency of one of the enzymes involved in steroid synthesis. The clinical picture of the most prevalent form, i.e. 21-hydroxylase deficiency, is characterized by cortisol and mostly aldosterone deficiency and androgen excess (leading to congenital virilization in girls). Treatment consists of glucocorticoids, aimed at substitution of cortisol deficiency and, decrease of androgen excess. Usually supraphysiological doses of glucocorticoids are required to effectively suppress adrenal androgens. Furthermore, with the currently available glucocorticoid preparations, it is not possible to simulate a normal circadian rhythm in CAH patients. Therefore, it is a difficult task for (pediatric) endocrinologists to find the best balance between under- and overtreatment thereby avoiding important long term complications. In this review we will discuss the current pharmacologic treatment options. We give age dependent dose recommendations and describe the limitations of current treatment strategies. We discuss effects on fertility, bone density and cardiovascular risks. Recommendations about the use of glucocorticoids in case of fever or stress situations are given. The principles of treatment of non classic (mild) CAH are discussed in a separate section. Also prenatal therapy, to prevent congenital virilization of a female CAH newborn, is discussed. Furthermore, an overview of alternative pharmacological treatment options in the future is given.

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Authors
Claahsen-van der Grinten, H. L., Stikkelbroeck, N. M. M. L., Otten, B. J., & Hermus, A. R. M. M.
Affiliations
Radboud University Medical Center (NL)
ORCID
Hermus, A.R.M.M.
Venue
Pharmacology & Therapeutics
Publisher
Elsevier BV
Published
2011-10
Volume
132
Issue
1
Pages
1-14
ISSN
0163-7258 (ISSN-L)
DOI
10.1016/j.pharmthera.2011.05.004
OpenAlex
W2021297977
Cited by
53
References
153
Citations by year
2026: 3 · 2025: 2 · 2024: 3 · 2023: 3 · 2022: 6 · 2021: 5 · 2020: 1 · 2019: 5 · 2018: 3 · 2017: 1 · 2016: 4 · 2015: 3 · 2014: 3 · 2013: 3 · 2012: 8
FWCI
0.41
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Pharmacology & Therapeutics (publishedVersion)
  • PubMed (publishedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
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, glucocorticoid replacement therapy, cortisol deficiency, hyperandrogenism, fetal therapy, non-classical congenital adrenal hyperplasia, fertility, bone mineral density, cardiovascular risk, stress dosing, circadian rhythm
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Age Factors, Child, Circadian Rhythm, Drug Administration Schedule, Female, Fludrocortisone, Glucocorticoids, Humans, Infant, Male, Pregnancy, Therapeutic Equivalency

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