Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management.

Publisher DOI
PubMed ID
33961029
Abstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.
Date Issued
2022-01-12
Publication Type
Article
Subject(s)
Subjects
CYP21A2
21-hydroxylase deficiency Steroid biosynthesis aldosterone cortisol glucocorticoid mineralocorticoid
Language(s)
en
Author(s)
Claahsen-van der Grinten, Hedi L
Speiser, Phyllis W
Ahmed, S Faisal
Arlt, Wiebke
Auchus, Richard J
Falhammar, Henrik
Guasti, Leonardo
Huebner, Angela
Kortmann, Barbara B M
Krone, Nils
Merke, Deborah P
Miller, Walter L
Nordenström, Anna
Reisch, Nicole
Sandberg, David E
Stikkelbroeck, Nike M M L
Touraine, Philippe
Utari, Agustini
Wudy, Stefan A
White, Perrin C
Additional Credits
Journal
Endocrine reviews
Publisher
Oxford University Press
ISSN
1945-7189
Access(Rights)
metadata.only
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