Congenital adrenal hyperplasia – current insights in pathophysiology, diagnostics and management

Hedi Claahsen-van der Grinten, Phyllis Speiser, S Faisal Ahmed, Wiebke Arlt, Richard J Auchus, Henrik Falhammar, Christa Fluck, Leonardo Guasti, Angela Huebner, Barbara B Kortmann, Nils Krone, Deborah P Merke, Walter L Miller, Anna Nordenstrom, Nicole Reisch, David Sandberg, Nike Stikkelbroeck, Philippe Touraine, Agustini Utari, Stefan A WudyPerrin White

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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.
Original languageEnglish
JournalEndocrine Reviews
Early online date7 May 2021
Publication statusE-pub ahead of print - 7 May 2021


  • Steroid biosynthesis
  • 21-hydroxylase deficiency
  • CYP21A2
  • glucocorticoid
  • mineralocorticoid
  • cortisol
  • aldosterone


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