Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

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

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

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 CAH with special attention to these new developments.

Original languageEnglish (US)
Pages (from-to)91-159
Number of pages69
JournalEndocrine reviews
Volume43
Issue number1
DOIs
StatePublished - Jan 12 2022

Keywords

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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