Journal article
Authors list: Claahsen-van der Grinten, Hedi L.; Speiser, Phyllis W.; Ahmed, S. Faisal; Arlt, Wiebke; Auchus, Richard J.; Falhammar, Henrik; Fluck, Christa E.; Guasti, Leonardo; Huebner, Angela; Kortmann, Barbara B. M.; Krone, Nils; Merke, Deborah P.; Miller, Walter L.; Nordenstrom, Anna; Reisch, Nicole; Sandberg, David E.; Stikkelbroeck, Nike M. M. L.; Touraine, Philippe; Utari, Agustini; Wudy, Stefan A.; White, Perrin C.
Publication year: 2022
Pages: 91-159
Journal: Endocrine Reviews
Volume number: 43
Issue number: 1
ISSN: 0163-769X
eISSN: 1945-7189
Open access status: Green
DOI Link: https://doi.org/10.1210/endrev/bnab016
Publisher: Oxford University Press
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.
Citation Styles
Harvard Citation style: Claahsen-van der Grinten, H., Speiser, P., Ahmed, S., Arlt, W., Auchus, R., Falhammar, H., et al. (2022) Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management, Endocrine Reviews, 43(1), pp. 91-159. https://doi.org/10.1210/endrev/bnab016
APA Citation style: Claahsen-van der Grinten, H., Speiser, P., Ahmed, S., Arlt, W., Auchus, R., Falhammar, H., Fluck, C., Guasti, L., Huebner, A., Kortmann, B., Krone, N., Merke, D., Miller, W., Nordenstrom, A., Reisch, N., Sandberg, D., Stikkelbroeck, N., Touraine, P., Utari, A., ...White, P. (2022). Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. Endocrine Reviews. 43(1), 91-159. https://doi.org/10.1210/endrev/bnab016
Keywords
21-HYDROXYLASE DEFICIENCY; 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY; ALDOSTERONE; BETA-HYDROXYSTEROID DEHYDROGENASE; BONE-MINERAL DENSITY; CYP21A2; GENOTYPE-PHENOTYPE CORRELATION; mineralocorticoid; NEONATAL SCREENING-PROGRAM; PRENATAL DEXAMETHASONE TREATMENT; QUALITY-OF-LIFE; STEROID 21-HYDROXYLASE GENE; Steroid biosynthesis; YOUNG-ADULT PATIENTS
