Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Endocrine reviews - 12 Jan 2022
Claahsen-van der Grinten Hedi L, Speiser Phyllis W, Ahmed S Faisal, Arlt Wiebke, Auchus Richard J, Falhammar Henrik, Flück Christa E, 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
Abstract excerpt
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...
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