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Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

โœ Scribed by Choi, J.-H.; Jin, H.-Y.; Lee, B.; Ko, J.; Lee, J.-J.; Kim, G.-H.; Jung, C.-W.; Lee, J.; Yoo, H.-W.


Book ID
121647091
Publisher
Thieme Medical Publishers
Year
2011
Tongue
English
Weight
223 KB
Volume
120
Category
Article
ISSN
0947-7349

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## Abstract Steroid 21โ€hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17โ€hydroxyp