Abstract
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced in utero and after birth in untreated patients. Urine steroid profiles allow early diagnosis and characterisation of the condition.
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Further Reading
Neonatal Metabolism
Christakoudi S, Cowan DA, Taylor DA. Steroids excreted in urine by neonates with 21-hydroxylase deficiency: characterisation, using GC-MS and GC-MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes. Steroids. 2010;75:34–52.
Disease Management
Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95(9):4133–60.
Genetics
Wang C, Pallan PS, Zhang W, et al. Functional analysis of human cytochrome P45021A2 variants involved in congenital adrenal hyperplasia. J Biol Chem. 2017;292(26):10767–78.
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© 2019 Springer International Publishing AG, part of Springer Nature
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Rumsby, G. (2019). 21-Hydroxylase Deficiency. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_4
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DOI: https://doi.org/10.1007/978-3-319-96364-8_4
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Publisher Name: Springer, Cham
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